Prenatal Diagnosis Innovation: Genome Sequencing of Maternal Plasma
Noninvasive prenatal testing (NIPT) is accomplished by analysis of circulating cell-free fetal nucleic acids in maternal plasma. The advent of massively parallel sequencing (MPS) has enabled NIPT of chromosomal aneuploidies with unprecedented robustness, and these tests are now widely available for...
Saved in:
| Published in: | Annual review of medicine Vol. 67; no. 1; pp. 419 - 432 |
|---|---|
| Main Authors: | , |
| Format: | Journal Article |
| Language: | English |
| Published: |
United States
Annual Reviews
01-01-2016
Annual Reviews, Inc |
| Subjects: | |
| Online Access: | Get full text |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| Abstract | Noninvasive prenatal testing (NIPT) is accomplished by analysis of circulating cell-free fetal nucleic acids in maternal plasma. The advent of massively parallel sequencing (MPS) has enabled NIPT of chromosomal aneuploidies with unprecedented robustness, and these tests are now widely available for clinical use. Moreover, MPS-based NIPT of subchromosomal deletions duplications and single-gene disorders has also been achieved, and the number of applications is growing. In addition to specific fetal genetic disorders, the whole fetal genome, transcriptome, and methylome have been revealed by deep sequencing of maternal plasma. The analysis of the fetal transcriptome and methylome may yield valuable information on fetal and maternal health. With continued improvement in sequencing technology and reduction in sequencing costs, the analysis of cell-free nucleic acids would play an increasingly important role in prenatal screening, diagnosis, monitoring, and risk stratification of fetal as well as maternal conditions. |
|---|---|
| AbstractList | Noninvasive prenatal testing (NIPT) is accomplished by analysis of circulating cell-free fetal nucleic acids in maternal plasma. The advent of massively parallel sequencing (MPS) has enabled NIPT of chromosomal aneuploidies with unprecedented robustness, and these tests are now widely available for clinical use. Moreover, MPS-based NIPT of subchromosomal deletions/duplications and single-gene disorders has also been achieved, and the number of applications is growing. In addition to specific fetal genetic disorders, the whole fetal genome, transcriptome, and methylome have been revealed by deep sequencing of maternal plasma. The analysis of the fetal transcriptome and methylome may yield valuable information on fetal and maternal health. With continued improvement in sequencing technology and reduction in sequencing costs, the analysis of cell-free nucleic acids would play an increasingly important role in prenatal screening, diagnosis, monitoring, and risk stratification of fetal as well as maternal conditions. |
| Author | Lo, Y.M. Dennis Wong, Felix C.K |
| AuthorAffiliation | 1 2 felix@cuhk.edu.hk Department of Chemical Pathology, The Chinese University of Hong Kong, Shatin, New Territories, Hong Kong SAR, China; email loym@cuhk.edu.hk Centre for Research into Circulating Fetal Nucleic Acids, Li Ka Shing Institute of Health Sciences, and , |
| AuthorAffiliation_xml | – name: loym@cuhk.edu.hk – name: Centre for Research into Circulating Fetal Nucleic Acids, Li Ka Shing Institute of Health Sciences, and – name: felix@cuhk.edu.hk – name: 2 – name: Department of Chemical Pathology, The Chinese University of Hong Kong, Shatin, New Territories, Hong Kong SAR, China; email – name: , – name: 1 |
| Author_xml | – sequence: 1 givenname: Felix C.K surname: Wong fullname: Wong, Felix C.K – sequence: 2 givenname: Y.M. Dennis surname: Lo fullname: Lo, Y.M. Dennis |
| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/26473414$$D View this record in MEDLINE/PubMed |
| BookMark | eNqVkEtLxDAUhYMoOj7-glTcuKneO82jdSHI-IQRB1RwF-5kUqm0iTat4r83Y8eNO1dZ5DvnHr5ttu68s4wdIBwjcnlCzvWt_Ugbu0ihQECeIgqFYo2NUHCRZmP5vM5GAFKmfIzFFtsO4RUAiizLN9nWWHKVceQjNpm11lFHdXJR0YvzoQrJrXP-g7rKu9Pk2jrf2OTBvvfWmcq9JL5M7qizrYuZWU2hoV22UVId7N7q3WFPV5ePk5t0en99OzmfpsQFdiknhGxuLColslxRBnmp4nwlFmJuTFlyWQguhcTccAkGqJwviFuDAMKocbbDjobet9bHOaHTTRWMrWty1vdBo5KQ57E9j-jhH_TV98vJP1ReQLQkI1UMlGl9CK0t9VtbNdR-aQS9NK1XpnU0rQfTejAds_urC_18-fub_FUbgbMBWHZQHVsq-xn-ceEbcVKSaw |
| CitedBy_id | crossref_primary_10_1186_s12910_023_00964_3 crossref_primary_10_1057_s41292_019_00171_7 crossref_primary_10_3390_jcm7020035 crossref_primary_10_1186_s13148_019_0689_y crossref_primary_10_5005_jp_journals_10009_1463 crossref_primary_10_1136_bjophthalmol_2018_313005 crossref_primary_10_1016_j_ogc_2017_11_001 crossref_primary_10_1055_s_0040_1721674 crossref_primary_10_1111_cas_13505 crossref_primary_10_1146_annurev_med_072115_033220 crossref_primary_10_2174_1875692117666191106105918 crossref_primary_10_1002_pd_5601 crossref_primary_10_1007_s00108_018_0457_7 crossref_primary_10_1002_pd_6137 crossref_primary_10_1016_j_placenta_2017_04_021 crossref_primary_10_2217_epi_2016_0080 crossref_primary_10_1373_clinchem_2016_254813 crossref_primary_10_1093_brain_awac438 crossref_primary_10_1016_j_ejogrb_2018_10_016 crossref_primary_10_1016_j_bpobgyn_2017_02_007 crossref_primary_10_12688_f1000research_8243_1 crossref_primary_10_1080_10408363_2019_1631749 crossref_primary_10_1373_clinchem_2018_299602 crossref_primary_10_1007_s10815_021_02351_6 crossref_primary_10_1016_j_cca_2017_03_031 crossref_primary_10_1007_s11426_020_9864_7 crossref_primary_10_1016_j_clinbiochem_2021_11_013 crossref_primary_10_3390_biom11091328 crossref_primary_10_1097_GCO_0000000000000347 crossref_primary_10_1016_j_ccell_2020_03_012 crossref_primary_10_1080_23294515_2018_1469551 crossref_primary_10_5493_wjem_v11_i5_55 crossref_primary_10_1186_s13148_021_01182_7 crossref_primary_10_1007_s40291_019_00385_2 crossref_primary_10_1007_s11019_019_09888_5 crossref_primary_10_1007_s40291_017_0312_x crossref_primary_10_3390_genes12010015 crossref_primary_10_1007_s11019_016_9725_2 crossref_primary_10_1038_s41598_022_24337_9 crossref_primary_10_1002_ctm2_817 crossref_primary_10_1016_j_ejogrb_2021_01_008 crossref_primary_10_1038_s43705_022_00145_0 crossref_primary_10_3390_ijms17121994 crossref_primary_10_1016_j_cca_2021_05_033 crossref_primary_10_3390_jpm13010022 crossref_primary_10_1007_s10728_019_00379_5 crossref_primary_10_1111_ijlh_12823 crossref_primary_10_1186_s13073_021_00836_8 crossref_primary_10_1186_s12884_020_03538_y crossref_primary_10_1186_s12884_017_1535_x crossref_primary_10_3390_diagnostics13152532 crossref_primary_10_1515_jpm_2021_0021 crossref_primary_10_1016_j_molmed_2016_09_008 crossref_primary_10_1007_s10875_017_0455_x crossref_primary_10_1172_jci_insight_144561 crossref_primary_10_1016_j_bpobgyn_2016_10_011 crossref_primary_10_1093_humupd_dmy008 crossref_primary_10_2174_2211536608666190318105140 crossref_primary_10_1126_scitranslmed_abm6863 crossref_primary_10_1038_nrg_2016_97 crossref_primary_10_1007_s00281_023_00993_5 crossref_primary_10_1016_j_jmoldx_2016_07_003 crossref_primary_10_1016_j_suc_2022_08_003 crossref_primary_10_1038_nrg_2016_154 crossref_primary_10_3390_ijms241411715 crossref_primary_10_1002_pd_5186 crossref_primary_10_3389_fgene_2022_955694 crossref_primary_10_1126_scitranslmed_aaz3088 crossref_primary_10_1038_s41431_020_00759_9 crossref_primary_10_1126_scitranslmed_aah4661 crossref_primary_10_1002_pd_4843 crossref_primary_10_3390_diagnostics12030575 crossref_primary_10_1080_13698575_2019_1639636 crossref_primary_10_1073_pnas_1617112113 crossref_primary_10_1542_neo_23_12_e829 crossref_primary_10_1016_j_vsf_2016_07_003 |
| Cites_doi | 10.1002/pd.4132 10.1093/molehr/gat044 10.1016/j.clinbiochem.2015.03.004 10.1038/nbt.1740 10.1126/scitranslmed.3001720 10.1097/AOG.0b013e31824fb482 10.1038/gim.2011.73 10.1093/clinchem/48.3.421 10.1038/nature11236 10.1126/scitranslmed.3004323 10.1002/pd.4103 10.1016/j.rbmo.2013.08.008 10.1373/clinchem.2011.180794 10.1056/NEJMoa1311037 10.1002/pd.2922 10.1002/9780470015902.a0005549.pub2 10.1373/clinchem.2003.024893 10.1186/gm422 10.1038/ng1990 10.1038/nrg3642 10.1002/pd.2230 10.1007/s10897-012-9564-0 10.1073/pnas.0810373105 10.1002/pd.4110 10.1182/blood-2010-10-310789 10.1056/NEJMc1106975 10.1373/clinchem.2014.233312 10.1086/302205 10.1373/clinchem.2011.178939 10.1002/pd.4076 10.1073/pnas.0810641105 10.1097/GIM.0b013e3182368a0e 10.1093/clinchem/46.2.301 10.1038/gim.2013.29 10.1056/NEJM199812103392402 10.1159/000358326 10.1016/j.ajog.2012.08.033 10.1038/nbt.1739 10.1371/journal.pone.0015069 10.1016/j.ajog.2012.01.030 10.1038/nm1530 10.1073/pnas.0808319105 10.1002/uog.8893 10.1056/NEJMoa1408408 10.1371/journal.pone.0015244 10.1056/NEJMoa1407349 10.1002/uog.14791 10.1002/pd.4097 10.1093/nar/gkt992 10.1097/01.AOG.0000423819.85283.f4 10.1097/GIM.0b013e3181bb267b 10.1159/000367626 10.1371/journal.pbio.0060022 10.1016/j.ajog.2014.11.041 10.1002/pd.2385 10.1373/clinchem.2008.111385 10.1136/jmg.2003.015784 10.1097/01.AOG.0000278820.54029.e3 10.1016/j.ajog.2012.05.021 10.1515/cclm-2012-0601 10.1373/clinchem.2012.189589 10.1136/bmj.c7401 10.1002/pd.4002 10.1016/j.ajhg.2012.12.006 10.1002/pd.1700 10.1371/journal.pone.0088484 10.1002/pd.3892 10.1002/pd.4069 10.1093/clinchem/46.11.1832 10.1373/clinchem.2009.134114 10.1373/clinchem.2006.076851 10.1002/pd.750 10.1016/j.ajog.2010.12.060 10.1373/clinchem.2013.212274 10.1002/pd.3993 10.1038/nature11251 10.1373/clinchem.2012.194068 10.1086/301800 10.1038/nrg2341 10.1101/gr.077479.108 10.1373/49.5.727 10.1371/journal.pone.0038154 10.1002/pd.4078 10.1016/S0140-6736(97)02174-0 10.1002/pd.2730 10.1002/pd.570 10.1016/j.placenta.2010.06.018 10.1373/clinchem.2013.215145 10.1210/jc.2014-1118 10.1038/nm.2312 10.1002/pd.2340 10.1073/pnas.0503335102 10.1371/journal.pone.0107318 10.1373/clinchem.2011.165910 10.1038/ejhg.2010.63 10.1073/pnas.1405528111 10.1373/clinchem.2006.074997 10.1373/clinchem.2010.154336 10.1002/pd.4066 10.1038/ng1909 10.1002/pd.4583 10.1002/uog.1923 10.1073/pnas.76.3.1453 10.1371/journal.pone.0060968 10.1373/clinchem.2014.221648 10.1016/S1701-2163(15)31025-2 |
| ContentType | Journal Article |
| Copyright | Copyright © 2016 by Annual Reviews. All rights reserved 2016 Copyright Annual Reviews, Inc. 2016 |
| Copyright_xml | – notice: Copyright © 2016 by Annual Reviews. All rights reserved 2016 – notice: Copyright Annual Reviews, Inc. 2016 |
| DBID | CGR CUY CVF ECM EIF NPM AAYXX CITATION 7QP 7T5 7TO 7U9 8FD FR3 H94 K9. P64 RC3 7X8 |
| DOI | 10.1146/annurev-med-091014-115715 |
| DatabaseName | Medline MEDLINE MEDLINE (Ovid) MEDLINE MEDLINE PubMed CrossRef Calcium & Calcified Tissue Abstracts Immunology Abstracts Oncogenes and Growth Factors Abstracts Virology and AIDS Abstracts Technology Research Database Engineering Research Database AIDS and Cancer Research Abstracts ProQuest Health & Medical Complete (Alumni) Biotechnology and BioEngineering Abstracts Genetics Abstracts MEDLINE - Academic |
| DatabaseTitle | MEDLINE Medline Complete MEDLINE with Full Text PubMed MEDLINE (Ovid) CrossRef Genetics Abstracts Virology and AIDS Abstracts Oncogenes and Growth Factors Abstracts Technology Research Database AIDS and Cancer Research Abstracts ProQuest Health & Medical Complete (Alumni) Immunology Abstracts Engineering Research Database Calcium & Calcified Tissue Abstracts Biotechnology and BioEngineering Abstracts MEDLINE - Academic |
| DatabaseTitleList | MEDLINE CrossRef MEDLINE - Academic Genetics Abstracts |
| Database_xml | – sequence: 1 dbid: ECM name: MEDLINE url: https://search.ebscohost.com/login.aspx?direct=true&db=cmedm&site=ehost-live sourceTypes: Index Database |
| DeliveryMethod | fulltext_linktorsrc |
| Discipline | Medicine |
| EISSN | 1545-326X |
| EndPage | 432 |
| ExternalDocumentID | 3967386751 10_1146_annurev_med_091014_115715 26473414 n/a |
| Genre | Journal Article Review |
| GroupedDBID | --- -QD -QH -~X 0R~ 1KX 23M 36B 39C 4.4 51A 5FA 5FB 5FC 5FD 5FE 5FF 5GY 7A. 85S 8NG AABJL AAGWO AALHT AALUV AAOHI AARJV AAWJP AAYIS ABDOG ABGRM ABIPL ABJNI ABKGM ABOCM ABVYV ACAHA ACDVT ACGFS ACGOD ACIWK ACPRK ACQCJ ACRLM ACSOE ADNJN ADWMN AEAIQ AEKBM AENEX AEPIK AEWIE AFCZG AFERR AFKDQ AFRAH AHIXL AHKZM AHMBA AHVNO AICBU AIDEK ALAFQ ALMA_UNASSIGNED_HOLDINGS AMTJG AQQLW B9D B9E B9F B9G B9H B9L B9N BCFVH BJPMW BMYRD BR6 CS3 EBS EJD F-Q F-S F-V F-X F-Y F-Z F5P FIWKU FIXEU FMZAJ FQMFW FT0 FU. FUEKT FXG GJQJI GLOEX GNDDA GOAVI GQXMV HZ~ IH2 J1V L7B M22 N9A O9- P0P P2P RAR RAV WH7 X7N YSK ZA5 ZYWBE ~02 .GJ 3O- 3V. 53G 5FH 70K 70N 70Q 70S 70W 79. 7B- 7X7 88E 88I 8AF 8AO 8FI 8FJ 8G5 8R4 8R5 ABDBF ABUWG ABZNY ACMXS ADBBV ADEJD ADHEY ADLON ADOJD ADSVE AFKEJ AFKRA AFONB AI. AIJFW AJAAW ALIPV AOUBY ATAUN AZQEC B0M BENPR BPHCQ BVXVI CCPQU CGR CUY CVF DWQXO EAP EBC EBD EBX ECM EIF EMB EMK EMOBN EPS ESX FEDTE FYUFA G8K GNUQQ GUQSH H13 HCIFZ HMCUK HVGLF H~9 M1P M2M M2O M2P MK0 NPM OHT PADUT PQQKQ PROAC PSQYO PSYQQ Q2X RNS SV3 TUS UKHRP VH1 VQP ZGI ~8M AAYXX CITATION 7QP 7T5 7TO 7U9 8FD FR3 H94 K9. P64 RC3 7X8 |
| ID | FETCH-LOGICAL-a451t-4a103bce1775387a308f709175d5bccff4695465618c460c0afbda4ec1005c723 |
| IEDL.DBID | FXG |
| ISSN | 0066-4219 |
| IngestDate | Fri Oct 25 08:20:21 EDT 2024 Wed Nov 06 08:59:01 EST 2024 Thu Nov 21 21:08:50 EST 2024 Tue Oct 15 23:55:49 EDT 2024 Fri May 03 17:47:16 EDT 2024 |
| IsDoiOpenAccess | false |
| IsOpenAccess | true |
| IsPeerReviewed | true |
| IsScholarly | true |
| Issue | 1 |
| Keywords | cell-free DNA methylome next-generation sequencing noninvasive prenatal testing transcriptome |
| Language | English |
| LinkModel | DirectLink |
| MergedId | FETCHMERGED-LOGICAL-a451t-4a103bce1775387a308f709175d5bccff4695465618c460c0afbda4ec1005c723 |
| Notes | ObjectType-Article-2 SourceType-Scholarly Journals-1 ObjectType-Feature-3 content type line 23 ObjectType-Review-1 |
| OpenAccessLink | https://www.annualreviews.org/doi/pdf/10.1146/annurev-med-091014-115715 |
| PMID | 26473414 |
| PQID | 1768905456 |
| PQPubID | 24900 |
| PageCount | 14 |
| ParticipantIDs | crossref_primary_10_1146_annurev_med_091014_115715 proquest_journals_1768905456 annualreviews_primary_10_1146_annurev_med_091014_115715 pubmed_primary_26473414 proquest_miscellaneous_1760887758 |
| PublicationCentury | 2000 |
| PublicationDate | 2016-01-01 |
| PublicationDateYYYYMMDD | 2016-01-01 |
| PublicationDate_xml | – month: 01 year: 2016 text: 2016-01-01 day: 01 |
| PublicationDecade | 2010 |
| PublicationPlace | United States |
| PublicationPlace_xml | – name: United States – name: Palo Alto |
| PublicationTitle | Annual review of medicine |
| PublicationTitleAlternate | Annu Rev Med |
| PublicationYear | 2016 |
| Publisher | Annual Reviews Annual Reviews, Inc |
| Publisher_xml | – name: Annual Reviews – name: Annual Reviews, Inc |
| References | Alberry, M (8. ) 2007; 27 Zhao, C (61. ) 2015; 61 Lo, YM (1. ) 1997; 350 Norton, ME (46. ) 2015; 372 Zhang, J (12. ) 2004; 50 Van Der Luijt, RB (9. ) 2003; 23 Snyder, MW (82. ) 2013; 33 Lo, YM (15. ) 2013; 51 Bird, A (83. ) 2008; 9 Liao, GJ (20. ) 2011; 57 Langlois, S (41. ) 2013; 35 Akolekar, R (26. ) 2011; 342 Sparks, AB (23. ) 2012; 206 Barrett, AN (69. ) 2013; 33 Smith, K (47. ) 2013; 33 Chan, KC (73. ) 2011; 117 Tsui, NB (101. ) 2007; 13 Chitty, LS (70. ) 2015; 35 Rakyan, VK (87. ) 2008; 18 Chan, KC (89. ) 2006; 52 Alfirevic, Z (2. ) 2007; 110 Lo, YM (6. ) 1999; 64 Tsaliki, E (94. ) 2011; 17 Pan, M (51. ) 2013; 33 Chiu, RW (91. ) 2010; 5 Fan, HC (76. ) 2012; 487 Chim, SS (88. ) 2005; 102 Bianchi, DW (45. ) 2014; 370 Chiu, RW (101. ) 2007; 13 Zwiefelhofer, T (29. ) 2011; 204 Khalil, A (69. ) 2013; 33 Chen, S (78. ) 2013; 5 Tong, YK (75. ) 2014; 99 Pang, WW (99. ) 2009; 29 Corbetta, N (1. ) 1997; 350 Lo, YM (13. ) 2010; 2 Mason, S (70. ) 2015; 35 Snyder, MW (77. ) 2012; 4 Thorne, NP (87. ) 2008; 18 Lun, FM (11. ) 2013; 59 Bianchi, DW (3. ) 1979; 76 Liao, GJ (21. ) 2012; 7 Gemelos, G (22. ) 2012; 32 Chan, KC (18. ) 2008; 105 Chitty, LS (72. ) 2012; 58 Chamberlain, PF (1. ) 1997; 350 Liao, GJ (74. ) 2012; 58 Peters, D (55. ) 2011; 365 Borrell, A (37. ) 2011; 31 Ng, EK (100. ) 2003; 49 Novelli, G (66. ) 2000; 46 Leung, TY (102. ) 2009; 29 Straver, R (60. ) 2014; 42 Goldberg, JD (31. ) 2012; 119 Daniels, G (47. ) 2013; 33 Parker, RL (45. ) 2014; 370 Wang, Y (50. ) 2014; 60 von Dadelszen, P (95. ) 2010; 18 Deciu, C (28. ) 2012; 14 McDonnell, TC (72. ) 2012; 58 Chitkara, U (19. ) 2008; 105 Nicolaides, KH (43. ) 2012; 207 Yuen, RK (95. ) 2010; 18 Stadler, MB (85. ) 2007; 39 Kitzman, JO (82. ) 2013; 33 Rusterholz, C (105. ) 2011; 32 Kloza, EM (52. ) 2012; 32 Peters, ED (9. ) 2003; 23 Down, TA (87. ) 2008; 18 Wentworth, J (45. ) 2014; 370 Blair, JD (96. ) 2013; 19 Ren, J (44. ) 2012; 32 Huang, H (58. ) 2013; 92 Fidler, C (64. ) 1998; 339 Miura, K (7. ) 2004; 41 Weiss, J (32. ) 2012; 207 Chan, KC (13. ) 2010; 2 Papageorgiou, EA (94. ) 2011; 17 Herzenberg, LA (3. ) 1979; 76 Palomaki, GE (30. ) 2011; 13 Potanina, A (79. ) 2011; 29 Palomaki, GE (28. ) 2012; 14 Simmons, LE (49. ) 2015; 372 Kermani, BG (81. ) 2012; 487 Chu, T (97. ) 2014; 9 Poon, LL (98. ) 2000; 46 Lo, YM (64. ) 1998; 339 Kerr, A (86. ) 2008; 6 Dan, S (44. ) 2012; 32 Lewin, J (84. ) 2006; 38 Peñaherrera, MS (95. ) 2010; 18 Hui, AB (12. ) 2004; 50 Tong, YK (92. ) 2010; 56 Jiang, FM (48. ) 2013; 33 Wapner, RJ (62. ) 2015; 212 Best, RG (40. ) 2013; 15 Gross, SJ (17. ) 2009; 11 Bogard, PE (25. ) 2014; 36 Jiang, P (103. ) 2014; 60 Kitzman, JO (80. ) 2011; 29 Sparks, AB (81. ) 2012; 487 Jones, M (8. ) 2007; 27 Zhang, J (6. ) 1999; 64 Brock, JA (41. ) 2013; 35 Hjelm, NM (64. ) 1998; 339 Lam, KW (74. ) 2012; 58 Gerovassili, A (89. ) 2006; 52 Kitzman, JO (77. ) 2012; 4 Weber, M (85. ) 2007; 39 Pan, W (104. ) 2014; 111 Revello, R (35. ) 2015; 45 Huang, S (25. ) 2014; 36 Lau, TK (48. ) 2013; 33 Lo, YM (14. ) 2013; 27 Gil, MM (34. ) 2014; 35 Chiu, RW (92. ) 2010; 56 Swamy, GK (46. ) 2015; 372 Jin, S (92. ) 2010; 56 González-González, MC (65. ) 2003; 23 Norbury, G (67. ) 2009; 29 Tynan, J (61. ) 2015; 61 Chan, KC (12. ) 2004; 50 Juneau, K (25. ) 2014; 36 Lee, WS (93. ) 2010; 5 Ashoor, G (43. ) 2012; 207 Rodríguez de Alba, M (65. ) 2003; 23 Gao, Y (18. ) 2008; 105 Norton, ME (32. ) 2012; 207 Ehrich, M (61. ) 2015; 61 Wang, J (76. ) 2012; 487 Slavotinek, A (63. ) 2012 Zheng, YW (20. ) 2011; 57 Tian, F (50. ) 2014; 60 Masuzaki, H (7. ) 2004; 41 Lambert-Messerlian, GM (52. ) 2012; 32 Kloza, EM (28. ) 2012; 14 Griffin, DR (68. ) 2011; 37 Rijnders, RJ (9. ) 2003; 23 Fan, HC (19. ) 2008; 105 Quezada, MS (35. ) 2015; 45 Bunce, K (97. ) 2014; 9 Jiang, P (74. ) 2012; 58 Tein, MS (4. ) 1998; 62 Cortese, R (84. ) 2006; 38 Blumenfeld, YJ (19. ) 2008; 105 Li, Y (51. ) 2013; 33 Bianchi, DW (58. ) 2013; 92 Maddocks, D (8. ) 2007; 27 Ge, H (78. ) 2013; 5 Rhees, B (27. ) 2011; 57 Bianchi, DW (31. ) 2012; 119 Sparks, AB (24. ) 2012; 32 Hahn, S (105. ) 2011; 32 Quake, SR (79. ) 2011; 29 Falcon, O (36. ) 2005; 26 Levy, B (62. ) 2015; 212 Lau, TK (4. ) 1998; 62 Wong, YF (103. ) 2014; 60 Deciu, C (29. ) 2011; 204 Brar, H (32. ) 2012; 207 Leung, TY (53. ) 2013; 33 Chiu, RW (11. ) 2013; 59 Chiu, RW (18. ) 2008; 105 Syngelaki, A (33. ) 2013; 33 Lambert-Messerlian, GM (30. ) 2011; 13 Chiu, RW (15. ) 2013; 51 Wang, X (78. ) 2013; 5 Babiarz, JE (62. ) 2015; 212 Ehrich, M (29. ) 2011; 204 Sims, D (16. ) 2014; 15 Meaney, C (68. ) 2011; 37 Hösli, I (105. ) 2011; 32 Gil, MM (35. ) 2015; 45 Trujillo, MJ (65. ) 2003; 23 Dallapiccola, B (66. ) 2000; 46 Tsui, NB (102. ) 2009; 29 Lun, FM (20. ) 2011; 57 Tsui, NB (103. ) 2014; 60 Kitzman, JO (49. ) 2015; 372 Lam, YM (93. ) 2010; 5 Shaw, P (97. ) 2014; 9 Lapaire, O (105. ) 2011; 32 Devers, PL (39. ) 2013; 22 Lo, YM (101. ) 2007; 13 Tsui, NB (71. ) 2008; 105 (38. ) 2012; 120 Chan, KC (21. ) 2012; 7 Mujezinovic, F (2. ) 2007; 110 Yatsenko, SA (55. ) 2011; 365 Sun, K (11. ) 2013; 59 Jiang, P (57. ) 2013; 8 Gennarelli, M (66. ) 2000; 46 Hellmann, I (85. ) 2007; 39 Gawad, C (104. ) 2014; 111 Chitty, LS (69. ) 2013; 33 Wong, BC (102. ) 2009; 29 Driscoll, DA (17. ) 2009; 11 Sahota, D (99. ) 2009; 29 Chiu, RW (88. ) 2005; 102 Qu, JZ (54. ) 2013; 59 Tong, YK (91. ) 2010; 5 Gross, SJ (40. ) 2013; 15 Oudejans, CBM (106. ) 2015; 48 Crossley, J (37. ) 2011; 31 Jensen, TJ (56. ) 2012; 58 Chen, S (59. ) 2013; 33 Wegrzyn, P (36. ) 2005; 26 Tsui, MH (99. ) 2009; 29 Jiang, P (21. ) 2012; 7 Benn, P (37. ) 2011; 31 Snyder, MW (49. ) 2015; 372 Lui, YY (10. ) 2002; 48 Gregg, AR (40. ) 2013; 15 Leung, TY (54. ) 2013; 59 Sun, H (13. ) 2010; 2 Zhang, C (59. ) 2013; 33 Lim, BK (96. ) 2013; 19 Li, FT (51. ) 2013; 33 Adey, A (80. ) 2011; 29 Faro, C (36. ) 2005; 26 Chan, KC (72. ) 2012; 58 Wang, J (79. ) 2011; 29 Eckhardt, F (84. ) 2006; 38 Qu, JZ (53. ) 2013; 33 Gil, M (33. ) 2013; 33 Tsui, NB (73. ) 2011; 117 Kadir, RA (73. ) 2011; 117 Jacobsson, B (46. ) 2015; 372 Platt, LD (31. ) 2012; 119 Tong, YK (90. ) 2006; 52 Kloza, EM (30. ) 2011; 13 Comstock, D (27. ) 2011; 57 Hudecova, I (42. ) 2014; 9 Yu, SC (57. ) 2013; 8 Chu, T (55. ) 2011; 365 Sehnert, AJ (27. ) 2011; 57 Ormond, KE (39. ) 2013; 22 Cronister, A (39. ) 2013; 22 New, MI (75. ) 2014; 99 Fan, HC (79. ) 2011; 29 Holstege, H (60. ) 2014; 42 Chen, Y (50. ) 2014; 60 Illingworth, R (86. ) 2008; 6 Chiu, RW (90. ) 2006; 52 Karagrigoriou, A (94. ) 2011; 17 Ding, C (89. ) 2006; 52 Zheng, YW (26. ) 2011; 342 Meaney, C (67. ) 2009; 29 Barrett, AN (72. ) 2012; 58 Stevenson, RJ (48. ) 2013; 33 Chiu, RW (5. ) 2008; 54 Yuen, RK (96. ) 2013; 19 Schröder, J (3. ) 1979; 76 Wang, ET (24. ) 2012; 32 Yuen, T (75. ) 2014; 99 Mackenzie, AP (80. ) 2011; 29 Wang, W (44. ) 2012; 32 Choy, KW (57. ) 2013; 8 Nicolaides, KH (33. ) 2013; 33 Leung, TN (98. ) 2000; 46 Akolekar, R (34. ) 2014; 35 Koh, W (104. ) 2014; 111 Deciu, C (56. ) 2012; 58 Hill, M (22. ) 2012; 32 Searle, CJ (47. ) 2013; 33 Heung, MM (42. ) 2014; 9 Lau, TK (59. ) 2013; 33 Sistermans, EA (60. ) 2014; 42 Tsui, NB (100. ) 2003; 49 Jiang, P (54. ) 2013; 59 Lo, YM (4. ) 1998; 62 Desousa, D (86. ) 2008; 6 Wilson, RD (41. ) 2013; 35 Yoshiura, KI (7. ) 2004; 41 Lun, FM (71. ) 2008; 105 Quezada, MS (34. ) 2014; 35 Leung, TN (6. ) 1999; 64 Simmons, LE (82. ) 2013; 33 Suzuki, MM (83. ) 2008; 9 Sahota, D (42. ) 2014; 9 Chitty, LS (68. ) 2011; 37 Peters, BA (81. ) 2012; 487 Lau, TK (98. ) 2000; 46 Chan, KC (5. ) 2008; 54 Amicucci, P (66. ) 2000; 46 Leung, TN (100. ) 2003; 49 Struble, CA (23. ) 2012; 206 Canick, JA (52. ) 2012; 32 Gu, W (76. ) 2012; 487 Chik, KW (10. ) 2002; 48 Sudbery, I (16. ) 2014; 15 Dzakula, Z (56. ) 2012; 58 Chiu, RW (26. ) 2011; 342 Ventura, M (77. ) 2012; 4 Barrett, AN (70. ) 2015; 35 Tong, YK (88. ) 2005; 102 Wang, ET (23. ) 2012; 206 Chan, KC (71. ) 2008; 105 Lo, YM (98. ) 2000; 46 Lun, FM (5. ) 2008; 54 Ding, C (90. ) 2006; 52 Akolekar, R (91. ) 2010; 5 Chiu, RW (10. ) 2002; 48 Zimmermann, B (22. ) 2012; 32 Syngelaki, A (43. ) 2012; 207 Liao, GJ (53. ) 2013; 33 Struble, CA (24. ) 2012; 32 Ilott, NE (16. ) 2014; 15 Srinivasan, A (58. ) 2013; 92 Tsui, DW (93. ) 2010; 5 B20 B21 B22 B23 B24 B25 B26 B27 B28 B29 Poon LL (B98) 2000; 46 B30 B31 B32 B33 B34 B35 B36 B37 B38 B39 B1 B2 B3 B4 B5 B6 B7 B8 B9 Amicucci P (B66) 2000; 46 B40 B41 B42 B43 B44 B45 B46 B47 B48 B49 B50 B51 B52 B53 B54 B55 B56 B57 B58 B59 B105 B106 B103 B104 B101 B102 B100 B60 B61 B62 B63 B64 B65 B67 B68 B69 B70 B71 B72 B73 B74 B75 B76 B77 B78 B79 Lui YY (B10) 2002; 48 B80 B81 B82 B83 B84 B85 B86 B87 B88 B89 B90 B91 B92 B93 B94 B95 B96 B97 B11 B99 B12 B13 B14 B16 B17 B18 B19 Chiu RW (B15) 2013; 51 |
| References_xml | – volume: 105 start-page: 16266 year: 2008 end-page: 71 ident: 19. article-title: Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood publication-title: PNAS contributor: fullname: Fan, HC – volume: 19 start-page: 697 year: 2013 end-page: 708 ident: 96. article-title: Widespread DNA hypomethylation at gene enhancer regions in placentas associated with early-onset pre-eclampsia publication-title: Mol. Hum. Reprod. contributor: fullname: Yuen, RK – volume: 41 start-page: 289 year: 2004 end-page: 92 ident: 7. article-title: Detection of cell free placental DNA in maternal plasma: direct evidence from three cases of confined placental mosaicism publication-title: J. Med. Genet. contributor: fullname: Masuzaki, H – volume: 50 start-page: 88 year: 2004 end-page: 92 ident: 12. article-title: Size distributions of maternal and fetal DNA in maternal plasma publication-title: Clin. Chem. contributor: fullname: Zhang, J – volume: 54 start-page: 1664 year: 2008 end-page: 72 ident: 5. article-title: Microfluidics digital PCR reveals a higher than expected fraction of fetal DNA in maternal plasma publication-title: Clin. Chem. contributor: fullname: Lun, FM – volume: 23 start-page: 1042 year: 2003 end-page: 44 ident: 9. article-title: Earliest gestational age for fetal sexing in cell-free maternal plasma publication-title: Prenat. Diagn. contributor: fullname: Van Der Luijt, RB – volume: 57 start-page: 92 year: 2011 end-page: 101 ident: 20. article-title: Targeted massively parallel sequencing of maternal plasma DNA permits efficient and unbiased detection of fetal alleles publication-title: Clin. Chem. contributor: fullname: Lun, FM – volume: 105 start-page: 19920 year: 2008 end-page: 25 ident: 71. article-title: Noninvasive prenatal diagnosis of monogenic diseases by digital size selection and relative mutation dosage on DNA in maternal plasma publication-title: PNAS contributor: fullname: Tsui, NB – volume: 11 start-page: 818 year: 2009 end-page: 21 ident: 17. article-title: Screening for fetal aneuploidy and neural tube defects. Professional Practice Guidelines Committee publication-title: Genet. Med. contributor: fullname: Driscoll, DA – volume: 33 start-page: 547 year: 2013 end-page: 54 ident: 82. article-title: Noninvasive fetal genome sequencing: a primer publication-title: Prenat. Diagn. contributor: fullname: Simmons, LE – volume: 32 start-page: 1233 year: 2012 end-page: 41 ident: 22. article-title: Noninvasive prenatal aneuploidy testing of chromosomes 13, 18, 21, X, and Y, using targeted sequencing of polymorphic loci publication-title: Prenat. Diagn. contributor: fullname: Hill, M – volume: 207 start-page: 374.e1 year: 2012 end-page: 6 ident: 43. article-title: Noninvasive prenatal testing for fetal trisomies in a routinely screened first-trimester population publication-title: Am. J. Obstet. Gynecol. contributor: fullname: Ashoor, G – volume: 35 start-page: 656 year: 2015 end-page: 62 ident: 70. article-title: Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next-generation sequencing allows for a safer, more accurate, and comprehensive approach publication-title: Prenat. Diagn. contributor: fullname: Barrett, AN – volume: 102 start-page: 14753 year: 2005 end-page: 58 ident: 88. article-title: Detection of the placental epigenetic signature of the gene in maternal plasma publication-title: PNAS contributor: fullname: Tong, YK – volume: 5 start-page: e15244 year: 2010 ident: 91. article-title: Epigenetic-genetic chromosome dosage approach for fetal trisomy 21 detection using an autosomal genetic reference marker publication-title: PLoS ONE contributor: fullname: Tong, YK – volume: 207 start-page: 374.e1 year: 2012 end-page: 6 ident: 43. article-title: Noninvasive prenatal testing for fetal trisomies in a routinely screened first-trimester population publication-title: Am. J. Obstet. Gynecol. contributor: fullname: Syngelaki, A – volume: 92 start-page: 167 year: 2013 end-page: 76 ident: 58. article-title: Noninvasive detection of fetal subchromosome abnormalities via deep sequencing of maternal plasma publication-title: Am. J. Hum. Genet. contributor: fullname: Huang, H – volume: 5 start-page: e15244 year: 2010 ident: 91. article-title: Epigenetic-genetic chromosome dosage approach for fetal trisomy 21 detection using an autosomal genetic reference marker publication-title: PLoS ONE contributor: fullname: Akolekar, R – volume: 33 start-page: 416 year: 2013 end-page: 23 ident: 69. article-title: Safe, accurate, prenatal diagnosis of thanatophoric dysplasia using ultrasound and free fetal DNA publication-title: Prenat. Diagn. contributor: fullname: Chitty, LS – volume: 42 start-page: e31 year: 2014 ident: 60. article-title: WISECONDOR: detection of fetal aberrations from shallow sequencing maternal plasma based on a within-sample comparison scheme publication-title: Nucleic Acids Res. contributor: fullname: Straver, R – volume: 117 start-page: 3684 year: 2011 end-page: 91 ident: 73. article-title: Noninvasive prenatal diagnosis of hemophilia by microfluidics digital PCR analysis of maternal plasma DNA publication-title: Blood contributor: fullname: Tsui, NB – volume: 4 start-page: 137ra76 year: 2012 ident: 77. article-title: Noninvasive whole-genome sequencing of a human fetus publication-title: Sci. Transl. Med. contributor: fullname: Kitzman, JO – volume: 350 start-page: 485 year: 1997 end-page: 87 ident: 1. article-title: Presence of fetal DNA in maternal plasma and serum publication-title: Lancet contributor: fullname: Lo, YM – volume: 31 start-page: 519 year: 2011 end-page: 22 ident: 37. article-title: Aneuploidy screening: a position statement from a committee on behalf of the Board of the International Society for Prenatal Diagnosis, January 2011 publication-title: Prenat. Diagn. contributor: fullname: Crossley, J – volume: 58 start-page: 1026 year: 2012 end-page: 32 ident: 72. article-title: Digital PCR analysis of maternal plasma for noninvasive detection of sickle cell anemia publication-title: Clin. Chem. contributor: fullname: Chan, KC – volume: 58 start-page: 1467 year: 2012 end-page: 75 ident: 74. article-title: Noninvasive prenatal diagnosis of monogenic diseases by targeted massively parallel sequencing of maternal plasma: application to β-thalassemia publication-title: Clin. Chem. contributor: fullname: Liao, GJ – volume: 39 start-page: 457 year: 2007 end-page: 66 ident: 85. article-title: Distribution, silencing potential and evolutionary impact of promoter DNA methylation in the human genome publication-title: Nat. Genet. contributor: fullname: Hellmann, I – volume: 51 start-page: 197 year: 2013 end-page: 204 ident: 15. article-title: Clinical applications of maternal plasma fetal DNA analysis: translating the fruits of 15 years of research publication-title: Clin. Chem. Lab. Med. contributor: fullname: Lo, YM – volume: 7 start-page: e38154 year: 2012 ident: 21. article-title: Noninvasive prenatal diagnosis of fetal trisomy 21 by allelic ratio analysis using targeted massively parallel sequencing of maternal plasma DNA publication-title: PLoS ONE contributor: fullname: Liao, GJ – volume: 35 start-page: 156 year: 2014 end-page: 73 ident: 34. article-title: Analysis of cell-free DNA in maternal blood in screening for aneuploidies: meta-analysis publication-title: Fetal Diagn. Ther. contributor: fullname: Quezada, MS – volume: 33 start-page: 602 year: 2013 end-page: 8 ident: 48. article-title: Secondary findings from non-invasive prenatal testing for common fetal aneuploidies by whole genome sequencing as a clinical service publication-title: Prenat. Diagn. contributor: fullname: Lau, TK – volume: 119 start-page: 890 year: 2012 end-page: 901 ident: 31. article-title: Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing publication-title: Obstet. Gynecol. contributor: fullname: Platt, LD – volume: 32 start-page: 730 year: 2012 end-page: 34 ident: 52. article-title: DNA sequencing of maternal plasma to identify Down syndrome and other trisomies in multiple gestations publication-title: Prenat. Diagn. contributor: fullname: Canick, JA – volume: 2 start-page: 61ra91 year: 2010 ident: 13. article-title: Maternal plasma DNA sequencing reveals the genome-wide genetic and mutational profile of the fetus publication-title: Sci. Transl. Med. contributor: fullname: Chan, KC – volume: 342 start-page: c7401 year: 2011 ident: 26. article-title: Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study publication-title: BMJ contributor: fullname: Chiu, RW – volume: 102 start-page: 14753 year: 2005 end-page: 58 ident: 88. article-title: Detection of the placental epigenetic signature of the gene in maternal plasma publication-title: PNAS contributor: fullname: Chim, SS – volume: 105 start-page: 20458 year: 2008 end-page: 63 ident: 18. article-title: Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma publication-title: PNAS contributor: fullname: Chiu, RW – volume: 32 start-page: 1225 year: 2012 end-page: 32 ident: 44. article-title: Clinical application of massively parallel sequencing-based prenatal noninvasive fetal trisomy test for trisomies 21 and 18 in 11,105 pregnancies with mixed risk factors publication-title: Prenat. Diagn. contributor: fullname: Ren, J – volume: 32 start-page: 1233 year: 2012 end-page: 41 ident: 22. article-title: Noninvasive prenatal aneuploidy testing of chromosomes 13, 18, 21, X, and Y, using targeted sequencing of polymorphic loci publication-title: Prenat. Diagn. contributor: fullname: Gemelos, G – volume: 33 start-page: 575 year: 2013 end-page: 79 ident: 33. article-title: Validation of targeted sequencing of single-nucleotide polymorphisms for non-invasive prenatal detection of aneuploidy of chromosomes 13, 18, 21, X, and Y publication-title: Prenat. Diagn. contributor: fullname: Gil, M – volume: 32 start-page: S17 issue: Suppl. year: 2011 end-page: 20 ident: 105. article-title: Cell-free nucleic acids as potential markers for preeclampsia publication-title: Placenta contributor: fullname: Hahn, S – volume: 6 start-page: e22 year: 2008 ident: 86. article-title: A novel CpG island set identifies tissue-specific methylation at developmental gene loci publication-title: PLoS Biol. contributor: fullname: Desousa, D – volume: 5 start-page: 18 year: 2013 ident: 78. article-title: Haplotype-assisted accurate non-invasive fetal whole genome recovery through maternal plasma sequencing publication-title: Genome Med. contributor: fullname: Chen, S – volume: 58 start-page: 1148 year: 2012 end-page: 51 ident: 56. article-title: Detection of microdeletion 22q11.2 in a fetus by next-generation sequencing of maternal plasma publication-title: Clin. Chem. contributor: fullname: Deciu, C – volume: 212 start-page: 332.e1 year: 2015 end-page: 9 ident: 62. article-title: Expanding the scope of noninvasive prenatal testing: detection of fetal microdeletion syndromes publication-title: Am. J. Obstet. Gynecol. contributor: fullname: Wapner, RJ – volume: 13 start-page: 218 year: 2007 end-page: 23 ident: 101. article-title: Plasma placental RNA allelic ratio permits noninvasive prenatal chromosomal aneuploidy detection publication-title: Nat. Med. contributor: fullname: Lo, YM – volume: 92 start-page: 167 year: 2013 end-page: 76 ident: 58. article-title: Noninvasive detection of fetal subchromosome abnormalities via deep sequencing of maternal plasma publication-title: Am. J. Hum. Genet. contributor: fullname: Srinivasan, A – volume: 17 start-page: 510 year: 2011 end-page: 13 ident: 94. article-title: Fetal-specific DNA methylation ratio permits noninvasive prenatal diagnosis of trisomy 21 publication-title: Nat. Med. contributor: fullname: Papageorgiou, EA – volume: 33 start-page: 602 year: 2013 end-page: 8 ident: 48. article-title: Secondary findings from non-invasive prenatal testing for common fetal aneuploidies by whole genome sequencing as a clinical service publication-title: Prenat. Diagn. contributor: fullname: Jiang, FM – volume: 33 start-page: 675 year: 2013 end-page: 81 ident: 53. article-title: Noninvasive twin zygosity assessment and aneuploidy detection by maternal plasma DNA sequencing publication-title: Prenat. Diagn. contributor: fullname: Liao, GJ – volume: 29 start-page: 51 year: 2011 end-page: 57 ident: 79. article-title: Whole-genome molecular haplotyping of single cells publication-title: Nat. Biotechnol. contributor: fullname: Fan, HC – volume: 76 start-page: 1453 year: 1979 end-page: 55 ident: 3. article-title: Fetal cells in the blood of pregnant women: detection and enrichment by fluorescence-activated cell sorting publication-title: PNAS contributor: fullname: Bianchi, DW – volume: 50 start-page: 88 year: 2004 end-page: 92 ident: 12. article-title: Size distributions of maternal and fetal DNA in maternal plasma publication-title: Clin. Chem. contributor: fullname: Hui, AB – volume: 29 start-page: 51 year: 2011 end-page: 57 ident: 79. article-title: Whole-genome molecular haplotyping of single cells publication-title: Nat. Biotechnol. contributor: fullname: Wang, J – volume: 59 start-page: 1583 year: 2013 end-page: 94 ident: 11. article-title: Noninvasive prenatal methylomic analysis by genomewide bisulfite sequencing of maternal plasma DNA publication-title: Clin. Chem. contributor: fullname: Lun, FM – volume: 64 start-page: 218 year: 1999 end-page: 24 ident: 6. article-title: Rapid clearance of fetal DNA from maternal plasma publication-title: Am. J. Hum. Genet. contributor: fullname: Zhang, J – volume: 204 start-page: 205.e1 year: 2011 end-page: 11 ident: 29. article-title: Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: a study in a clinical setting publication-title: Am. J. Obstet. Gynecol. contributor: fullname: Ehrich, M – volume: 38 start-page: 1378 year: 2006 end-page: 85 ident: 84. article-title: DNA methylation profiling of human chromosomes 6, 20 and 22 publication-title: Nat. Genet. contributor: fullname: Cortese, R – volume: 23 start-page: 232 year: 2003 end-page: 34 ident: 65. article-title: Huntington disease-unaffected fetus diagnosed from maternal plasma using QF-PCR publication-title: Prenat. Diagn. contributor: fullname: González-González, MC – volume: 23 start-page: 232 year: 2003 end-page: 34 ident: 65. article-title: Huntington disease-unaffected fetus diagnosed from maternal plasma using QF-PCR publication-title: Prenat. Diagn. contributor: fullname: Trujillo, MJ – volume: 54 start-page: 1664 year: 2008 end-page: 72 ident: 5. article-title: Microfluidics digital PCR reveals a higher than expected fraction of fetal DNA in maternal plasma publication-title: Clin. Chem. contributor: fullname: Chiu, RW – volume: 350 start-page: 485 year: 1997 end-page: 87 ident: 1. article-title: Presence of fetal DNA in maternal plasma and serum publication-title: Lancet contributor: fullname: Chamberlain, PF – volume: 33 start-page: 598 year: 2013 end-page: 601 ident: 51. article-title: Discordant results between fetal karyotyping and non-invasive prenatal testing by maternal plasma sequencing in a case of uniparental disomy 21 due to trisomic rescue publication-title: Prenat. Diagn. contributor: fullname: Pan, M – volume: 18 start-page: 1518 year: 2008 end-page: 29 ident: 87. article-title: An integrated resource for genome-wide identification and analysis of human tissue-specific differentially methylated regions (tDMRs) publication-title: Genome Res. contributor: fullname: Down, TA – volume: 13 start-page: 218 year: 2007 end-page: 23 ident: 101. article-title: Plasma placental RNA allelic ratio permits noninvasive prenatal chromosomal aneuploidy detection publication-title: Nat. Med. contributor: fullname: Chiu, RW – volume: 204 start-page: 205.e1 year: 2011 end-page: 11 ident: 29. article-title: Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: a study in a clinical setting publication-title: Am. J. Obstet. Gynecol. contributor: fullname: Deciu, C – volume: 119 start-page: 890 year: 2012 end-page: 901 ident: 31. article-title: Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing publication-title: Obstet. Gynecol. contributor: fullname: Bianchi, DW – volume: 22 start-page: 291 year: 2013 end-page: 95 ident: 39. article-title: Noninvasive prenatal testing noninvasive prenatal diagnosis: the position of the National Society of Genetic Counselors publication-title: J. Genet. Couns. contributor: fullname: Ormond, KE – volume: 9 start-page: e107318 year: 2014 ident: 97. article-title: Comprehensive analysis of preeclampsia-associated DNA methylation in the placenta publication-title: PLoS ONE contributor: fullname: Shaw, P – volume: 110 start-page: 687 year: 2007 end-page: 94 ident: 2. article-title: Procedure-related complications of amniocentesis and chorionic villous sampling: a systematic review publication-title: Obstet. Gynecol. contributor: fullname: Mujezinovic, F – volume: 46 start-page: 301 year: 2000 end-page: 2 ident: 66. article-title: Prenatal diagnosis of myotonic dystrophy using fetal DNA obtained from maternal plasma publication-title: Clin. Chem. contributor: fullname: Gennarelli, M – volume: 18 start-page: 1006 year: 2010 end-page: 12 ident: 95. article-title: DNA methylation profiling of human placentas reveals promoter hypomethylation of multiple genes in early-onset preeclampsia publication-title: Eur. J. Hum. Genet. contributor: fullname: von Dadelszen, P – volume: 32 start-page: 730 year: 2012 end-page: 34 ident: 52. article-title: DNA sequencing of maternal plasma to identify Down syndrome and other trisomies in multiple gestations publication-title: Prenat. Diagn. contributor: fullname: Kloza, EM – volume: 29 start-page: 59 year: 2011 end-page: 63 ident: 80. article-title: Haplotype-resolved genome sequencing of a Gujarati Indian individual publication-title: Nat. Biotechnol. contributor: fullname: Adey, A – volume: 365 start-page: 1847 year: 2011 end-page: 48 ident: 55. article-title: Noninvasive prenatal diagnosis of a fetal microdeletion syndrome publication-title: N. Engl. J. Med. contributor: fullname: Chu, T – volume: 42 start-page: e31 year: 2014 ident: 60. article-title: WISECONDOR: detection of fetal aberrations from shallow sequencing maternal plasma based on a within-sample comparison scheme publication-title: Nucleic Acids Res. contributor: fullname: Holstege, H – volume: 52 start-page: 2211 year: 2006 end-page: 18 ident: 89. article-title: Hypermethylated in maternal plasma: a universal fetal DNA marker that improves the reliability of noninvasive prenatal diagnosis publication-title: Clin. Chem. contributor: fullname: Chan, KC – volume: 56 start-page: 90 year: 2010 end-page: 98 ident: 92. article-title: Noninvasive prenatal detection of trisomy 21 by an epigenetic-genetic chromosome-dosage approach publication-title: Clin. Chem. contributor: fullname: Chiu, RW – volume: 46 start-page: 301 year: 2000 end-page: 2 ident: 66. article-title: Prenatal diagnosis of myotonic dystrophy using fetal DNA obtained from maternal plasma publication-title: Clin. Chem. contributor: fullname: Novelli, G – volume: 9 start-page: e107318 year: 2014 ident: 97. article-title: Comprehensive analysis of preeclampsia-associated DNA methylation in the placenta publication-title: PLoS ONE contributor: fullname: Bunce, K – volume: 32 start-page: S17 issue: Suppl. year: 2011 end-page: 20 ident: 105. article-title: Cell-free nucleic acids as potential markers for preeclampsia publication-title: Placenta contributor: fullname: Lapaire, O – volume: 57 start-page: 1042 year: 2011 end-page: 49 ident: 27. article-title: Optimal detection of fetal chromosomal abnormalities by massively parallel DNA sequencing of cell-free fetal DNA from maternal blood publication-title: Clin. Chem. contributor: fullname: Comstock, D – volume: 487 start-page: 190 year: 2012 end-page: 95 ident: 81. article-title: Accurate whole-genome sequencing and haplotyping from 10 to 20 human cells publication-title: Nature contributor: fullname: Kermani, BG – volume: 41 start-page: 289 year: 2004 end-page: 92 ident: 7. article-title: Detection of cell free placental DNA in maternal plasma: direct evidence from three cases of confined placental mosaicism publication-title: J. Med. Genet. contributor: fullname: Miura, K – volume: 372 start-page: 1639 year: 2015 end-page: 45 ident: 49. article-title: Copy-number variation and false positive prenatal aneuploidy screening results publication-title: N. Engl. J. Med. contributor: fullname: Simmons, LE – volume: 56 start-page: 90 year: 2010 end-page: 98 ident: 92. article-title: Noninvasive prenatal detection of trisomy 21 by an epigenetic-genetic chromosome-dosage approach publication-title: Clin. Chem. contributor: fullname: Jin, S – volume: 212 start-page: 332.e1 year: 2015 end-page: 9 ident: 62. article-title: Expanding the scope of noninvasive prenatal testing: detection of fetal microdeletion syndromes publication-title: Am. J. Obstet. Gynecol. contributor: fullname: Levy, B – volume: 13 start-page: 913 year: 2011 end-page: 20 ident: 30. article-title: DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study publication-title: Genet. Med. contributor: fullname: Kloza, EM – volume: 26 start-page: 28 year: 2005 end-page: 32 ident: 36. article-title: Placental volume measured by three-dimensional ultrasound at 11 to 13 + 6 weeks of gestation: relation to chromosomal defects publication-title: Ultrasound Obstet. Gynecol. contributor: fullname: Wegrzyn, P – volume: 38 start-page: 1378 year: 2006 end-page: 85 ident: 84. article-title: DNA methylation profiling of human chromosomes 6, 20 and 22 publication-title: Nat. Genet. contributor: fullname: Lewin, J – volume: 9 start-page: e88484 year: 2014 ident: 42. article-title: Maternal plasma fetal DNA fractions in pregnancies with low and high risks for fetal chromosomal aneuploidies publication-title: PLoS ONE contributor: fullname: Sahota, D – volume: 5 start-page: e15069 year: 2010 ident: 93. article-title: Systematic identification of placental epigenetic signatures for the noninvasive prenatal detection of Edwards syndrome publication-title: PLoS ONE contributor: fullname: Lee, WS – volume: 29 start-page: 495 year: 2009 end-page: 504 ident: 99. article-title: A strategy for identifying circulating placental RNA markers for fetal growth assessment publication-title: Prenat. Diagn. contributor: fullname: Pang, WW – volume: 58 start-page: 1148 year: 2012 end-page: 51 ident: 56. article-title: Detection of microdeletion 22q11.2 in a fetus by next-generation sequencing of maternal plasma publication-title: Clin. Chem. contributor: fullname: Jensen, TJ – volume: 58 start-page: 1026 year: 2012 end-page: 32 ident: 72. article-title: Digital PCR analysis of maternal plasma for noninvasive detection of sickle cell anemia publication-title: Clin. Chem. contributor: fullname: Chitty, LS – volume: 9 start-page: e88484 year: 2014 ident: 42. article-title: Maternal plasma fetal DNA fractions in pregnancies with low and high risks for fetal chromosomal aneuploidies publication-title: PLoS ONE contributor: fullname: Heung, MM – volume: 5 start-page: e15069 year: 2010 ident: 93. article-title: Systematic identification of placental epigenetic signatures for the noninvasive prenatal detection of Edwards syndrome publication-title: PLoS ONE contributor: fullname: Lam, YM – volume: 52 start-page: 2194 year: 2006 end-page: 202 ident: 90. article-title: Noninvasive prenatal detection of fetal trisomy 18 by epigenetic allelic ratio analysis in maternal plasma: theoretical and empirical considerations publication-title: Clin. Chem. contributor: fullname: Chiu, RW – volume: 33 start-page: 575 year: 2013 end-page: 79 ident: 33. article-title: Validation of targeted sequencing of single-nucleotide polymorphisms for non-invasive prenatal detection of aneuploidy of chromosomes 13, 18, 21, X, and Y publication-title: Prenat. Diagn. contributor: fullname: Nicolaides, KH – volume: 15 start-page: 395 year: 2013 end-page: 98 ident: 40. article-title: ACMG statement on noninvasive prenatal screening for fetal aneuploidy publication-title: Genet. Med. contributor: fullname: Gregg, AR – volume: 15 start-page: 395 year: 2013 end-page: 98 ident: 40. article-title: ACMG statement on noninvasive prenatal screening for fetal aneuploidy publication-title: Genet. Med. contributor: fullname: Best, RG – volume: 60 start-page: 251 year: 2014 end-page: 59 ident: 50. article-title: Maternal mosaicism is a significant contributor to discordant sex chromosomal aneuploidies associated with noninvasive prenatal testing publication-title: Clin. Chem. contributor: fullname: Tian, F – volume: 18 start-page: 1006 year: 2010 end-page: 12 ident: 95. article-title: DNA methylation profiling of human placentas reveals promoter hypomethylation of multiple genes in early-onset preeclampsia publication-title: Eur. J. Hum. Genet. contributor: fullname: Peñaherrera, MS – volume: 39 start-page: 457 year: 2007 end-page: 66 ident: 85. article-title: Distribution, silencing potential and evolutionary impact of promoter DNA methylation in the human genome publication-title: Nat. Genet. contributor: fullname: Stadler, MB – volume: 339 start-page: 1734 year: 1998 end-page: 38 ident: 64. article-title: Prenatal diagnosis of fetal RhD status by molecular analysis of maternal plasma publication-title: N. Engl. J. Med. contributor: fullname: Fidler, C – volume: 111 start-page: 7361 year: 2014 end-page: 66 ident: 104. article-title: Noninvasive in vivo monitoring of tissue-specific global gene expression in humans publication-title: PNAS contributor: fullname: Koh, W – volume: 18 start-page: 1518 year: 2008 end-page: 29 ident: 87. article-title: An integrated resource for genome-wide identification and analysis of human tissue-specific differentially methylated regions (tDMRs) publication-title: Genome Res. contributor: fullname: Rakyan, VK – volume: 119 start-page: 890 year: 2012 end-page: 901 ident: 31. article-title: Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing publication-title: Obstet. Gynecol. contributor: fullname: Goldberg, JD – volume: 365 start-page: 1847 year: 2011 end-page: 48 ident: 55. article-title: Noninvasive prenatal diagnosis of a fetal microdeletion syndrome publication-title: N. Engl. J. Med. contributor: fullname: Peters, D – volume: 32 start-page: S17 issue: Suppl. year: 2011 end-page: 20 ident: 105. article-title: Cell-free nucleic acids as potential markers for preeclampsia publication-title: Placenta contributor: fullname: Rusterholz, C – volume: 19 start-page: 697 year: 2013 end-page: 708 ident: 96. article-title: Widespread DNA hypomethylation at gene enhancer regions in placentas associated with early-onset pre-eclampsia publication-title: Mol. Hum. Reprod. contributor: fullname: Lim, BK – volume: 51 start-page: 197 year: 2013 end-page: 204 ident: 15. article-title: Clinical applications of maternal plasma fetal DNA analysis: translating the fruits of 15 years of research publication-title: Clin. Chem. Lab. Med. contributor: fullname: Chiu, RW – volume: 60 start-page: 954 year: 2014 end-page: 62 ident: 103. article-title: Maternal plasma RNA sequencing for genome-wide transcriptomic profiling and identification of pregnancy-associated transcripts publication-title: Clin. Chem. contributor: fullname: Jiang, P – volume: 46 start-page: 1832 year: 2000 end-page: 34 ident: 98. article-title: Presence of fetal RNA in maternal plasma publication-title: Clin. Chem. contributor: fullname: Leung, TN – volume: 5 start-page: 18 year: 2013 ident: 78. article-title: Haplotype-assisted accurate non-invasive fetal whole genome recovery through maternal plasma sequencing publication-title: Genome Med. contributor: fullname: Ge, H – volume: 45 start-page: 249 year: 2015 end-page: 66 ident: 35. article-title: Analysis of cell-free DNA in maternal blood in screening for fetal aneuploidies: updated meta-analysis publication-title: Ultrasound Obstet. Gynecol. contributor: fullname: Revello, R – volume: 22 start-page: 291 year: 2013 end-page: 95 ident: 39. article-title: Noninvasive prenatal testing noninvasive prenatal diagnosis: the position of the National Society of Genetic Counselors publication-title: J. Genet. Couns. contributor: fullname: Cronister, A – volume: 32 start-page: 1233 year: 2012 end-page: 41 ident: 22. article-title: Noninvasive prenatal aneuploidy testing of chromosomes 13, 18, 21, X, and Y, using targeted sequencing of polymorphic loci publication-title: Prenat. Diagn. contributor: fullname: Zimmermann, B – volume: 206 start-page: 319 e1 year: 2012 end-page: 9 ident: 23. article-title: Noninvasive prenatal detection and selective analysis of cell-free DNA obtained from maternal blood: evaluation for trisomy 21 and trisomy 18 publication-title: Am. J. Obstet. Gynecol. contributor: fullname: Wang, ET – volume: 8 start-page: e60968 year: 2013 ident: 57. article-title: Noninvasive prenatal molecular karyotyping from maternal plasma publication-title: PLoS ONE contributor: fullname: Jiang, P – volume: 52 start-page: 2194 year: 2006 end-page: 202 ident: 90. article-title: Noninvasive prenatal detection of fetal trisomy 18 by epigenetic allelic ratio analysis in maternal plasma: theoretical and empirical considerations publication-title: Clin. Chem. contributor: fullname: Tong, YK – volume: 38 start-page: 1378 year: 2006 end-page: 85 ident: 84. article-title: DNA methylation profiling of human chromosomes 6, 20 and 22 publication-title: Nat. Genet. contributor: fullname: Eckhardt, F – volume: 61 start-page: 608 year: 2015 end-page: 16 ident: 61. article-title: Detection of fetal subchromosomal abnormalities by sequencing circulating cell-free DNA from maternal plasma publication-title: Clin. Chem. contributor: fullname: Zhao, C – volume: 372 start-page: 1589 year: 2015 end-page: 97 ident: 46. article-title: Cell-free DNA analysis for noninvasive examination of trisomy publication-title: N. Engl. J. Med. contributor: fullname: Norton, ME – volume: 45 start-page: 249 year: 2015 end-page: 66 ident: 35. article-title: Analysis of cell-free DNA in maternal blood in screening for fetal aneuploidies: updated meta-analysis publication-title: Ultrasound Obstet. Gynecol. contributor: fullname: Quezada, MS – volume: 17 start-page: 510 year: 2011 end-page: 13 ident: 94. article-title: Fetal-specific DNA methylation ratio permits noninvasive prenatal diagnosis of trisomy 21 publication-title: Nat. Med. contributor: fullname: Tsaliki, E – volume: 13 start-page: 913 year: 2011 end-page: 20 ident: 30. article-title: DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study publication-title: Genet. Med. contributor: fullname: Lambert-Messerlian, GM – volume: 9 start-page: e88484 year: 2014 ident: 42. article-title: Maternal plasma fetal DNA fractions in pregnancies with low and high risks for fetal chromosomal aneuploidies publication-title: PLoS ONE contributor: fullname: Hudecova, I – volume: 350 start-page: 485 year: 1997 end-page: 87 ident: 1. article-title: Presence of fetal DNA in maternal plasma and serum publication-title: Lancet contributor: fullname: Corbetta, N – volume: 29 start-page: 51 year: 2011 end-page: 57 ident: 79. article-title: Whole-genome molecular haplotyping of single cells publication-title: Nat. Biotechnol. contributor: fullname: Potanina, A – volume: 36 start-page: 282 year: 2014 end-page: 86 ident: 25. article-title: Microarray-based cell-free DNA analysis improves noninvasive prenatal testing publication-title: Fetal Diagn. Ther. contributor: fullname: Bogard, PE – volume: 105 start-page: 16266 year: 2008 end-page: 71 ident: 19. article-title: Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood publication-title: PNAS contributor: fullname: Chitkara, U – volume: 14 start-page: 296 year: 2012 end-page: 305 ident: 28. article-title: DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study publication-title: Genet. Med. contributor: fullname: Deciu, C – volume: 365 start-page: 1847 year: 2011 end-page: 48 ident: 55. article-title: Noninvasive prenatal diagnosis of a fetal microdeletion syndrome publication-title: N. Engl. J. Med. contributor: fullname: Yatsenko, SA – volume: 61 start-page: 608 year: 2015 end-page: 16 ident: 61. article-title: Detection of fetal subchromosomal abnormalities by sequencing circulating cell-free DNA from maternal plasma publication-title: Clin. Chem. contributor: fullname: Ehrich, M – volume: 29 start-page: 1218 year: 2009 end-page: 21 ident: 67. article-title: Noninvasive prenatal diagnosis of early onset primary dystonia I in maternal plasma publication-title: Prenat. Diagn. contributor: fullname: Meaney, C – volume: 487 start-page: 320 year: 2012 end-page: 24 ident: 76. article-title: Non-invasive prenatal measurement of the fetal genome publication-title: Nature contributor: fullname: Wang, J – volume: 36 start-page: 282 year: 2014 end-page: 86 ident: 25. article-title: Microarray-based cell-free DNA analysis improves noninvasive prenatal testing publication-title: Fetal Diagn. Ther. contributor: fullname: Huang, S – volume: 58 start-page: 1467 year: 2012 end-page: 75 ident: 74. article-title: Noninvasive prenatal diagnosis of monogenic diseases by targeted massively parallel sequencing of maternal plasma: application to β-thalassemia publication-title: Clin. Chem. contributor: fullname: Lam, KW – volume: 35 start-page: 156 year: 2014 end-page: 73 ident: 34. article-title: Analysis of cell-free DNA in maternal blood in screening for aneuploidies: meta-analysis publication-title: Fetal Diagn. Ther. contributor: fullname: Gil, MM – volume: 35 start-page: 656 year: 2015 end-page: 62 ident: 70. article-title: Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next-generation sequencing allows for a safer, more accurate, and comprehensive approach publication-title: Prenat. Diagn. contributor: fullname: Mason, S – volume: 33 start-page: 598 year: 2013 end-page: 601 ident: 51. article-title: Discordant results between fetal karyotyping and non-invasive prenatal testing by maternal plasma sequencing in a case of uniparental disomy 21 due to trisomic rescue publication-title: Prenat. Diagn. contributor: fullname: Li, Y – volume: 15 start-page: 121 year: 2014 end-page: 32 ident: 16. article-title: Sequencing depth and coverage: key considerations in genomic analyses publication-title: Nat. Rev. Genet. contributor: fullname: Sims, D – volume: 46 start-page: 1832 year: 2000 end-page: 34 ident: 98. article-title: Presence of fetal RNA in maternal plasma publication-title: Clin. Chem. contributor: fullname: Lo, YM – volume: 2 start-page: 61ra91 year: 2010 ident: 13. article-title: Maternal plasma DNA sequencing reveals the genome-wide genetic and mutational profile of the fetus publication-title: Sci. Transl. Med. contributor: fullname: Sun, H – volume: 32 start-page: 730 year: 2012 end-page: 34 ident: 52. article-title: DNA sequencing of maternal plasma to identify Down syndrome and other trisomies in multiple gestations publication-title: Prenat. Diagn. contributor: fullname: Lambert-Messerlian, GM – volume: 29 start-page: 495 year: 2009 end-page: 504 ident: 99. article-title: A strategy for identifying circulating placental RNA markers for fetal growth assessment publication-title: Prenat. Diagn. contributor: fullname: Sahota, D – volume: 62 start-page: 768 year: 1998 end-page: 75 ident: 4. article-title: Quantitative analysis of fetal DNA in maternal plasma and serum: implications for noninvasive prenatal diagnosis publication-title: Am. J. Hum. Genet. contributor: fullname: Lo, YM – volume: 29 start-page: 1218 year: 2009 end-page: 21 ident: 67. article-title: Noninvasive prenatal diagnosis of early onset primary dystonia I in maternal plasma publication-title: Prenat. Diagn. contributor: fullname: Norbury, G – volume: 105 start-page: 19920 year: 2008 end-page: 25 ident: 71. article-title: Noninvasive prenatal diagnosis of monogenic diseases by digital size selection and relative mutation dosage on DNA in maternal plasma publication-title: PNAS contributor: fullname: Chan, KC – volume: 59 start-page: 427 year: 2013 end-page: 35 ident: 54. article-title: Noninvasive prenatal determination of twin zygosity by maternal plasma DNA analysis publication-title: Clin. Chem. contributor: fullname: Jiang, P – volume: 487 start-page: 320 year: 2012 end-page: 24 ident: 76. article-title: Non-invasive prenatal measurement of the fetal genome publication-title: Nature contributor: fullname: Gu, W – volume: 49 start-page: 727 year: 2003 end-page: 31 ident: 100. article-title: The concentration of circulating corticotropin-releasing hormone mRNA in maternal plasma is increased in preeclampsia publication-title: Clin. Chem. contributor: fullname: Tsui, NB – volume: 207 start-page: 137.e1 year: 2012 end-page: 8 ident: 32. article-title: Non-Invasive Chromosomal Evaluation (NICE) Study: results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18 publication-title: Am. J. Obstet. Gynecol. contributor: fullname: Norton, ME – volume: 33 start-page: 675 year: 2013 end-page: 81 ident: 53. article-title: Noninvasive twin zygosity assessment and aneuploidy detection by maternal plasma DNA sequencing publication-title: Prenat. Diagn. contributor: fullname: Qu, JZ – volume: 58 start-page: 1026 year: 2012 end-page: 32 ident: 72. article-title: Digital PCR analysis of maternal plasma for noninvasive detection of sickle cell anemia publication-title: Clin. Chem. contributor: fullname: Barrett, AN – volume: 33 start-page: 575 year: 2013 end-page: 79 ident: 33. article-title: Validation of targeted sequencing of single-nucleotide polymorphisms for non-invasive prenatal detection of aneuploidy of chromosomes 13, 18, 21, X, and Y publication-title: Prenat. Diagn. contributor: fullname: Syngelaki, A – volume: 5 start-page: e15069 year: 2010 ident: 93. article-title: Systematic identification of placental epigenetic signatures for the noninvasive prenatal detection of Edwards syndrome publication-title: PLoS ONE contributor: fullname: Tsui, DW – volume: 76 start-page: 1453 year: 1979 end-page: 55 ident: 3. article-title: Fetal cells in the blood of pregnant women: detection and enrichment by fluorescence-activated cell sorting publication-title: PNAS contributor: fullname: Herzenberg, LA – volume: 117 start-page: 3684 year: 2011 end-page: 91 ident: 73. article-title: Noninvasive prenatal diagnosis of hemophilia by microfluidics digital PCR analysis of maternal plasma DNA publication-title: Blood contributor: fullname: Chan, KC – volume: 29 start-page: 51 year: 2011 end-page: 57 ident: 79. article-title: Whole-genome molecular haplotyping of single cells publication-title: Nat. Biotechnol. contributor: fullname: Quake, SR – volume: 35 start-page: 656 year: 2015 end-page: 62 ident: 70. article-title: Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next-generation sequencing allows for a safer, more accurate, and comprehensive approach publication-title: Prenat. Diagn. contributor: fullname: Chitty, LS – volume: 58 start-page: 1026 year: 2012 end-page: 32 ident: 72. article-title: Digital PCR analysis of maternal plasma for noninvasive detection of sickle cell anemia publication-title: Clin. Chem. contributor: fullname: McDonnell, TC – volume: 62 start-page: 768 year: 1998 end-page: 75 ident: 4. article-title: Quantitative analysis of fetal DNA in maternal plasma and serum: implications for noninvasive prenatal diagnosis publication-title: Am. J. Hum. Genet. contributor: fullname: Lau, TK – volume: 52 start-page: 2211 year: 2006 end-page: 18 ident: 89. article-title: Hypermethylated in maternal plasma: a universal fetal DNA marker that improves the reliability of noninvasive prenatal diagnosis publication-title: Clin. Chem. contributor: fullname: Ding, C – volume: 48 start-page: 421 year: 2002 end-page: 27 ident: 10. article-title: Predominant hematopoietic origin of cell-free DNA in plasma and serum after sex-mismatched bone marrow transplantation publication-title: Clin. Chem. contributor: fullname: Chik, KW – volume: 92 start-page: 167 year: 2013 end-page: 76 ident: 58. article-title: Noninvasive detection of fetal subchromosome abnormalities via deep sequencing of maternal plasma publication-title: Am. J. Hum. Genet. contributor: fullname: Bianchi, DW – volume: 6 start-page: e22 year: 2008 ident: 86. article-title: A novel CpG island set identifies tissue-specific methylation at developmental gene loci publication-title: PLoS Biol. contributor: fullname: Illingworth, R – volume: 33 start-page: 416 year: 2013 end-page: 23 ident: 69. article-title: Safe, accurate, prenatal diagnosis of thanatophoric dysplasia using ultrasound and free fetal DNA publication-title: Prenat. Diagn. contributor: fullname: Khalil, A – volume: 57 start-page: 92 year: 2011 end-page: 101 ident: 20. article-title: Targeted massively parallel sequencing of maternal plasma DNA permits efficient and unbiased detection of fetal alleles publication-title: Clin. Chem. contributor: fullname: Zheng, YW – volume: 33 start-page: 612 year: 2013 end-page: 13 ident: 47. article-title: Cell-free fetal DNA sex determination identified a maternal SRY gene with a known X chromosome deletion publication-title: Prenat. Diagn. contributor: fullname: Searle, CJ – volume: 27 start-page: 415 year: 2007 end-page: 18 ident: 8. article-title: Free fetal DNA in maternal plasma in anembryonic pregnancies: confirmation that the origin is the trophoblast publication-title: Prenat. Diagn. contributor: fullname: Jones, M – volume: 35 start-page: 156 year: 2014 end-page: 73 ident: 34. article-title: Analysis of cell-free DNA in maternal blood in screening for aneuploidies: meta-analysis publication-title: Fetal Diagn. Ther. contributor: fullname: Akolekar, R – volume: 56 start-page: 90 year: 2010 end-page: 98 ident: 92. article-title: Noninvasive prenatal detection of trisomy 21 by an epigenetic-genetic chromosome-dosage approach publication-title: Clin. Chem. contributor: fullname: Tong, YK – volume: 48 start-page: 421 year: 2002 end-page: 27 ident: 10. article-title: Predominant hematopoietic origin of cell-free DNA in plasma and serum after sex-mismatched bone marrow transplantation publication-title: Clin. Chem. contributor: fullname: Chiu, RW – volume: 32 start-page: 1225 year: 2012 end-page: 32 ident: 44. article-title: Clinical application of massively parallel sequencing-based prenatal noninvasive fetal trisomy test for trisomies 21 and 18 in 11,105 pregnancies with mixed risk factors publication-title: Prenat. Diagn. contributor: fullname: Dan, S – volume: 35 start-page: 177 year: 2013 end-page: 83 ident: 41. article-title: Current status in non-invasive prenatal detection of Down syndrome, trisomy 18, and trisomy 13 using cell-free DNA in maternal plasma publication-title: J. Obstet. Gynaecol. Can. contributor: fullname: Langlois, S – volume: 64 start-page: 218 year: 1999 end-page: 24 ident: 6. article-title: Rapid clearance of fetal DNA from maternal plasma publication-title: Am. J. Hum. Genet. contributor: fullname: Leung, TN – volume: 2 start-page: 61ra91 year: 2010 ident: 13. article-title: Maternal plasma DNA sequencing reveals the genome-wide genetic and mutational profile of the fetus publication-title: Sci. Transl. Med. contributor: fullname: Lo, YM – volume: 33 start-page: 612 year: 2013 end-page: 13 ident: 47. article-title: Cell-free fetal DNA sex determination identified a maternal SRY gene with a known X chromosome deletion publication-title: Prenat. Diagn. contributor: fullname: Daniels, G – volume: 207 start-page: 137.e1 year: 2012 end-page: 8 ident: 32. article-title: Non-Invasive Chromosomal Evaluation (NICE) Study: results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18 publication-title: Am. J. Obstet. Gynecol. contributor: fullname: Weiss, J – volume: 4 start-page: 137ra76 year: 2012 ident: 77. article-title: Noninvasive whole-genome sequencing of a human fetus publication-title: Sci. Transl. Med. contributor: fullname: Ventura, M – volume: 110 start-page: 687 year: 2007 end-page: 94 ident: 2. article-title: Procedure-related complications of amniocentesis and chorionic villous sampling: a systematic review publication-title: Obstet. Gynecol. contributor: fullname: Alfirevic, Z – volume: 33 start-page: 547 year: 2013 end-page: 54 ident: 82. article-title: Noninvasive fetal genome sequencing: a primer publication-title: Prenat. Diagn. contributor: fullname: Snyder, MW – volume: 42 start-page: e31 year: 2014 ident: 60. article-title: WISECONDOR: detection of fetal aberrations from shallow sequencing maternal plasma based on a within-sample comparison scheme publication-title: Nucleic Acids Res. contributor: fullname: Sistermans, EA – volume: 105 start-page: 20458 year: 2008 end-page: 63 ident: 18. article-title: Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma publication-title: PNAS contributor: fullname: Chan, KC – volume: 58 start-page: 1148 year: 2012 end-page: 51 ident: 56. article-title: Detection of microdeletion 22q11.2 in a fetus by next-generation sequencing of maternal plasma publication-title: Clin. Chem. contributor: fullname: Dzakula, Z – volume: 49 start-page: 727 year: 2003 end-page: 31 ident: 100. article-title: The concentration of circulating corticotropin-releasing hormone mRNA in maternal plasma is increased in preeclampsia publication-title: Clin. Chem. contributor: fullname: Leung, TN – volume: 36 start-page: 282 year: 2014 end-page: 86 ident: 25. article-title: Microarray-based cell-free DNA analysis improves noninvasive prenatal testing publication-title: Fetal Diagn. Ther. contributor: fullname: Juneau, K – volume: 99 start-page: E1022 year: 2014 end-page: 30 ident: 75. article-title: Noninvasive prenatal diagnosis of congenital adrenal hyperplasia using cell-free fetal DNA in maternal plasma publication-title: J. Clin. Endocrinol. Metab. contributor: fullname: Yuen, T – volume: 117 start-page: 3684 year: 2011 end-page: 91 ident: 73. article-title: Noninvasive prenatal diagnosis of hemophilia by microfluidics digital PCR analysis of maternal plasma DNA publication-title: Blood contributor: fullname: Kadir, RA – volume: 35 start-page: 177 year: 2013 end-page: 83 ident: 41. article-title: Current status in non-invasive prenatal detection of Down syndrome, trisomy 18, and trisomy 13 using cell-free DNA in maternal plasma publication-title: J. Obstet. Gynaecol. Can. contributor: fullname: Wilson, RD – volume: 37 start-page: 283 year: 2011 end-page: 89 ident: 68. article-title: New aids for the non-invasive prenatal diagnosis of achondroplasia: dysmorphic features, charts of fetal size and molecular confirmation using cell-free fetal DNA in maternal plasma publication-title: Ultrasound Obstet. Gynecol. contributor: fullname: Griffin, DR – volume: 5 start-page: e15244 year: 2010 ident: 91. article-title: Epigenetic-genetic chromosome dosage approach for fetal trisomy 21 detection using an autosomal genetic reference marker publication-title: PLoS ONE contributor: fullname: Chiu, RW – volume: 32 start-page: 3 year: 2012 end-page: 9 ident: 24. article-title: Selective analysis of cell-free DNA in maternal blood for evaluation of fetal trisomy publication-title: Prenat. Diagn. contributor: fullname: Sparks, AB – volume: 14 start-page: 296 year: 2012 end-page: 305 ident: 28. article-title: DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study publication-title: Genet. Med. contributor: fullname: Palomaki, GE – volume: 206 start-page: 319 e1 year: 2012 end-page: 9 ident: 23. article-title: Noninvasive prenatal detection and selective analysis of cell-free DNA obtained from maternal blood: evaluation for trisomy 21 and trisomy 18 publication-title: Am. J. Obstet. Gynecol. contributor: fullname: Struble, CA – volume: 99 start-page: E1022 year: 2014 end-page: 30 ident: 75. article-title: Noninvasive prenatal diagnosis of congenital adrenal hyperplasia using cell-free fetal DNA in maternal plasma publication-title: J. Clin. Endocrinol. Metab. contributor: fullname: New, MI – volume: 31 start-page: 519 year: 2011 end-page: 22 ident: 37. article-title: Aneuploidy screening: a position statement from a committee on behalf of the Board of the International Society for Prenatal Diagnosis, January 2011 publication-title: Prenat. Diagn. contributor: fullname: Borrell, A – volume: 29 start-page: 1031 year: 2009 end-page: 37 ident: 102. article-title: Non-invasive prenatal detection of fetal trisomy 18 by RNA-SNP allelic ratio analysis using maternal plasma SERPINB2 mRNA: a feasibility study publication-title: Prenat. Diagn. contributor: fullname: Leung, TY – volume: 59 start-page: 1583 year: 2013 end-page: 94 ident: 11. article-title: Noninvasive prenatal methylomic analysis by genomewide bisulfite sequencing of maternal plasma DNA publication-title: Clin. Chem. contributor: fullname: Chiu, RW – volume: 32 start-page: 3 year: 2012 end-page: 9 ident: 24. article-title: Selective analysis of cell-free DNA in maternal blood for evaluation of fetal trisomy publication-title: Prenat. Diagn. contributor: fullname: Struble, CA – volume: 105 start-page: 19920 year: 2008 end-page: 25 ident: 71. article-title: Noninvasive prenatal diagnosis of monogenic diseases by digital size selection and relative mutation dosage on DNA in maternal plasma publication-title: PNAS contributor: fullname: Lun, FM – volume: 29 start-page: 1031 year: 2009 end-page: 37 ident: 102. article-title: Non-invasive prenatal detection of fetal trisomy 18 by RNA-SNP allelic ratio analysis using maternal plasma SERPINB2 mRNA: a feasibility study publication-title: Prenat. Diagn. contributor: fullname: Wong, BC – volume: 29 start-page: 1031 year: 2009 end-page: 37 ident: 102. article-title: Non-invasive prenatal detection of fetal trisomy 18 by RNA-SNP allelic ratio analysis using maternal plasma SERPINB2 mRNA: a feasibility study publication-title: Prenat. Diagn. contributor: fullname: Tsui, NB – volume: 23 start-page: 232 year: 2003 end-page: 34 ident: 65. article-title: Huntington disease-unaffected fetus diagnosed from maternal plasma using QF-PCR publication-title: Prenat. Diagn. contributor: fullname: Rodríguez de Alba, M – volume: 33 start-page: 416 year: 2013 end-page: 23 ident: 69. article-title: Safe, accurate, prenatal diagnosis of thanatophoric dysplasia using ultrasound and free fetal DNA publication-title: Prenat. Diagn. contributor: fullname: Barrett, AN – volume: 46 start-page: 301 year: 2000 end-page: 2 ident: 66. article-title: Prenatal diagnosis of myotonic dystrophy using fetal DNA obtained from maternal plasma publication-title: Clin. Chem. contributor: fullname: Amicucci, P – volume: 33 start-page: 602 year: 2013 end-page: 8 ident: 48. article-title: Secondary findings from non-invasive prenatal testing for common fetal aneuploidies by whole genome sequencing as a clinical service publication-title: Prenat. Diagn. contributor: fullname: Stevenson, RJ – volume: 39 start-page: 457 year: 2007 end-page: 66 ident: 85. article-title: Distribution, silencing potential and evolutionary impact of promoter DNA methylation in the human genome publication-title: Nat. Genet. contributor: fullname: Weber, M – volume: 206 start-page: 319 e1 year: 2012 end-page: 9 ident: 23. article-title: Noninvasive prenatal detection and selective analysis of cell-free DNA obtained from maternal blood: evaluation for trisomy 21 and trisomy 18 publication-title: Am. J. Obstet. Gynecol. contributor: fullname: Sparks, AB – volume: 37 start-page: 283 year: 2011 end-page: 89 ident: 68. article-title: New aids for the non-invasive prenatal diagnosis of achondroplasia: dysmorphic features, charts of fetal size and molecular confirmation using cell-free fetal DNA in maternal plasma publication-title: Ultrasound Obstet. Gynecol. contributor: fullname: Chitty, LS – volume: 48 start-page: 942 year: 2015 end-page: 47 ident: 106. article-title: Maternal plasma RNA sequencing publication-title: Clin. Biochem. contributor: fullname: Oudejans, CBM – volume: 15 start-page: 395 year: 2013 end-page: 98 ident: 40. article-title: ACMG statement on noninvasive prenatal screening for fetal aneuploidy publication-title: Genet. Med. contributor: fullname: Gross, SJ – volume: 370 start-page: 799 year: 2014 end-page: 808 ident: 45. article-title: DNA sequencing versus standard prenatal aneuploidy screening publication-title: N. Engl. J. Med. contributor: fullname: Parker, RL – volume: 32 start-page: 3 year: 2012 end-page: 9 ident: 24. article-title: Selective analysis of cell-free DNA in maternal blood for evaluation of fetal trisomy publication-title: Prenat. Diagn. contributor: fullname: Wang, ET – volume: 46 start-page: 1832 year: 2000 end-page: 34 ident: 98. article-title: Presence of fetal RNA in maternal plasma publication-title: Clin. Chem. contributor: fullname: Poon, LL – volume: 4 start-page: 137ra76 year: 2012 ident: 77. article-title: Noninvasive whole-genome sequencing of a human fetus publication-title: Sci. Transl. Med. contributor: fullname: Snyder, MW – volume: 372 start-page: 1589 year: 2015 end-page: 97 ident: 46. article-title: Cell-free DNA analysis for noninvasive examination of trisomy publication-title: N. Engl. J. Med. contributor: fullname: Jacobsson, B – volume: 15 start-page: 121 year: 2014 end-page: 32 ident: 16. article-title: Sequencing depth and coverage: key considerations in genomic analyses publication-title: Nat. Rev. Genet. contributor: fullname: Ilott, NE – volume: 29 start-page: 495 year: 2009 end-page: 504 ident: 99. article-title: A strategy for identifying circulating placental RNA markers for fetal growth assessment publication-title: Prenat. Diagn. contributor: fullname: Tsui, MH – volume: 27 start-page: 415 year: 2007 end-page: 18 ident: 8. article-title: Free fetal DNA in maternal plasma in anembryonic pregnancies: confirmation that the origin is the trophoblast publication-title: Prenat. Diagn. contributor: fullname: Maddocks, D – volume: 60 start-page: 954 year: 2014 end-page: 62 ident: 103. article-title: Maternal plasma RNA sequencing for genome-wide transcriptomic profiling and identification of pregnancy-associated transcripts publication-title: Clin. Chem. contributor: fullname: Tsui, NB – volume: 18 start-page: 1006 year: 2010 end-page: 12 ident: 95. article-title: DNA methylation profiling of human placentas reveals promoter hypomethylation of multiple genes in early-onset preeclampsia publication-title: Eur. J. Hum. Genet. contributor: fullname: Yuen, RK – volume: 105 start-page: 20458 year: 2008 end-page: 63 ident: 18. article-title: Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma publication-title: PNAS contributor: fullname: Gao, Y – volume: 26 start-page: 28 year: 2005 end-page: 32 ident: 36. article-title: Placental volume measured by three-dimensional ultrasound at 11 to 13 + 6 weeks of gestation: relation to chromosomal defects publication-title: Ultrasound Obstet. Gynecol. contributor: fullname: Faro, C – volume: 37 start-page: 283 year: 2011 end-page: 89 ident: 68. article-title: New aids for the non-invasive prenatal diagnosis of achondroplasia: dysmorphic features, charts of fetal size and molecular confirmation using cell-free fetal DNA in maternal plasma publication-title: Ultrasound Obstet. Gynecol. contributor: fullname: Meaney, C – volume: 60 start-page: 954 year: 2014 end-page: 62 ident: 103. article-title: Maternal plasma RNA sequencing for genome-wide transcriptomic profiling and identification of pregnancy-associated transcripts publication-title: Clin. Chem. contributor: fullname: Wong, YF – volume: 111 start-page: 7361 year: 2014 end-page: 66 ident: 104. article-title: Noninvasive in vivo monitoring of tissue-specific global gene expression in humans publication-title: PNAS contributor: fullname: Gawad, C – volume: 102 start-page: 14753 year: 2005 end-page: 58 ident: 88. article-title: Detection of the placental epigenetic signature of the gene in maternal plasma publication-title: PNAS contributor: fullname: Chiu, RW – volume: 9 start-page: 465 year: 2008 end-page: 76 ident: 83. article-title: DNA methylation landscapes: provocative insights from epigenomics publication-title: Nat. Rev. Genet. contributor: fullname: Bird, A – volume: 33 start-page: 598 year: 2013 end-page: 601 ident: 51. article-title: Discordant results between fetal karyotyping and non-invasive prenatal testing by maternal plasma sequencing in a case of uniparental disomy 21 due to trisomic rescue publication-title: Prenat. Diagn. contributor: fullname: Li, FT – year: 2012 ident: 63. article-title: Microdeletion syndromes publication-title: eLS: Citable Reviews in the Life Sciences. contributor: fullname: Slavotinek, A – volume: 19 start-page: 697 year: 2013 end-page: 708 ident: 96. article-title: Widespread DNA hypomethylation at gene enhancer regions in placentas associated with early-onset pre-eclampsia publication-title: Mol. Hum. Reprod. contributor: fullname: Blair, JD – volume: 49 start-page: 727 year: 2003 end-page: 31 ident: 100. article-title: The concentration of circulating corticotropin-releasing hormone mRNA in maternal plasma is increased in preeclampsia publication-title: Clin. Chem. contributor: fullname: Ng, EK – volume: 76 start-page: 1453 year: 1979 end-page: 55 ident: 3. article-title: Fetal cells in the blood of pregnant women: detection and enrichment by fluorescence-activated cell sorting publication-title: PNAS contributor: fullname: Schröder, J – volume: 64 start-page: 218 year: 1999 end-page: 24 ident: 6. article-title: Rapid clearance of fetal DNA from maternal plasma publication-title: Am. J. Hum. Genet. contributor: fullname: Lo, YM – volume: 6 start-page: e22 year: 2008 ident: 86. article-title: A novel CpG island set identifies tissue-specific methylation at developmental gene loci publication-title: PLoS Biol. contributor: fullname: Kerr, A – volume: 46 start-page: 1832 year: 2000 end-page: 34 ident: 98. article-title: Presence of fetal RNA in maternal plasma publication-title: Clin. Chem. contributor: fullname: Lau, TK – volume: 13 start-page: 913 year: 2011 end-page: 20 ident: 30. article-title: DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study publication-title: Genet. Med. contributor: fullname: Palomaki, GE – volume: 33 start-page: 612 year: 2013 end-page: 13 ident: 47. article-title: Cell-free fetal DNA sex determination identified a maternal SRY gene with a known X chromosome deletion publication-title: Prenat. Diagn. contributor: fullname: Smith, K – volume: 487 start-page: 190 year: 2012 end-page: 95 ident: 81. article-title: Accurate whole-genome sequencing and haplotyping from 10 to 20 human cells publication-title: Nature contributor: fullname: Peters, BA – volume: 8 start-page: e60968 year: 2013 ident: 57. article-title: Noninvasive prenatal molecular karyotyping from maternal plasma publication-title: PLoS ONE contributor: fullname: Choy, KW – volume: 105 start-page: 16266 year: 2008 end-page: 71 ident: 19. article-title: Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood publication-title: PNAS contributor: fullname: Blumenfeld, YJ – volume: 54 start-page: 1664 year: 2008 end-page: 72 ident: 5. article-title: Microfluidics digital PCR reveals a higher than expected fraction of fetal DNA in maternal plasma publication-title: Clin. Chem. contributor: fullname: Chan, KC – volume: 57 start-page: 1042 year: 2011 end-page: 49 ident: 27. article-title: Optimal detection of fetal chromosomal abnormalities by massively parallel DNA sequencing of cell-free fetal DNA from maternal blood publication-title: Clin. Chem. contributor: fullname: Sehnert, AJ – volume: 58 start-page: 1467 year: 2012 end-page: 75 ident: 74. article-title: Noninvasive prenatal diagnosis of monogenic diseases by targeted massively parallel sequencing of maternal plasma: application to β-thalassemia publication-title: Clin. Chem. contributor: fullname: Jiang, P – volume: 33 start-page: 584 year: 2013 end-page: 90 ident: 59. article-title: A method for noninvasive detection of fetal large deletions duplications by low coverage massively parallel sequencing publication-title: Prenat. Diagn. contributor: fullname: Zhang, C – volume: 11 start-page: 818 year: 2009 end-page: 21 ident: 17. article-title: Screening for fetal aneuploidy and neural tube defects. Professional Practice Guidelines Committee publication-title: Genet. Med. contributor: fullname: Gross, SJ – volume: 111 start-page: 7361 year: 2014 end-page: 66 ident: 104. article-title: Noninvasive in vivo monitoring of tissue-specific global gene expression in humans publication-title: PNAS contributor: fullname: Pan, W – volume: 212 start-page: 332.e1 year: 2015 end-page: 9 ident: 62. article-title: Expanding the scope of noninvasive prenatal testing: detection of fetal microdeletion syndromes publication-title: Am. J. Obstet. Gynecol. contributor: fullname: Babiarz, JE – volume: 9 start-page: 465 year: 2008 end-page: 76 ident: 83. article-title: DNA methylation landscapes: provocative insights from epigenomics publication-title: Nat. Rev. Genet. contributor: fullname: Suzuki, MM – volume: 370 start-page: 799 year: 2014 end-page: 808 ident: 45. article-title: DNA sequencing versus standard prenatal aneuploidy screening publication-title: N. Engl. J. Med. contributor: fullname: Wentworth, J – volume: 7 start-page: e38154 year: 2012 ident: 21. article-title: Noninvasive prenatal diagnosis of fetal trisomy 21 by allelic ratio analysis using targeted massively parallel sequencing of maternal plasma DNA publication-title: PLoS ONE contributor: fullname: Jiang, P – volume: 45 start-page: 249 year: 2015 end-page: 66 ident: 35. article-title: Analysis of cell-free DNA in maternal blood in screening for fetal aneuploidies: updated meta-analysis publication-title: Ultrasound Obstet. Gynecol. contributor: fullname: Gil, MM – volume: 32 start-page: 1225 year: 2012 end-page: 32 ident: 44. article-title: Clinical application of massively parallel sequencing-based prenatal noninvasive fetal trisomy test for trisomies 21 and 18 in 11,105 pregnancies with mixed risk factors publication-title: Prenat. Diagn. contributor: fullname: Wang, W – volume: 57 start-page: 1042 year: 2011 end-page: 49 ident: 27. article-title: Optimal detection of fetal chromosomal abnormalities by massively parallel DNA sequencing of cell-free fetal DNA from maternal blood publication-title: Clin. Chem. contributor: fullname: Rhees, B – volume: 31 start-page: 519 year: 2011 end-page: 22 ident: 37. article-title: Aneuploidy screening: a position statement from a committee on behalf of the Board of the International Society for Prenatal Diagnosis, January 2011 publication-title: Prenat. Diagn. contributor: fullname: Benn, P – volume: 372 start-page: 1639 year: 2015 end-page: 45 ident: 49. article-title: Copy-number variation and false positive prenatal aneuploidy screening results publication-title: N. Engl. J. Med. contributor: fullname: Kitzman, JO – volume: 99 start-page: E1022 year: 2014 end-page: 30 ident: 75. article-title: Noninvasive prenatal diagnosis of congenital adrenal hyperplasia using cell-free fetal DNA in maternal plasma publication-title: J. Clin. Endocrinol. Metab. contributor: fullname: Tong, YK – volume: 487 start-page: 190 year: 2012 end-page: 95 ident: 81. article-title: Accurate whole-genome sequencing and haplotyping from 10 to 20 human cells publication-title: Nature contributor: fullname: Sparks, AB – volume: 52 start-page: 2194 year: 2006 end-page: 202 ident: 90. article-title: Noninvasive prenatal detection of fetal trisomy 18 by epigenetic allelic ratio analysis in maternal plasma: theoretical and empirical considerations publication-title: Clin. Chem. contributor: fullname: Ding, C – volume: 26 start-page: 28 year: 2005 end-page: 32 ident: 36. article-title: Placental volume measured by three-dimensional ultrasound at 11 to 13 + 6 weeks of gestation: relation to chromosomal defects publication-title: Ultrasound Obstet. Gynecol. contributor: fullname: Falcon, O – volume: 57 start-page: 92 year: 2011 end-page: 101 ident: 20. article-title: Targeted massively parallel sequencing of maternal plasma DNA permits efficient and unbiased detection of fetal alleles publication-title: Clin. Chem. contributor: fullname: Liao, GJ – volume: 46 start-page: 301 year: 2000 end-page: 2 ident: 66. article-title: Prenatal diagnosis of myotonic dystrophy using fetal DNA obtained from maternal plasma publication-title: Clin. Chem. contributor: fullname: Dallapiccola, B – volume: 29 start-page: 59 year: 2011 end-page: 63 ident: 80. article-title: Haplotype-resolved genome sequencing of a Gujarati Indian individual publication-title: Nat. Biotechnol. contributor: fullname: Kitzman, JO – volume: 35 start-page: 177 year: 2013 end-page: 83 ident: 41. article-title: Current status in non-invasive prenatal detection of Down syndrome, trisomy 18, and trisomy 13 using cell-free DNA in maternal plasma publication-title: J. Obstet. Gynaecol. Can. contributor: fullname: Brock, JA – volume: 29 start-page: 59 year: 2011 end-page: 63 ident: 80. article-title: Haplotype-resolved genome sequencing of a Gujarati Indian individual publication-title: Nat. Biotechnol. contributor: fullname: Mackenzie, AP – volume: 370 start-page: 799 year: 2014 end-page: 808 ident: 45. article-title: DNA sequencing versus standard prenatal aneuploidy screening publication-title: N. Engl. J. Med. contributor: fullname: Bianchi, DW – volume: 9 start-page: e107318 year: 2014 ident: 97. article-title: Comprehensive analysis of preeclampsia-associated DNA methylation in the placenta publication-title: PLoS ONE contributor: fullname: Chu, T – volume: 50 start-page: 88 year: 2004 end-page: 92 ident: 12. article-title: Size distributions of maternal and fetal DNA in maternal plasma publication-title: Clin. Chem. contributor: fullname: Chan, KC – volume: 372 start-page: 1589 year: 2015 end-page: 97 ident: 46. article-title: Cell-free DNA analysis for noninvasive examination of trisomy publication-title: N. Engl. J. Med. contributor: fullname: Swamy, GK – volume: 62 start-page: 768 year: 1998 end-page: 75 ident: 4. article-title: Quantitative analysis of fetal DNA in maternal plasma and serum: implications for noninvasive prenatal diagnosis publication-title: Am. J. Hum. Genet. contributor: fullname: Tein, MS – volume: 33 start-page: 675 year: 2013 end-page: 81 ident: 53. article-title: Noninvasive twin zygosity assessment and aneuploidy detection by maternal plasma DNA sequencing publication-title: Prenat. Diagn. contributor: fullname: Leung, TY – volume: 52 start-page: 2211 year: 2006 end-page: 18 ident: 89. article-title: Hypermethylated in maternal plasma: a universal fetal DNA marker that improves the reliability of noninvasive prenatal diagnosis publication-title: Clin. Chem. contributor: fullname: Gerovassili, A – volume: 13 start-page: 218 year: 2007 end-page: 23 ident: 101. article-title: Plasma placental RNA allelic ratio permits noninvasive prenatal chromosomal aneuploidy detection publication-title: Nat. Med. contributor: fullname: Tsui, NB – volume: 23 start-page: 1042 year: 2003 end-page: 44 ident: 9. article-title: Earliest gestational age for fetal sexing in cell-free maternal plasma publication-title: Prenat. Diagn. contributor: fullname: Peters, ED – volume: 59 start-page: 1583 year: 2013 end-page: 94 ident: 11. article-title: Noninvasive prenatal methylomic analysis by genomewide bisulfite sequencing of maternal plasma DNA publication-title: Clin. Chem. contributor: fullname: Sun, K – volume: 207 start-page: 374.e1 year: 2012 end-page: 6 ident: 43. article-title: Noninvasive prenatal testing for fetal trisomies in a routinely screened first-trimester population publication-title: Am. J. Obstet. Gynecol. contributor: fullname: Nicolaides, KH – volume: 33 start-page: 584 year: 2013 end-page: 90 ident: 59. article-title: A method for noninvasive detection of fetal large deletions duplications by low coverage massively parallel sequencing publication-title: Prenat. Diagn. contributor: fullname: Lau, TK – volume: 14 start-page: 296 year: 2012 end-page: 305 ident: 28. article-title: DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study publication-title: Genet. Med. contributor: fullname: Kloza, EM – volume: 33 start-page: 547 year: 2013 end-page: 54 ident: 82. article-title: Noninvasive fetal genome sequencing: a primer publication-title: Prenat. Diagn. contributor: fullname: Kitzman, JO – volume: 372 start-page: 1639 year: 2015 end-page: 45 ident: 49. article-title: Copy-number variation and false positive prenatal aneuploidy screening results publication-title: N. Engl. J. Med. contributor: fullname: Snyder, MW – volume: 27 start-page: 415 year: 2007 end-page: 18 ident: 8. article-title: Free fetal DNA in maternal plasma in anembryonic pregnancies: confirmation that the origin is the trophoblast publication-title: Prenat. Diagn. contributor: fullname: Alberry, M – volume: 15 start-page: 121 year: 2014 end-page: 32 ident: 16. article-title: Sequencing depth and coverage: key considerations in genomic analyses publication-title: Nat. Rev. Genet. contributor: fullname: Sudbery, I – volume: 33 start-page: 584 year: 2013 end-page: 90 ident: 59. article-title: A method for noninvasive detection of fetal large deletions duplications by low coverage massively parallel sequencing publication-title: Prenat. Diagn. contributor: fullname: Chen, S – volume: 60 start-page: 251 year: 2014 end-page: 59 ident: 50. article-title: Maternal mosaicism is a significant contributor to discordant sex chromosomal aneuploidies associated with noninvasive prenatal testing publication-title: Clin. Chem. contributor: fullname: Chen, Y – volume: 18 start-page: 1518 year: 2008 end-page: 29 ident: 87. article-title: An integrated resource for genome-wide identification and analysis of human tissue-specific differentially methylated regions (tDMRs) publication-title: Genome Res. contributor: fullname: Thorne, NP – volume: 204 start-page: 205.e1 year: 2011 end-page: 11 ident: 29. article-title: Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: a study in a clinical setting publication-title: Am. J. Obstet. Gynecol. contributor: fullname: Zwiefelhofer, T – volume: 48 start-page: 421 year: 2002 end-page: 27 ident: 10. article-title: Predominant hematopoietic origin of cell-free DNA in plasma and serum after sex-mismatched bone marrow transplantation publication-title: Clin. Chem. contributor: fullname: Lui, YY – volume: 59 start-page: 427 year: 2013 end-page: 35 ident: 54. article-title: Noninvasive prenatal determination of twin zygosity by maternal plasma DNA analysis publication-title: Clin. Chem. contributor: fullname: Qu, JZ – volume: 5 start-page: 18 year: 2013 ident: 78. article-title: Haplotype-assisted accurate non-invasive fetal whole genome recovery through maternal plasma sequencing publication-title: Genome Med. contributor: fullname: Wang, X – volume: 120 start-page: 1532 year: 2012 end-page: 4 ident: 38. article-title: Committee Opinion No. 545: noninvasive prenatal testing for fetal aneuploidy publication-title: Obstet. Gynecol. – volume: 487 start-page: 320 year: 2012 end-page: 24 ident: 76. article-title: Non-invasive prenatal measurement of the fetal genome publication-title: Nature contributor: fullname: Fan, HC – volume: 342 start-page: c7401 year: 2011 ident: 26. article-title: Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study publication-title: BMJ contributor: fullname: Akolekar, R – volume: 342 start-page: c7401 year: 2011 ident: 26. article-title: Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study publication-title: BMJ contributor: fullname: Zheng, YW – volume: 59 start-page: 427 year: 2013 end-page: 35 ident: 54. article-title: Noninvasive prenatal determination of twin zygosity by maternal plasma DNA analysis publication-title: Clin. Chem. contributor: fullname: Leung, TY – volume: 17 start-page: 510 year: 2011 end-page: 13 ident: 94. article-title: Fetal-specific DNA methylation ratio permits noninvasive prenatal diagnosis of trisomy 21 publication-title: Nat. Med. contributor: fullname: Karagrigoriou, A – volume: 7 start-page: e38154 year: 2012 ident: 21. article-title: Noninvasive prenatal diagnosis of fetal trisomy 21 by allelic ratio analysis using targeted massively parallel sequencing of maternal plasma DNA publication-title: PLoS ONE contributor: fullname: Chan, KC – volume: 207 start-page: 137.e1 year: 2012 end-page: 8 ident: 32. article-title: Non-Invasive Chromosomal Evaluation (NICE) Study: results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18 publication-title: Am. J. Obstet. Gynecol. contributor: fullname: Brar, H – volume: 60 start-page: 251 year: 2014 end-page: 59 ident: 50. article-title: Maternal mosaicism is a significant contributor to discordant sex chromosomal aneuploidies associated with noninvasive prenatal testing publication-title: Clin. Chem. contributor: fullname: Wang, Y – volume: 339 start-page: 1734 year: 1998 end-page: 38 ident: 64. article-title: Prenatal diagnosis of fetal RhD status by molecular analysis of maternal plasma publication-title: N. Engl. J. Med. contributor: fullname: Hjelm, NM – volume: 27 start-page: 593 year: 2013 end-page: 98 ident: 14. article-title: Non-invasive prenatal testing using massively parallel sequencing of maternal plasma DNA: from molecular karyotyping to fetal whole-genome sequencing publication-title: Reprod. Biomed. Online contributor: fullname: Lo, YM – volume: 41 start-page: 289 year: 2004 end-page: 92 ident: 7. article-title: Detection of cell free placental DNA in maternal plasma: direct evidence from three cases of confined placental mosaicism publication-title: J. Med. Genet. contributor: fullname: Yoshiura, KI – volume: 22 start-page: 291 year: 2013 end-page: 95 ident: 39. article-title: Noninvasive prenatal testing noninvasive prenatal diagnosis: the position of the National Society of Genetic Counselors publication-title: J. Genet. Couns. contributor: fullname: Devers, PL – volume: 23 start-page: 1042 year: 2003 end-page: 44 ident: 9. article-title: Earliest gestational age for fetal sexing in cell-free maternal plasma publication-title: Prenat. Diagn. contributor: fullname: Rijnders, RJ – volume: 32 start-page: S17 issue: Suppl. year: 2011 end-page: 20 ident: 105. article-title: Cell-free nucleic acids as potential markers for preeclampsia publication-title: Placenta contributor: fullname: Hösli, I – volume: 8 start-page: e60968 year: 2013 ident: 57. article-title: Noninvasive prenatal molecular karyotyping from maternal plasma publication-title: PLoS ONE contributor: fullname: Yu, SC – volume: 339 start-page: 1734 year: 1998 end-page: 38 ident: 64. article-title: Prenatal diagnosis of fetal RhD status by molecular analysis of maternal plasma publication-title: N. Engl. J. Med. contributor: fullname: Lo, YM – volume: 61 start-page: 608 year: 2015 end-page: 16 ident: 61. article-title: Detection of fetal subchromosomal abnormalities by sequencing circulating cell-free DNA from maternal plasma publication-title: Clin. Chem. contributor: fullname: Tynan, J – ident: B53 doi: 10.1002/pd.4132 – ident: B96 doi: 10.1093/molehr/gat044 – ident: B106 doi: 10.1016/j.clinbiochem.2015.03.004 – ident: B80 doi: 10.1038/nbt.1740 – ident: B13 doi: 10.1126/scitranslmed.3001720 – ident: B31 doi: 10.1097/AOG.0b013e31824fb482 – ident: B28 doi: 10.1038/gim.2011.73 – volume: 48 start-page: 421 year: 2002 ident: B10 publication-title: Clin. Chem. doi: 10.1093/clinchem/48.3.421 contributor: fullname: Lui YY – ident: B81 doi: 10.1038/nature11236 – ident: B77 doi: 10.1126/scitranslmed.3004323 – ident: B33 doi: 10.1002/pd.4103 – ident: B14 doi: 10.1016/j.rbmo.2013.08.008 – ident: B56 doi: 10.1373/clinchem.2011.180794 – ident: B45 doi: 10.1056/NEJMoa1311037 – ident: B24 doi: 10.1002/pd.2922 – ident: B63 doi: 10.1002/9780470015902.a0005549.pub2 – ident: B12 doi: 10.1373/clinchem.2003.024893 – ident: B78 doi: 10.1186/gm422 – ident: B85 doi: 10.1038/ng1990 – ident: B16 doi: 10.1038/nrg3642 – ident: B99 doi: 10.1002/pd.2230 – ident: B39 doi: 10.1007/s10897-012-9564-0 – ident: B71 doi: 10.1073/pnas.0810373105 – ident: B59 doi: 10.1002/pd.4110 – ident: B73 doi: 10.1182/blood-2010-10-310789 – ident: B55 doi: 10.1056/NEJMc1106975 – ident: B61 doi: 10.1373/clinchem.2014.233312 – ident: B6 doi: 10.1086/302205 – ident: B72 doi: 10.1373/clinchem.2011.178939 – ident: B48 doi: 10.1002/pd.4076 – ident: B18 doi: 10.1073/pnas.0810641105 – ident: B30 doi: 10.1097/GIM.0b013e3182368a0e – volume: 46 start-page: 301 year: 2000 ident: B66 publication-title: Clin. Chem. doi: 10.1093/clinchem/46.2.301 contributor: fullname: Amicucci P – ident: B40 doi: 10.1038/gim.2013.29 – ident: B64 doi: 10.1056/NEJM199812103392402 – ident: B34 doi: 10.1159/000358326 – ident: B43 doi: 10.1016/j.ajog.2012.08.033 – ident: B79 doi: 10.1038/nbt.1739 – ident: B93 doi: 10.1371/journal.pone.0015069 – ident: B23 doi: 10.1016/j.ajog.2012.01.030 – ident: B101 doi: 10.1038/nm1530 – ident: B19 doi: 10.1073/pnas.0808319105 – ident: B68 doi: 10.1002/uog.8893 – ident: B49 doi: 10.1056/NEJMoa1408408 – ident: B91 doi: 10.1371/journal.pone.0015244 – ident: B46 doi: 10.1056/NEJMoa1407349 – ident: B35 doi: 10.1002/uog.14791 – ident: B82 doi: 10.1002/pd.4097 – ident: B60 doi: 10.1093/nar/gkt992 – ident: B38 doi: 10.1097/01.AOG.0000423819.85283.f4 – ident: B17 doi: 10.1097/GIM.0b013e3181bb267b – ident: B25 doi: 10.1159/000367626 – ident: B86 doi: 10.1371/journal.pbio.0060022 – ident: B62 doi: 10.1016/j.ajog.2014.11.041 – ident: B67 doi: 10.1002/pd.2385 – ident: B5 doi: 10.1373/clinchem.2008.111385 – ident: B7 doi: 10.1136/jmg.2003.015784 – ident: B2 doi: 10.1097/01.AOG.0000278820.54029.e3 – ident: B32 doi: 10.1016/j.ajog.2012.05.021 – volume: 51 start-page: 197 year: 2013 ident: B15 publication-title: Clin. Chem. Lab. Med. doi: 10.1515/cclm-2012-0601 contributor: fullname: Chiu RW – ident: B74 doi: 10.1373/clinchem.2012.189589 – ident: B26 doi: 10.1136/bmj.c7401 – ident: B44 doi: 10.1002/pd.4002 – ident: B58 doi: 10.1016/j.ajhg.2012.12.006 – ident: B8 doi: 10.1002/pd.1700 – ident: B42 doi: 10.1371/journal.pone.0088484 – ident: B52 doi: 10.1002/pd.3892 – ident: B51 doi: 10.1002/pd.4069 – volume: 46 start-page: 1832 year: 2000 ident: B98 publication-title: Clin. Chem. doi: 10.1093/clinchem/46.11.1832 contributor: fullname: Poon LL – ident: B92 doi: 10.1373/clinchem.2009.134114 – ident: B90 doi: 10.1373/clinchem.2006.076851 – ident: B9 doi: 10.1002/pd.750 – ident: B29 doi: 10.1016/j.ajog.2010.12.060 – ident: B11 doi: 10.1373/clinchem.2013.212274 – ident: B22 doi: 10.1002/pd.3993 – ident: B76 doi: 10.1038/nature11251 – ident: B54 doi: 10.1373/clinchem.2012.194068 – ident: B4 doi: 10.1086/301800 – ident: B83 doi: 10.1038/nrg2341 – ident: B87 doi: 10.1101/gr.077479.108 – ident: B100 doi: 10.1373/49.5.727 – ident: B21 doi: 10.1371/journal.pone.0038154 – ident: B47 doi: 10.1002/pd.4078 – ident: B1 doi: 10.1016/S0140-6736(97)02174-0 – ident: B37 doi: 10.1002/pd.2730 – ident: B65 doi: 10.1002/pd.570 – ident: B105 doi: 10.1016/j.placenta.2010.06.018 – ident: B50 doi: 10.1373/clinchem.2013.215145 – ident: B75 doi: 10.1210/jc.2014-1118 – ident: B94 doi: 10.1038/nm.2312 – ident: B102 doi: 10.1002/pd.2340 – ident: B88 doi: 10.1073/pnas.0503335102 – ident: B97 doi: 10.1371/journal.pone.0107318 – ident: B27 doi: 10.1373/clinchem.2011.165910 – ident: B95 doi: 10.1038/ejhg.2010.63 – ident: B104 doi: 10.1073/pnas.1405528111 – ident: B89 doi: 10.1373/clinchem.2006.074997 – ident: B20 doi: 10.1373/clinchem.2010.154336 – ident: B69 doi: 10.1002/pd.4066 – ident: B84 doi: 10.1038/ng1909 – ident: B70 doi: 10.1002/pd.4583 – ident: B36 doi: 10.1002/uog.1923 – ident: B3 doi: 10.1073/pnas.76.3.1453 – ident: B57 doi: 10.1371/journal.pone.0060968 – ident: B103 doi: 10.1373/clinchem.2014.221648 – ident: B41 doi: 10.1016/S1701-2163(15)31025-2 |
| SSID | ssj0009338 |
| Score | 2.5128577 |
| SecondaryResourceType | review_article |
| Snippet | Noninvasive prenatal testing (NIPT) is accomplished by analysis of circulating cell-free fetal nucleic acids in maternal plasma. The advent of massively... |
| SourceID | proquest crossref pubmed annualreviews |
| SourceType | Aggregation Database Index Database Publisher |
| StartPage | 419 |
| SubjectTerms | Aneuploidy cell-free DNA Chromosomes DNA - blood DNA Methylation DNA Mutational Analysis Fetal Diseases - diagnosis Fetal Diseases - genetics Genetic disorders Genetic Testing - methods Genome, Human Genomes High-Throughput Nucleotide Sequencing Humans Innovations Maternal & child health Medical diagnosis methylome next-generation sequencing noninvasive prenatal testing Plasma Polymorphism, Single Nucleotide Prenatal development Prenatal Diagnosis - methods Transcriptome |
| Title | Prenatal Diagnosis Innovation: Genome Sequencing of Maternal Plasma |
| URI | http://dx.doi.org/10.1146/annurev-med-091014-115715 https://www.ncbi.nlm.nih.gov/pubmed/26473414 https://www.proquest.com/docview/1768905456 https://search.proquest.com/docview/1760887758 |
| Volume | 67 |
| hasFullText | 1 |
| inHoldings | 1 |
| isFullTextHit | |
| isPrint | |
| link | http://sdu.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwnV1LT8MwDLbGDhMX3o_CQJnENVIfadNxQ3tyGJo0kHar0jSROKyd9uD34yzd2AQIsXPbNLHjfJ_jxAZ4kFkcRinnVIYZOijIiCnyZHNMTCkVKtZMU3N3uD_iL-O43TFpcoKfI_hb5VgoggM14OYxahLEmIvlFW6KNXTHva80u0Fg194oogyNsQaNP9v5nv9zG6F-oZ0r-Oke79XxEzgq2SZ5stPjFCoqP4PaoIynn0NrOFO52cAhbXvk7n1Onjd1Uh9JT-XFRJGRPW-NKEcKTQbCJo4mQ2TeE3EBb93Oa6tPy7IKVLDQW1AmPDdIpfI4uioxF4Eba44d5GEWplJqjR6zKZEeebFkkStdodNMMCU9tFjJ_eASqnmRq2sgQmZIWJDz6KZmwldmlJEUYYarho_Y5wDfEW0ytSk0kt3r0B8JyiixMkqsjBzw10r4z0f1tbqS0hTniYcOVdM1RNGBxuYxGpGJjIhcFcvVO2a1Rd_JgSur5s1fkTFyhHp2s_dYbuEQaVa5cVOH6mK2VHdwMM-W96vZ-wlvNeoe |
| link.rule.ids | 70,315,782,786,4186,27933,27934,78264,78265 |
| linkProvider | Annual Reviews |
| linkToHtml | http://sdu.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwrV1ZT8MwDLZgSIMX7mMwIJN4jeiRNh1vaLfYpkkb0t6qNE0lHtahHfx-nKUdTAghEM894zj258T-DHAn48DzI86p9GIMUBARU8TJOk1MKeUpVo0iXTvcHvL-OKg3NE3OIK-F0WmVG2ycq9N8nbaNNvg-k-88J7nNe7VQ9BxUez6bUc0eo6vOd9D3-ZpNvzlufdDwuq6xzb5PGS7WIlR-fNVXftDPHuwbWLpyT82D_x_YIexnUJU8Gt06gi2VHkOxlx3Gn0BtMFOp3v0hdZOv9zInnXWT1QfSUul0osjQJGujiyTThPSEYZ0mA4TtE3EKz83GqNamWU8GKphnLygTtuVGUtkc45yAC9cKEo4_yL3Yi6RMEgy3dX913w4k8y1piSSKBVPSxuUuueOeQSGdpuoCiJAxoh0ETEk1YcJRepS-FF6MJsdBx1kCviGw8NXwb4SbtdRvIcooNDIKjYxK4OQz9JuHyvlchvl0hDZGY1VLo8wSVNaXcQXqYxWRqulydY821Rh4leDc6MD6q6iBHHECu_zzWG5htz3qdcNup_90BXuI17IdoDIUFrOluobteby8Wan5O5OrBg4 |
| linkToPdf | http://sdu.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwxV3rS8MwED98wPCL78d8ZiB-C7Zr2nR-EXHugW4MprBvJU1TGLhu7OW_76Vpp0NE9IufmxJyudz9Lnf5HcCljHzXCzmn0o0wQEFETBEn6zIxpZSrWCUM9dvhRpe3e371QdPkzPO3MLqscomNM83m67JttMHXmXwnOclt3quFoueg2vPZjGr2GNu9lWPx9orKMB3P1NWgP1ApCdGnrPD1KIpXYR09pKdLAWu9-gdZr-MYC-55lOGRLkDpxwm_soh-9nPfgNfUidW2_mv527CZwV5yZ_R0B1ZUsguFVpbY34P7zlgl-iaJVE3tX39CmouGrTekrpLhQJGuKfxGd0uGMWkJw2BNOhgCDMQ-vNQenu8bNOvvQAVz7SllwracUCqbY8zkc-FYfsxxGdyN3FDKOMbQXfdq92xfMs-SlojDSDAlbTQdkpedA1hLhok6AiJkhMgJwVdciZkoKy0LTwo3QvNVRidcBL4k1mBkuDyC5XfZ8wAlGRhJBkaSRSjn-_ibn07zHQ_yTQtsjOwqlkasRSgtPuNp1ikakajhLB2jzT4GcUU4NJqymBWhK0fMwY7_vJYLKHSqteCp2X48gQ2Eftll0imsaT05g9VJNDtPz8I7KmAj6w |
| openUrl | ctx_ver=Z39.88-2004&ctx_enc=info%3Aofi%2Fenc%3AUTF-8&rfr_id=info%3Asid%2Fsummon.serialssolutions.com&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.atitle=Prenatal+Diagnosis+Innovation%3A+Genome+Sequencing+of+Maternal+Plasma&rft.jtitle=Annual+review+of+medicine&rft.au=Wong%2C+Felix+CK&rft.au=Lo%2C+YM+Dennis&rft.date=2016-01-01&rft.pub=Annual+Reviews%2C+Inc&rft.issn=0066-4219&rft.eissn=1545-326X&rft.volume=67&rft.spage=419&rft_id=info:doi/10.1146%2Fannurev-med-091014-115715&rft.externalDBID=HAS_PDF_LINK&rft.externalDocID=3967386751 |
| thumbnail_l | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/lc.gif&issn=0066-4219&client=summon |
| thumbnail_m | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/mc.gif&issn=0066-4219&client=summon |
| thumbnail_s | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/sc.gif&issn=0066-4219&client=summon |