Search Results - "Faas, Brigitte H. W."

Benefits and limitations of whole genome versus targeted approaches for noninvasive prenatal testing for fetal aneuploidies by Boon, Elles M. J., Faas, Brigitte H. W.

“…ABSTRACT The goal to noninvasively detect fetal aneuploidies using circulating cell‐free fetal DNA in the maternal plasma seems to be achieved by the use of…”
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Maternal Malignancies Detected With Noninvasive Prenatal Testing by Sistermans, Erik, Straver, Roy, Faas, Brigitte H. W

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Women’s Experience with Non-Invasive Prenatal Testing and Emotional Well-being and Satisfaction after Test-Results by van Schendel, Rachèl V., Page-Christiaens, G. C. M. Lieve, Beulen, Lean, Bilardo, Caterina M., de Boer, Marjon A., Coumans, Audrey B. C., Faas, Brigitte H. W., van Langen, Irene M., Lichtenbelt, Klaske D., van Maarle, Merel C., Macville, Merryn V. E., Oepkes, Dick, Pajkrt, Eva, Henneman, Lidewij

“…Increasingly, high-risk pregnant women opt for non-invasive prenatal testing (NIPT) instead of invasive diagnostic testing. Since NIPT is less accurate than…”
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Non-invasive prenatal diagnosis of fetal aneuploidies using massively parallel sequencing-by-ligation and evidence that cell-free fetal DNA in the maternal plasma originates from cytotrophoblastic cells by Faas, Brigitte H W, de Ligt, Joep, Janssen, Irene, Eggink, Alex J, Wijnberger, Lia D E, van Vugt, John M G, Vissers, Lisenka, Geurts van Kessel, Ad

“…Blood plasma of pregnant women contains circulating cell-free fetal DNA (ccffDNA), originating from the placenta. The use of this DNA for non-invasive…”
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Prenatal genetic care: debates and considerations of the past, present and future by Faas, Brigitte H W

“…After karyotyping invasively obtained fetal material for decades, the field of prenatal genetic care has changed tremendously since the turn of the century…”
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Combined Count- and Size-Based Analysis of Maternal Plasma DNA for Noninvasive Prenatal Detection of Fetal Subchromosomal Aberrations Facilitates Elucidation of the Fetal and/or Maternal Origin of the Aberrations by Yu, Stephanie C Y, Jiang, Peiyong, Chan, K C Allen, Faas, Brigitte H W, Choy, Kwong W, Leung, Wing C, Leung, Tak Y, Lo, Y M Dennis, Chiu, Rossa W K

“…Noninvasive prenatal detection of fetal subchromosomal copy number aberrations (CNAs) can be achieved through massively parallel sequencing of maternal plasma…”
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Detection of DNA Contamination in Prenatal Samples from Whole Exome Sequencing Data by Smeekens, Sanne P, Timmermans, Raoul, Westra, Dineke, Gilissen, Christian, Faas, Brigitte H W

“…Maternal cell contamination (MCC) in prenatal samples poses a risk for misdiagnosis, and therefore, testing for contamination is necessary during genetic…”
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Cell-Free RNA Is a Reliable Fetoplacental Marker in Noninvasive Fetal Sex Determination by Mersy, Elke, Faas, Brigitte H W, Spierts, Sabine, Houben, Leonie M H, Macville, Merryn V E, Frints, Suzanna G M, Paulussen, Aimee D C, Veltman, Joris A

“…Noninvasive genetic tests that use cell-free fetal DNA (cffDNA) are used increasingly in prenatal care. A low amount of cffDNA can have detrimental effects on…”
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Current controversies in prenatal diagnosis 1: NIPT for chromosome abnormalities should be offered to women with low a priori risk by Van Lith, Jan M. M., Faas, Brigitte H. W., Bianchi, Diana W.

“…In its successful annual cycle of controversies and debates, the International Society of Prenatal Diagnosis and Therapy once again addressed non‐invasive…”
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Non-targeted whole genome 250K SNP array analysis as replacement for karyotyping in fetuses with structural ultrasound anomalies: evaluation of a one-year experience by Faas, Brigitte HW, Feenstra, Ilse, Eggink, Alex J., Kooper, Angelique JA, Pfundt, Rolph, van Vugt, John MG, de Leeuw, Nicole

“…ABSTRACT Objective We evaluated both clinical and laboratory aspects of our new strategy offering quantitative fluorescence (QF)‐PCR followed by non‐targeted…”
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Clinical and cytogenetic characterization of 13 Dutch patients with deletion 9p syndrome: Delineation of the critical region for a consensus phenotype by Swinkels, Mariëlle E.M., Simons, Annet, Smeets, Dominique F., Vissers, Lisenka E., Veltman, Joris A., Pfundt, Rolph, de Vries, Bert B.A., Faas, Brigitte H.W., Schrander-Stumpel, Connie T.R.M., McCann, Emma, Sweeney, Elizabeth, May, Paul, Draaisma, Jos M., Knoers, Nine V., van Kessel, Ad Geurts, van Ravenswaaij-Arts, Conny M.A.

“…The deletion 9p syndrome is caused by a constitutional monosomy of part of the short arm of chromosome 9. It is clinically characterized by dysmorphic facial…”
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Validation of two-channel sequencing-by-synthesis for noninvasive prenatal testing of fetal whole and partial chromosome aberrations by Neveling, Kornelia, Tjwan Thung, Djie, Beulen, Lean, van Rens-Buijsman, Wendy, Gomes, Ingrid, van den Heuvel, Simone, Mieloo, Hanneke, Derks-Prinsen, Irma, Kater-Baats, Ellen, Faas, Brigitte H. W.

“…Objective To validate Illumina's two‐channel NextSeq 500 sequencing system for noninvasive prenatal testing (NIPT) of fetal whole chromosome and partial…”
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Summary of the ISPD Preconference Day, June 3, 2012, Miami Beach by Faas, Brigitte H. W., Odibo, Anthony O., Cirigliano, V., Schielen, P., Pergament, D., Devers, P., Oepkes, D., Benn, P.

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Origin and clinical relevance of chromosomal aberrations other than the common trisomies detected by genome-wide NIPS: results of the TRIDENT study by Van Opstal, Diane, van Maarle, Merel C, Lichtenbelt, Klaske, Weiss, Marjan M, Schuring-Blom, Heleen, Bhola, Shama L, Hoffer, Mariette J V, Huijsdens-van Amsterdam, Karin, Macville, Merryn V, Kooper, Angelique J A, Faas, Brigitte H W, Govaerts, Lutgarde, Tan-Sindhunata, Gita M, den Hollander, Nicolette, Feenstra, Ilse, Galjaard, Robert-Jan H, Oepkes, Dick, Ghesquiere, Stijn, Brouwer, Rutger W W, Beulen, Lean, Bollen, Sander, Elferink, Martin G, Straver, Roy, Henneman, Lidewij, Page-Christiaens, Godelieve C, Sistermans, Erik A

“…Purpose Noninvasive prenatal screening (NIPS) using cell-free DNA in maternal blood is highly sensitive for detecting fetal trisomies 21, 18, and 13. Using a…”
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Noninvasive Prenatal Test Results Indicative of Maternal Malignancies: A Nationwide Genetic and Clinical Follow-Up Study by Heesterbeek, Catharina J, Aukema, Sietse M, Galjaard, Robert-Jan H, Boon, Elles M J, Srebniak, Malgorzata I, Bouman, Katelijne, Faas, Brigitte H W, Govaerts, Lutgarde C P, Hoffer, Mariëtte J V, den Hollander, Nicolette S, Lichtenbelt, Klaske D, van Maarle, Merel C, van Prooyen Schuurman, Lisanne, van Rij, Maartje C, Schuring-Blom, G Heleen, Stevens, Servi J C, Tan-Sindhunata, Gita, Zamani Esteki, Masoud, de Die-Smulders, Christine E M, Tjan-Heijnen, Vivianne C G, Henneman, Lidewij, Sistermans, Erik A, Macville, Merryn V E

“…Noninvasive prenatal testing (NIPT) for fetal aneuploidy screening using cell-free DNA derived from maternal plasma can incidentally raise suspicion for…”
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Multiplex Ligation-dependent Probe Amplification (MLPA) as a stand-alone test for rapid aneuploidy detection in amniotic fluid cells by Kooper, Angelique J. A., Faas, Brigitte H. W., Kater-Baats, Ellen, Feuth, Ton, Janssen, Jasper C. J. A., van der Burgt, Ineke, Lotgering, Fred K., Geurts van Kessel, Ad, Smits, Arie P. T.

“…Objective This study aimed to determine the diagnostic application of multiplex ligation‐dependent probe amplification (MLPA) as a stand‐alone test for…”
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Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings by Croonen, Ellen A, Nillesen, Willy M, Stuurman, Kyra E, Oudesluijs, Gretel, van de Laar, Ingrid M B M, Martens, Liesbeth, Ockeloen, Charlotte, Mathijssen, Inge B, Schepens, Marga, Ruiterkamp-Versteeg, Martina, Scheffer, Hans, Faas, Brigitte H W, van der Burgt, Ineke, Yntema, Helger G

“…In recent studies on prenatal testing for Noonan syndrome (NS) in fetuses with an increased nuchal translucency (NT) and a normal karyotype, mutations have…”
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Fetal anomaly scan potentially will replace routine AFAFP assays for the detection of neural tube defects by Kooper, Angelique J. A., de Bruijn, Dagmar, van Ravenwaaij-Arts, Conny M. A., Faas, Brigitte H. W., Creemers, Johan W. T., Thomas, Chris M. G., Smits, Arie P. T.

“…Objectives Introduction of the second‐trimester fetal anomaly scan and the decision to offer this scan to every woman in the 18th–22nd week of pregnancy…”
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All‐in‐one whole exome sequencing strategy with simultaneous copy number variant, single nucleotide variant and absence‐of‐heterozygosity analysis in fetuses with structural ultrasound anomalies: A 1‐year experience by Faas, Brigitte H. W., Westra, Dineke, Munnik, Sonja A., Rij, Maartje, Marcelis, Carlo, Joosten, Sara, Krapels, Ingrid, Vernimmen, Vivian, Heijligers, Malou, Willemsen, Marjolein H., Leeuw, Nicole, Rinne, Tuula, Pfundt, Rolph, Smeekens, Sanne P., Stegmann, Sander P. A., Macville, Merryn, Sikkel, Esther, Coumans, Audrey, Wijnberger, Lia, Derks, Irma, Lent‐Albrechts, Josefa, Hofste, Tom, Timmermans, Raoul, End, Janneke, Stevens, Servi J. C., Feenstra, Ilse

“…Objective We performed a 1‐year evaluation of a novel strategy of simultaneously analyzing single nucleotide variants (SNVs), copy number variants (CNVs) and…”
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Women's and healthcare professionals' preferences for prenatal testing: a discrete choice experiment by Beulen, Lean, Grutters, Janneke P. C., Faas, Brigitte H. W., Feenstra, Ilse, Groenewoud, Hans, van Vugt, John M. G., Bekker, Mireille N.

“…Objective This study evaluates pregnant women's and healthcare professionals' preferences regarding specific prenatal screening and diagnostic test…”
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