Search Results - "Knapen, M. F. C M"

Frequency of submicroscopic chromosomal aberrations in pregnancies without increased risk for structural chromosomal aberrations: systematic review and meta‐analysis by Srebniak, M. I., Joosten, M., Knapen, M. F. C. M., Arends, L. R., Polak, M., van Veen, S., Go, A. T. J. I., Van Opstal, D.

“…ABSTRACT Objective To establish, based on a systematic literature review, the frequency of pathogenic submicroscopic chromosomal aberrations in fetuses that…”
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Suppression of Hb Bart's to improve tissue oxygenation and fetal development in homozygous alpha‐thalassemia by Lugthart, G., Verweij, E. J. T., Harteveld, C. L., Tan, R. N. G. B., Knapen, M. F. C. M., Slaghekke, F., Haak, M. C., Mohseny, A. B., Smiers, F. J.

“…Intra‐uterine reduction of Hb Bart's only reached with exchange transfusions…”
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Prenatal and postnatal findings in small‐for‐gestational‐age fetuses without structural ultrasound anomalies at 18–24 weeks by de Wit, M. C., Srebniak, M. I., Joosten, M., Govaerts, L. C. P., Kornelisse, R. F., Papatsonis, D. N. M., de Graaff, K., Knapen, M. F. C. M., Bruggenwirth, H. T., de Vries, F. A. T., Van Veen, S., Van Opstal, D., Galjaard, R. J. H., Go, A. T. J. I.

“…ABSTRACT Objective To assess phenotypic and genotypic characteristics of small‐for‐gestational‐age (SGA) fetuses without structural anomalies at 18–24 weeks'…”
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Choosing between Higher and Lower Resolution Microarrays: do Pregnant Women Have Sufficient Knowledge to Make Informed Choices Consistent with their Attitude? by van der Steen, S. L., Bunnik, E. M., Polak, M. G., Diderich, K. E. M., Verhagen-Visser, J., Govaerts, L. C. P., Joosten, M., Knapen, M. F. C. M., Go, A. T. J. I., Van Opstal, D., Srebniak, M. I., Galjaard, R. J. H., Tibben, A., Riedijk, S. R.

“…Developments in prenatal testing allow the detection of more findings. SNP arrays in prenatal diagnosis (PND) can be analyzed at 0.5 Mb resolution detecting…”
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ENDOCRINOLOGY IN PREGNANCY: Pheochromocytoma in pregnancy: case series and review of literature by van der Weerd, K, van Noord, C, Loeve, M, Knapen, M F C M, Visser, W, de Herder, W W, Franssen, G, van der Marel, C D, Feelders, R A

“…Pheochromocytoma in pregnancy is extremely rare. Early recognition is crucial as antepartum diagnosis can largely decrease maternal and fetal mortality rates…”
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What proportion of couples with a history of recurrent pregnancy loss and with a balanced rearrangement in one parent can potentially be identified through cell-free DNA genotyping? by van Zutven, Laura J. C. M, Mijalkovic, Jona, van Veghel-Plandsoen, Monique, Goense, Margaret, Polak, Marike, Knapen, Maarten F. C. M, de Weerd, Sabina, Joosten, Marieke, Diderich, Karin E. M, Hoefsloot, Lies H, Van Opstal, Diane, Srebniak, Malgorzata I

“…Abstract Background Balanced chromosome aberrations are reported in about 1:30 couples with recurrent pregnancy loss (RPL). Karyotyping of both parents is…”
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Patient-friendly integrated first trimester screening by NIPT and fetal anomaly scan by Srebniak, Malgorzata Ilona, Knapen, Maarten F C M, Joosten, Marieke, Diderich, Karin E M, Galjaard, Sander, Van Opstal, Diane

“…Many major structural fetal anomalies can be diagnosed by first trimester fetal anomaly scan. NIPT can accurately detect aneuploidies and large chromosomal…”
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Ethnicity and Language Proficiency Differences in the Provision of and Intention to Use Prenatal Screening for Down’s Syndrome and Congenital Anomalies. A Prospective, Non-selected, Register-Based Study in the Netherlands by Peters, Ingrid A., Heetkamp, Kirsten M., Ursem, Nicolette T. C., Steegers, Eric A. P., Denktaş, Semiha, Knapen, Maarten F. C. M.

“…Objective We aimed to conduct an analysis of the associations between the information provision procedure of prenatal screening for Down’s syndrome and…”
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Enlarged NT (≥3.5 mm) in the first trimester - not all chromosome aberrations can be detected by NIPT by Srebniak, Malgorzata I, de Wit, Merel C, Diderich, Karin E M, Govaerts, Lutgarde C P, Joosten, Marieke, Knapen, Maarten F C M, Bos, Marnix J, Looye-Bruinsma, Gerda A G, Koningen, Mieke, Go, Attie T J I, Galjaard, Robert Jan H, Van Opstal, Diane

“…Since non-invasive prenatal testing (NIPT) in maternal blood became available, we evaluated which chromosome aberrations found in our cohort of fetuses with an…”
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False Negative NIPT Results: Risk Figures for Chromosomes 13, 18 and 21 Based on Chorionic Villi Results in 5967 Cases and Literature Review by Van Opstal, Diane, Srebniak, Malgorzata I, Polak, Joke, de Vries, Femke, Govaerts, Lutgarde C P, Joosten, Marieke, Go, Attie T J I, Knapen, Maarten F C M, van den Berg, Cardi, Diderich, Karin E M, Galjaard, Robert-Jan H

“…Non-invasive prenatal testing (NIPT) demonstrated a small chance for a false negative result. Since the "fetal" DNA in maternal blood originates from the…”
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The Psychological Impact of Prenatal Diagnosis and Disclosure of Susceptibility Loci: First Impressions of Parents’ Experiences by van der Steen, S. L., Riedijk, S. R., Verhagen-Visser, J., Govaerts, L. C. P., Srebniak, M. I., Van Opstal, D., Joosten, M., Knapen, M. F. C. M., Tibben, A., Diderich, K. E. M., Galjaard, R. J. H.

“…Genomic microarray may detect susceptibility loci (SL) for neurodevelopmental disorders such as autism and epilepsy, with a yet unquantifiable risk for the…”
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Biallelic KIF24 Variants Are Responsible for a Spectrum of Skeletal Disorders Ranging From Lethal Skeletal Ciliopathy to Severe Acromesomelic Dysplasia by Reilly, Madeline Louise, Ain, Noor ul, Muurinen, Mari, Tata, Alice, Huber, Céline, Simon, Marleen, Ishaq, Tayyaba, Shaw, Nick, Rusanen, Salla, Pekkinen, Minna, Högler, Wolfgang, Knapen, Maarten F. C. M., Born, Myrthe, Saunier, Sophie, Naz, Sadaf, Cormier‐Daire, Valérie, Benmerah, Alexandre, Makitie, Outi

“…ABSTRACT Skeletal dysplasias comprise a large spectrum of mostly monogenic disorders affecting bone growth, patterning, and homeostasis, and ranging in…”
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Limited additional value of karyotyping cultured amniotic fluid cell colonies in addition to microarray on uncultured cells for confirmation of abnormal non-invasive prenatal testing results by Donze, Stephany H, Srebniak, Malgorzata I, Diderich, Karin E M, van den Born, Myrthe, Galjaard, Robert-Jan, Govaerts, Lutgarde C P, van der Schoot, Vyne, Knapen, Maarten F C M, Joosten, Marieke, Van Opstal, Diane

“…Non-invasive prenatal testing (NIPT) allows the detection of placental chromosome aberrations. To verify whether the fetus also has the chromosome aberration,…”
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Prenatal ultrasound finding of atypical genitalia: Counseling, genetic testing and outcomes by Bever, Yolande, Groenenberg, Irene A. L., Knapen, Maarten F. C. M., Dessens, Arianne B., Hannema, Sabine E., Wolffenbuttel, Katja P., Diderich, Karin E. M., Hoefsloot, Lies H., Srebniak, Malgorzata I., Bruggenwirth, Hennie T.

“…Objective To report uptake of genetic counseling (GC) and prenatal genetic testing after the finding of atypical genitalia on prenatal ultrasound (US) and the…”
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The High Diagnostic Yield of Prenatal Exome Sequencing Followed by 3400 Gene Panel Analysis in 629 Ongoing Pregnancies With Ultrasound Anomalies by Diderich, Karin E M, Bruggenwirth, Hennie T, Joosten, Marieke, Thurik, Florentine, Mijalkovic, Jona, Polak, Marike, Kromosoeto, Joan, Somers-Bolman, Galhana M, van den Born, Myrthe, Drost, Mark, Galjaard, Robert Jan H, Galjaard, Sander, Hoefsloot, Lies H, Knapen, Maarten F C M, van Minkelen, Rick, van der Schoot, Vyne, van Slegtenhorst, Marjon A, Sleutels, Frank, Stuurman, Kyra E, Weerts, Marjolein J A, Go, Attie T J I, Wilke, Martina, Srebniak, Malgorzata I

“…The aim of this study was to evaluate the diagnostic yield of routine exome sequencing (ES) in fetuses with ultrasound anomalies. We performed a retrospective…”
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Factors associated with poor outcome in fetuses prenatally diagnosed with sacrococcygeal teratoma by Heurn, Lieke J., Coumans, Audrey B. C., Derikx, Joep P. M., Bekker, Mireille N., Bilardo, Katia M., Duin, Leonie K., Knapen, Maarten F. C. M., Pajkrt, Eva, Sikkel, Esther, Heurn, L. W. Ernest, Oepkes, Dick

“…Aim of the study Outcome of fetuses, prenatally diagnosed with sacrococcygeal teratoma (SCT), is still poorly documented. This study assesses the incidence and…”
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Interstitial 6q21q23 duplication - variant of variable phenotype and incomplete penetrance or benign duplication? by Srebniak, Malgorzata I, van Zutven, Laura J C M, Petit, Florence, Bouquillon, Sonia, van Heel, Ilse P J, Knapen, Maarten F C M, Cornette, Jerome M J, Kremer, Andreas, Van Opstal, Diane, Diderich, Karin E M

“…Chromosome 6q duplication syndrome is a chromosome abnormality associated with characteristic phenotypic features such as intellectual disability (ID), short…”
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Social and medical need for whole genome high resolution NIPT by Srebniak, Malgorzata I., Knapen, Maarten F. C. M., Govaerts, Lutgarde C. P., Polak, Marike, Joosten, Marieke, Diderich, Karin E. M., van Zutven, Laura J. C. M., Prinsen, Krista A. K. E., Riedijk, Sam, Go, Attie T. J. I., Galjaard, Robert‐Jan H., Hoefsloot, Lies H., Van Opstal, Diane

“…Background Two technological innovations in the last decade significantly influenced the diagnostic yield of prenatal cytogenetic testing: genomic microarray…”
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Dietary vitamin A intake below the recommended daily intake during pregnancy and the risk of congenital diaphragmatic hernia in the offspring by Beurskens, Leonardus W. J. E., Schrijver, Lieske H., Tibboel, Dick, Wildhagen, Mark F., Knapen, Maarten F. C. M., Lindemans, Jan, de Vries, Jeanne, Steegers-Theunissen, Régine P. M.

“…BACKGROUND Vitamin A has been related to the etiology of congenital diaphragmatic hernia (CDH). We performed a case‐control study to investigate whether…”
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Pregnancy outcome after fetal reduction in women with a dichorionic twin pregnancy by van de Mheen, L., Everwijn, S.M.P., Knapen, M.F.C.M., Haak, M.C., Engels, M.A.J., Manten, G.T.R., Zondervan, H.A., Wirjosoekarto, S.A.M., van Vugt, J.M.G., Erwich, J.J.H.M., Bilardo, C.M., van Pampus, M.G., de Groot, C.J.M., Mol, B.W.J., Pajkrt, E.

“…STUDY QUESTION What are the pregnancy outcomes for women with a twin pregnancy that is reduced to a singleton pregnancy? SUMMARY ANSWER Fetal reduction of a…”
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