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242 results on '"Opstal, D."'

1. Prenatal cell-free DNA testing of women with pregnancy-associated cancer: a retrospective cross-sectional study

Author

Sistermans, E.A., Henneman, L., Polstra, A., Voorhoeve, E., Zelderen-Bohla, S.L., Boon, E.M.J., Lombardi, M.P.R., Louwerens-Zintel, C., Smit, M., van Maarle, M.C., Tan-Sindhunata, M.B., van der Meij, K., Meij, H., Bax, C., Pajkrt, E., Linskens, I.H., Martin, L., Gitsels-van der Wal, J.T., Galjaard, R.J.H., Van Opstal, D., Srebniak, M.I., Jehee, F.M. Sarquis, Hollink, I.H.I.M., Sleutels, F., de Valk, W., Deelen, W.H., Joosten, A.M.S., Diderich, K.E.M., Redeker, M.E., Go, A.T.J.I., Knapen, M.F.C.M., Galjaard, S., Prinsen, A.K.E., Braat, A.P.G., Macville, M.V.E., Stevens, S.J.C., van der Wijngaard, A., Houben, L.H., van Esch-Lennarts, M.A.A., Hamers, L., Jetten, A.G.P., Ghesquiere, S.A.I., Koning, B. de, ZamaniEsteki, M., Heesterbeek, C.J., de Die-Smulders, C.E.M., Brunner, H., Pieters, M.J., Coumans, A.B.C., Smeets, D.F.C.M., Faas, B.H.W., Westra, D., Weiss, M.M., Derks-Prinsen, I., Feenstra, I., van Rij, M., Sikkel, E., Hoffer, M.J.V., Hollander, N.S. den, Verweij, E.J.T., Haak, M.C., Suijkerbuijk, R.F., Sikkema-Raddatz, B., van Langen, I.M., Bouman, K., Duin, L.K., Schuring-Blom, G.H., Lichtenbelt, K.D., Bekker, M.N., van der Ven, A.J.E.M., van Vliet-Lachotzki, E., Pot, J., van ‘t Padje, S., Bakker, I.M.C., Bradley, E.J., Heesterbeek, Catharina J., Tjan-Heijnen, Vivianne C.G., Heimovaara, Joosje H., Lenaerts, Liesbeth, Lok, Christianne, Vriens, Ingeborg J.H., Van Opstal, Diane, Boon, Elles M.J., Sie, Daoud, de Die-Smulders, Christine E.M., Amant, Frédéric, and Macville, Merryn V.E.

Published
2024
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3. Confined placental mosaicism:Distribution of chromosomally abnormal cells over the term placenta

Author

Eggenhuizen, G. M., van Veen, S., van Koetsveld, N., Go, A. T.J.I., Diderich, K. E.M., Joosten, M., van den Born, M., Srebniak, M. I., Van Opstal, D., Eggenhuizen, G. M., van Veen, S., van Koetsveld, N., Go, A. T.J.I., Diderich, K. E.M., Joosten, M., van den Born, M., Srebniak, M. I., and Van Opstal, D.

Abstract

Objective: Non-invasive prenatal testing (NIPT) investigates placental DNA and may detect confined placental mosaicism (CPM). The aim of this study was to confirm CPM in the term placenta in cases with abnormal NIPT but normal follow-up cytogenetic studies of fetus and mother. Additionally we examined the distribution of abnormal cells over the placenta. Methods: Four chorionic villus (CV) biopsies from four placental quadrants were requested in cases where CPM was assumed. Both cell lineages of the CV, cytotrophoblast (CTB) and mesenchymal core (MC), were analyzed separately with SNP array. Results: The chromosome aberration was confirmed in 67 % of the placentas. Three quarters of the CTB and MC biopsies from these mosaic placentas were uniformly normal (57 %) or abnormal (20 %), and a minority showed mosaicism. Among 16 cases of CPM where first trimester CV were examined as well, 11 had chromosomally normal results during pregnancy. Discussion: Cytogenetic investigations of term placental biopsies suspected to be affected with CPM did not reveal the chromosome aberration in one third of the placentas. This is caused by the patchy pattern in which chromosomally abnormal cells are distributed over the placenta with the majority of the biopsies being uniformly normal. Further CPM research, including its clinical impact, requires the analysis of more than four biopsies to get insight into the extent of the affected part. Moreover, a subset of CPM type 1 and 3 seems to be only detectable with NIPT and not with first trimester CVS.

Published
2024

5. Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing

Author

Schuurman, L.V., Sistermans, E.A., Opstal, D. van, Henneman, L., Bekker, M.N., Bax, C.J., Pieters, M.J., Bouman, K., Munnik, S. de, Hollander, N.S. den, Diderich, K.E.M., Faas, B.H.W., Feenstra, I., Go, A.T.J.I., Hoffer, M.J.V., Joosten, M., Komdeur, F.L., Lichtenbelt, K.D., Lombardi, M.P., Polak, M.G., Jehee, F.S., Schuring-Blom, H., Stevens, S.J.C., Srebniak, M.I., Suijkerbuijk, R.F., Tan-Sindhunata, G.M., Meij, K.R.M. van der, Maarle, M.C. van, Vernimmen, V., Zelderen-Bhola, S.L. van, Ravesteyn, N.T. van, Knapen, M.F.C.M., Macville, M.V.E., Galjaard, R.J.H., Dutch NIPT Consortium, Human genetics, Amsterdam Reproduction & Development (AR&D), Obstetrics and gynaecology, Pathology, Rehabilitation medicine, APH - Quality of Care, Obstetrics and Gynaecology, Human Genetics, ACS - Pulmonary hypertension & thrombosis, ARD - Amsterdam Reproduction and Development, Public Health, Clinical Genetics, Obstetrics & Gynecology, Department of Psychology, Education and Child Studies, Clinical genetics, Amsterdam Reproduction & Development, Emergency Medicine, Research Methods and Techniques, RS: GROW - R4 - Reproductive and Perinatal Medicine, Obstetrie & Gynaecologie, MUMC+: MA Medische Staf Obstetrie Gynaecologie (9), MUMC+: DA KG Lab Specialisten (9), MUMC+: DA KG Lab Centraal Lab (9), MUMC+: DA KG Polikliniek (9), and MUMC+: DA KG AIOS (9)

Subjects
Placenta, Trisomy, first tier test, Cohort Studies, genome-wide, Pregnancy, Prenatal Diagnosis/methods, Prenatal Diagnosis, Genetics, Humans, cfDNA, Genetics (clinical), confined placental mosaicism, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Mosaicism, Other Research Radboud Institute for Health Sciences [Radboudumc 0], NIPS, fetal trisomy, PREECLAMPSIA, common trisomies, prenatal screening, CELL-FREE DNA, Female, NIPT, Follow-Up Studies, rare autosomal trisomies
Abstract

Contains fulltext : 251979.pdf (Publisher’s version ) (Open Access) In the TRIDENT-2 study, all pregnant women in the Netherlands are offered genome-wide non-invasive prenatal testing (GW-NIPT) with a choice of receiving either full screening or screening solely for common trisomies. Previous data showed that GW-NIPT can reliably detect common trisomies in the general obstetric population and that this test can also detect other chromosomal abnormalities (additional findings). However, evidence regarding the clinical impact of screening for additional findings is lacking. Therefore, we present follow-up results of the TRIDENT-2 study to determine this clinical impact based on the laboratory and perinatal outcomes of cases with additional findings. Between April 2017 and April 2019, additional findings were detected in 402/110,739 pregnancies (0.36%). For 358 cases, the origin was proven to be either fetal (n = 79; 22.1%), (assumed) confined placental mosaicism (CPM) (n = 189; 52.8%), or maternal (n = 90; 25.1%). For the remaining 44 (10.9%), the origin of the aberration could not be determined. Most fetal chromosomal aberrations were pathogenic and associated with severe clinical phenotypes (61/79; 77.2%). For CPM cases, occurrence of pre-eclampsia (8.5% [16/189] vs 0.5% [754/159,924]; RR 18.5), and birth weight

Published
2022
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9. Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study

Author

Prooyen Schuurman, L. van, Sistermans, E.A., Opstal, D. Van, Henneman, L., Bekker, M.N., Bax, C.J., Pieters, M.J., Bouman, Katelijne, Munnik, S.A. de, Hollander, N.S. den, Diderich, K.E.M., Faas, B.H.W., Feenstra, I., Go, A., Hoffer, M.J.V., Joosten, Marieke, Komdeur, F.L., Lichtenbelt, K.D., Lombardi, M.P., Polak, M.G., Jehee, F.S., Schuring-Blom, H., Stevens, S.J.C., Srebniak, M.I., Suijkerbuijk, R.F., Tan-Sindhunata, G.M., Meij, K.R.M. van der, Maarle, M.C. van, Vernimmen, V., Zelderen-Bhola, S.L. van, Ravesteyn, N.T. van, Knapen, M., Macville, M.V.E., Galjaard, R.H., Prooyen Schuurman, L. van, Sistermans, E.A., Opstal, D. Van, Henneman, L., Bekker, M.N., Bax, C.J., Pieters, M.J., Bouman, Katelijne, Munnik, S.A. de, Hollander, N.S. den, Diderich, K.E.M., Faas, B.H.W., Feenstra, I., Go, A., Hoffer, M.J.V., Joosten, Marieke, Komdeur, F.L., Lichtenbelt, K.D., Lombardi, M.P., Polak, M.G., Jehee, F.S., Schuring-Blom, H., Stevens, S.J.C., Srebniak, M.I., Suijkerbuijk, R.F., Tan-Sindhunata, G.M., Meij, K.R.M. van der, Maarle, M.C. van, Vernimmen, V., Zelderen-Bhola, S.L. van, Ravesteyn, N.T. van, Knapen, M., Macville, M.V.E., and Galjaard, R.H.

Abstract

Item does not contain fulltext, In the TRIDENT-2 study, all pregnant women in the Netherlands are offered genome-wide non-invasive prenatal testing (GW-NIPT) with a choice of receiving either full screening or screening solely for common trisomies. Previous data showed that GW-NIPT can reliably detect common trisomies in the general obstetric population and that this test can also detect other chromosomal abnormalities (additional findings). However, evidence regarding the clinical impact of screening for additional findings is lacking. Therefore, we present follow-up results of the TRIDENT-2 study to determine this clinical impact based on the laboratory and perinatal outcomes of cases with additional findings. Between April 2017 and April 2019, additional findings were detected in 402/110,739 pregnancies (0.36%). For 358 cases, the origin was proven to be either fetal (n = 79; 22.1%), (assumed) confined placental mosaicism (CPM) (n = 189; 52.8%), or maternal (n = 90; 25.1%). For the remaining 44 (10.9%), the origin of the aberration could not be determined. Most fetal chromosomal aberrations were pathogenic and associated with severe clinical phenotypes (61/79; 77.2%). For CPM cases, occurrence of pre-eclampsia (8.5% [16/189] vs 0.5% [754/159,924]; RR 18.5), and birth weight <2.3rd percentile (13.6% [24/177] vs 2.5% [3,892/155,491]; RR 5.5) were significantly increased compared to the general obstetric population. Of the 90 maternal findings, 12 (13.3%) were malignancies and 32 (35.6%) (mosaic) pathogenic copy number variants, mostly associated with mild or no clinical phenotypes. Data from this large cohort study provide crucial information for deciding if and how to implement GW-NIPT in screening programs. Additionally, these data can inform the challenging interpretation, counseling, and follow-up of additional findings.

Published
2022

13. The potential diagnostic yield of whole exome sequencing in pregnancies complicated by fetal ultrasound anomalies

Author

Diderich, Karin, Romijn, Kathleen, Joosten, Marieke, Govaerts, LCP, Polak, Marike, Brüggenwirth, Hennie, Wilke, Martina, van Slegtenhorst, Marjon, Bever, Yolande, Brooks, Alice, Verheijen - Mancini, Grazia, De Graaf - van de Laar, Ingrid, Kromosoeto, Joan, Knapen, Maarten, Go, Attie, Opstal, D, Hoefsloot, EH, Galjaard, Robert-Jan, Srebniak, Gosia, Diderich, Karin, Romijn, Kathleen, Joosten, Marieke, Govaerts, LCP, Polak, Marike, Brüggenwirth, Hennie, Wilke, Martina, van Slegtenhorst, Marjon, Bever, Yolande, Brooks, Alice, Verheijen - Mancini, Grazia, De Graaf - van de Laar, Ingrid, Kromosoeto, Joan, Knapen, Maarten, Go, Attie, Opstal, D, Hoefsloot, EH, Galjaard, Robert-Jan, and Srebniak, Gosia

Abstract

Introduction The aim of this retrospective cohort study was to determine the potential diagnostic yield of prenatal whole exome sequencing in fetuses with structural anomalies on expert ultrasound scans and normal chromosomal microarray results. Material and methods In the period 2013-2016, 391 pregnant women with fetal ultrasound anomalies who received normal chromosomal microarray results, were referred for additional genetic counseling and opted for additional molecular testing pre- and/or postnatally. Most of the couples received only a targeted molecular test and in 159 cases (40.7%) whole exome sequencing (broad gene panels or open exome) was performed. The results of these molecular tests were evaluated retrospectively, regardless of the time of the genetic diagnosis (prenatal or postnatal). Results In 76 of 391 fetuses (19.4%, 95% CI 15.8%-23.6%) molecular testing provided a genetic diagnosis with identification of (likely) pathogenic variants. In the majority of cases (91.1%, 73/76) the (likely) pathogenic variant would be detected by prenatal whole exome sequencing analysis. Conclusions Our retrospective cohort study shows that prenatal whole exome sequencing, if offered by a clinical geneticist, in addition to chromosomal microarray, would notably increase the diagnostic yield in fetuses with ultrasound anomalies and would allow early diagnosis of a genetic disorder irrespective of the (incomplete) fetal phenotype.

Published
2021

18. Origin and clinical relevance of chromosomal aberrations other than the common trisomies detected by genome-wide NIPS: results of the TRIDENT study

Author

Opstal, D. van, Maarle, M.C. van, Lichtenbelt, K., Weiss, M.M., Schuring-Blom, H., Bhola, S.L., Hoffer, M.J.V., Huijsdens-van Amsterdam, K., Macville, M.V., Kooper, A.J.A., Faas, B.H.W., Govaerts, L., Tan-Sindhunata, G.M., Hollander, N. den, Feenstra, I., Galjaard, R.J.H., Oepkes, D., Ghesquiere, S., Brouwer, R.W.W., Beulen, L., Bollen, S., Elferink, M.G., Straver, R., Henneman, L., Page-Christiaens, G.C., Sistermans, E.A., Dutch NIPT Consortium, MUMC+: DA KG Lab Centraal Lab (9), RS: FHML non-thematic output, Human Genetics, Human genetics, Amsterdam Reproduction & Development (AR&D), APH - Quality of Care, Amsterdam Neuroscience - Complex Trait Genetics, Clinical Genetics, and Cell biology

Subjects
0301 basic medicine, CVS MOSAICISM, FETAL DNA, Placenta, DUTCH LABORATORIES, MATERNAL MALIGNANCIES, Aneuploidy, noninvasive testing, Chromosome Disorders, Trisomy, genome-wide NIPS, Bioinformatics, 0302 clinical medicine, Pregnancy, Prenatal Diagnosis/methods, Prenatal Diagnosis, TERM PLACENTAE, Original Research Article, Confined placental mosaicism, Genetics (clinical), confined placental mosaicism, 030219 obstetrics & reproductive medicine, ANEUPLOIDIES, Pregnancy Outcome, Genomics, ASSOCIATION, trisomy 21, CONFIRMATION, Reconstructive and regenerative medicine Radboud Institute for Molecular Life Sciences [Radboudumc 10], Cell-free fetal DNA, CELL-FREE DNA, Female, Genetic Testing/methods, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], medicine.medical_specialty, DNA Copy Number Variations, Prenatal diagnosis, Chromosome aberration, 03 medical and health sciences, All institutes and research themes of the Radboud University Medical Center, medicine, Placenta/metabolism, Humans, Genetic Testing, PRENATAL-DIAGNOSIS, Gynecology, Chromosome Aberrations, Autosome, Whole Genome Sequencing, business.industry, ANEUPLOIDY, Chromosome Disorders/diagnosis, Other Research Radboud Institute for Health Sciences [Radboudumc 0], Chromosome, medicine.disease, Genomics/methods, 030104 developmental biology, prenatal screening, business, FOLLOW-UP
Abstract

PurposeNoninvasive prenatal screening (NIPS) using cell-free DNA in maternal blood is highly sensitive for detecting fetal trisomies 21, 18, and 13. Using a genome-wide approach, other chromosome anomalies can also be detected. We report on the origin, frequency, and clinical significance of these other chromosome aberrations found in pregnancies at risk for trisomy 21, 18, or 13.MethodsWhole-genome shallow massively parallel sequencing was used and all autosomes were analyzed.ResultsIn 78 of 2,527 cases (3.1%) NIPS was indicative of trisomy 21, 18, or 13, and in 41 (1.6%) of other chromosome aberrations. The latter were of fetal (n = 10), placental (n = 22), maternal (n = 1) or unknown (n = 7). One case lacked cytogenetic follow-up. Nine of the 10 fetal cases were associated with an abnormal phenotype. Thirteen of the 22 (59%) placental aberrations were associated with fetal congenital anomalies and/or poor fetal growth (

Published
2018
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21. TRIDENT-2: National Implementation of Genome-Wide Non-Invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands

Author

Meij, K.R.M. van der, Sistermans, E.A., Macville, M.V.E., Stevens, S.J.C., Bax, C.J., Bekker, M.N., Bilardo, C.M., Boon, E.M.J., Boter, M., Diderich, K.E.M., Die-Smulders, C.E.M. de, Duin, L.K., Faas, B.H.W., Feenstra, I., Haak, M.C., Hoffer, M.J.V., Hollander, N.S. den, Hollink, I.H.I.M., Jehee, F.S., Knapen, M.F.C.M., Kooper, A.J.A., Langen, I.M. van, Lichtenbelt, K.D., Linskens, I.H., Maarle, M.C. van, Oepkes, D., Pieters, M.J., Schuring-Blom, G.H., Sikkel, E., Sikkema-Raddatz, B., Smeets, D.F.C.M., Srebniak, M.I., Suijkerbuijk, R.F., Tan-Sindhunata, G.M., Ven, A.J.E.M. van der, Zelderen-Bhola, S.L. van, Henneman, L., Galjaard, R.J.H., Opstal, D. van, Weiss, M.M., Dutch NIPT Consortium, Health Psychology Research (HPR), Reproductive Origins of Adult Health and Disease (ROAHD), Obstetrics and Gynaecology, Human Genetics, Clinical Genetics, MUMC+: DA KG Lab Centraal Lab (9), RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: DA KG Polikliniek (9), Klinische Genetica, Obstetrie & Gynaecologie, MUMC+: MA Medische Staf Obstetrie Gynaecologie (9), Human genetics, Amsterdam Reproduction & Development (AR&D), Amsterdam Neuroscience - Complex Trait Genetics, Obstetrics and gynaecology, and APH - Quality of Care

Subjects
0301 basic medicine, Trisomy 13 Syndrome, IMPACT, 030105 genetics & heredity, genome-wide, 0302 clinical medicine, Pregnancy, Prenatal Diagnosis/methods, Prenatal Diagnosis, Down Syndrome/diagnosis, Genetics(clinical), DOWN-SYNDROME, Young adult, cfDNA, First, Genetics (clinical), Netherlands, Trisomy 13 Syndrome/diagnosis, Genome, 030219 obstetrics & reproductive medicine, Obstetrics, implementation study, Middle Aged, Prognosis, fetal trisomy, common trisomies, Parental anxiety, CELL-FREE DNA, Christian ministry, Female, Pregnancy Trimester, HEALTH, Genetic Testing/methods, PREGNANT-WOMEN, Human, rare autosomal trisomies, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], Adult, medicine.medical_specialty, Screening test, Adolescent, first tier test, Netherlands/epidemiology, Prenatal care, ORGANIZATION, Article, 03 medical and health sciences, Young Adult, All institutes and research themes of the Radboud University Medical Center, medicine, Genetics, Journal Article, Humans, Genetic Testing, Trisomy 18 Syndrome/diagnosis, Chromosome Aberrations, business.industry, Genome, Human, Non invasive, Other Research Radboud Institute for Health Sciences [Radboudumc 0], Health Plan Implementation, medicine.disease, NIPS, Pregnancy Trimester, First, prenatal screening, EXPERIENCE, Down Syndrome, Trisomy, business, NIPT, Trisomy 18 Syndrome, Follow-Up Studies
Abstract

The Netherlands launched a nationwide implementation study on non-invasive prenatal testing (NIPT) as a first-tier test offered to all pregnant women. This started on April 1, 2017 as the TRIDENT-2 study, licensed by the Dutch Ministry of Health. In the first year, NIPT was performed in 73,239 pregnancies (42% of all pregnancies), 7,239 (4%) chose first-trimester combined testing, and 54% did not participate. The number of trisomies 21 (239, 0.33%), 18 (49, 0.07%), and 13 (55, 0.08%) found in this study is comparable to earlier studies, but the Positive Predictive Values (PPV)—96% for trisomy 21, 98% for trisomy 18, and 53% for trisomy 13—were higher than expected. Findings other than trisomy 21, 18, or 13 were reported on request of the pregnant women; 78% of women chose to have these reported. The number of additional findings was 207 (0.36%); these included other trisomies (101, 0.18%, PPV 6%, many of the remaining 94% of cases are likely confined placental mosaics and possibly clinically significant), structural chromosomal aberrations (95, 0.16%, PPV 32%,) and complex abnormal profiles indicative of maternal malignancies (11, 0.02%, PPV 64%). The implementation of genome-wide NIPT is under debate because the benefits of detecting other fetal chromosomal aberrations must be balanced against the risks of discordant positives, parental anxiety, and a potential increase in (invasive) diagnostic procedures. Our first-year data, including clinical data and laboratory follow-up data, will fuel this debate. Furthermore, we describe how NIPT can successfully be embedded into a national screening program with a single chain for prenatal care including counseling, testing, and follow-up.

Published
2019
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26. TRIDENT-2: National Implementation of Genome-wide Non-invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands

Author

Meij, Karuna R.M. van der, Sistermans, Erik A., Macville, Merryn V. E., Stevens, S.J.C., Bax, C.J., Bekker, M.N., Faas, B.H.W., Feenstra, I., Sikkel, E., Smeets, D.F.C.M., Opstal, D. Van, Weiss, M.M., Meij, Karuna R.M. van der, Sistermans, Erik A., Macville, Merryn V. E., Stevens, S.J.C., Bax, C.J., Bekker, M.N., Faas, B.H.W., Feenstra, I., Sikkel, E., Smeets, D.F.C.M., Opstal, D. Van, and Weiss, M.M.

Abstract

Item does not contain fulltext

Published
2019

27. Social and medical need for whole genome high resolution NIPT

Author

Srebniak, Gosia, Knapen, Maarten, Govaerts, LCP, Polak, Marike, Joosten, Marieke, Diderich, Karin, van Zutven, Laura, Prinsen, Krista, Riedijk, Sam, Go, Attie, Galjaard, Robert-Jan, Hoefsloot, EH, Opstal, D, Srebniak, Gosia, Knapen, Maarten, Govaerts, LCP, Polak, Marike, Joosten, Marieke, Diderich, Karin, van Zutven, Laura, Prinsen, Krista, Riedijk, Sam, Go, Attie, Galjaard, Robert-Jan, Hoefsloot, EH, and Opstal, D

Published
2019

31. Origin and clinical relevance of chromosomal aberrations other than the common trisomies detected by genome-wide NIPS: results of the TRIDENT study

Author

Opstal, D, van Maarle, MC, Lichtenbelt, K, Weiss, MM, Schuring-Blom, H, Bhola, SL, Hoffer, MJV, van Amsterdam, K, Macville, MV, Kooper, AJA, Faas, BHW, Govaerts, LCP, Tan-Sindhunata, GM, den Hollander, N, Feenstra, I, Galjaard, Robert-Jan, Oepkes, D, Ghesquiere, S, Brouwer, Rutger, Beulen, L, Bollen, S, Elferink, MG, Straver, R, Henneman, L, Page-Christiaens, GC, Sistermans, EA, Opstal, D, van Maarle, MC, Lichtenbelt, K, Weiss, MM, Schuring-Blom, H, Bhola, SL, Hoffer, MJV, van Amsterdam, K, Macville, MV, Kooper, AJA, Faas, BHW, Govaerts, LCP, Tan-Sindhunata, GM, den Hollander, N, Feenstra, I, Galjaard, Robert-Jan, Oepkes, D, Ghesquiere, S, Brouwer, Rutger, Beulen, L, Bollen, S, Elferink, MG, Straver, R, Henneman, L, Page-Christiaens, GC, and Sistermans, EA

Published
2018

35. Choosing between Higher and Lower Resolution Microarrays: do Pregnant Women Have Sufficient Knowledge to Make Informed Choices Consistent with their Attitude?

Author

Steen, Sanne, Bunnik, Eline maria, Polak, Marike, Diderich, Karin, Verhagen-Visser, J, Govaerts, LCP, Joosten, Marieke, Knapen, Maarten, Go, Attie, Opstal, D, Srebniak, Gosia, Galjaard, Robert-Jan, Tibben, A, Riedijk, Sam, Steen, Sanne, Bunnik, Eline maria, Polak, Marike, Diderich, Karin, Verhagen-Visser, J, Govaerts, LCP, Joosten, Marieke, Knapen, Maarten, Go, Attie, Opstal, D, Srebniak, Gosia, Galjaard, Robert-Jan, Tibben, A, and Riedijk, Sam

Published
2017

37. P16.05: The influence of chromosomal microarray and NIPT on the diagnostic yield in 6,811 high-risk pregnancies without ultrasound anomalies

Author

Srebniak, M.I., primary, Knapen, M., additional, Polak, M., additional, Joosten, M., additional, Diderich, K.E., additional, Govaerts, L., additional, Ijcken, W.F., additional, Heydanus, R., additional, Dijkman, A., additional, Toolenaar, T., additional, de Vries, F.A., additional, Knijnenburg, J., additional, Go, A., additional, Galjaard, R.J., additional, and Van Opstal, D., additional

Published
2017
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39. Trial by Dutch laboratories for evaluation of non-invasive prenatal testing. Part I-clinical impact

Author

Oepkes, D., Page-Christiaens, G.C., Bax, C.J., Bekker, M.N., Bilardo, C.M., Boon, E.M., Schuring-Blom, G.H., Coumans, A.B., Faas, B.H.W., Galjaard, R.H., Go, A.T., Henneman, L., Macville, M.V., Pajkrt, E., Suijkerbuijk, R.F., Amsterdam, K. Huijsdens-van, Opstal, D. Van, Verweij, E.J., Weiss, M.M., Sistermans, E.A., Oepkes, D., Page-Christiaens, G.C., Bax, C.J., Bekker, M.N., Bilardo, C.M., Boon, E.M., Schuring-Blom, G.H., Coumans, A.B., Faas, B.H.W., Galjaard, R.H., Go, A.T., Henneman, L., Macville, M.V., Pajkrt, E., Suijkerbuijk, R.F., Amsterdam, K. Huijsdens-van, Opstal, D. Van, Verweij, E.J., Weiss, M.M., and Sistermans, E.A.

Abstract

Contains fulltext : 171862.pdf (publisher's version ) (Open Access), OBJECTIVE: To evaluate the clinical impact of nationwide implementation of genome-wide non-invasive prenatal testing (NIPT) in pregnancies at increased risk for fetal trisomies 21, 18 and 13 (TRIDENT study). METHOD: Women with elevated risk based on first trimester combined testing (FCT >/= 1:200) or medical history, not advanced maternal age alone, were offered NIPT as contingent screening test, performed by Dutch University Medical laboratories. We analyzed uptake, test performance, redraw/failure rate, turn-around time and pregnancy outcome. RESULTS: Between 1 April and 1 September 2014, 1413/23 232 (6%) women received a high-risk FCT result. Of these, 1211 (85.7%) chose NIPT. One hundred seventy-nine women had NIPT based on medical history. In total, 1386/1390 (99.7%) women received a result, 6 (0.4%) after redraw. Mean turn-around time was 14 days. Follow-up was available in 1376 (99.0%) pregnancies. NIPT correctly predicted 37/38 (97.4%) trisomies 21, 18 or 13 (29/30, 4/4 and 4/4 respectively); 5/1376 (0.4%) cases proved to be false positives: trisomies 21 (n = 2), 18 (n = 1) and 13 (n = 2). Estimated reduction in invasive testing was 62%. CONCLUSION: Introduction of NIPT in the Dutch National healthcare-funded Prenatal Screening Program resulted in high uptake and a vast reduction of invasive testing. Our study supports offering NIPT to pregnant women at increased risk for fetal trisomy. (c) 2016 The Authors. Prenatal Diagnosis published by John Wiley & Sons, Ltd. (c) 2016 The Authors. Prenatal Diagnosis published by John Wiley & Sons, Ltd.

Published
2016

40. Trial by Dutch laboratories for evaluation of non-invasive prenatal testing. Part I-clinical impact

Author

Oepkes, D, Page-Christiaens, GCL, Bax, CJ, Bekker, MN, Bilardo, CM, Boon, EMJ, Schuring-Blom, GH, Coumans, ABC, Faas, BH, Galjaard, Robert-Jan, Go, Attie, Henneman, L, Macville, MVE, Pajkrt, E, Suijkerbuijk, RF, van Amsterdam, K, Opstal, D, Verweij, EJJ, Weiss, MM, Sistermans, EA, Oepkes, D, Page-Christiaens, GCL, Bax, CJ, Bekker, MN, Bilardo, CM, Boon, EMJ, Schuring-Blom, GH, Coumans, ABC, Faas, BH, Galjaard, Robert-Jan, Go, Attie, Henneman, L, Macville, MVE, Pajkrt, E, Suijkerbuijk, RF, van Amsterdam, K, Opstal, D, Verweij, EJJ, Weiss, MM, and Sistermans, EA

Published
2016

41. The Psychological Impact of Prenatal Diagnosis and Disclosure of Susceptibility Loci:First Impressions of Parents' Experiences

Author

van der Steen, Sanne, Riedijk, Sam, Verhagen-Visser, J., Govaerts, LCP, Srebniak, Gosia, Opstal, D, Joosten, Marieke, Knapen, Maarten, Tibben, A, Diderich, Karin, Galjaard, Robert-Jan, van der Steen, Sanne, Riedijk, Sam, Verhagen-Visser, J., Govaerts, LCP, Srebniak, Gosia, Opstal, D, Joosten, Marieke, Knapen, Maarten, Tibben, A, Diderich, Karin, and Galjaard, Robert-Jan

Published
2016

42. False Negative NIPT Results: Risk Figures for Chromosomes 13, 18 and 21 Based on Chorionic Villi Results in 5967 Cases and Literature Review

Author

Opstal, D, Srebniak, Gosia, Knook, Joke, Vries, Femke, Govaerts, LCP, Joosten, Marieke, Go, Attie, Knapen, Maarten, Berg, Conny, Diderich, Karin, Galjaard, Robert-Jan, Opstal, D, Srebniak, Gosia, Knook, Joke, Vries, Femke, Govaerts, LCP, Joosten, Marieke, Go, Attie, Knapen, Maarten, Berg, Conny, Diderich, Karin, and Galjaard, Robert-Jan

Abstract

Non-invasive prenatal testing (NIPT) demonstrated a small chance for a false negative result. Since the "fetal" DNA in maternal blood originates from the cytotrophoblast of chorionic villi (CV), some false negative results will have a biological origin. Based on our experience with cytogenetic studies of CV, we tried to estimate this risk. 5967 CV samples of pregnancies at high risk for common aneuplodies were cytogenetically investigated in our centre between January 2000 and December 2011. All cases of fetal trisomy 13, 18 and 21 were retrospectively studied for the presence of a normal karyotype or mosaicism < 30% in short-term cultured (STC-) villi. 404 cases of trisomies 13, 18 and 21 were found amongst 5967 samples (6,8%). Of these 404 cases, 14 (3,7%) had a normal or low mosaic karyotype in STC-villi and therefore would potentially be missed with NIPT. It involved 2% (5/242) of all trisomy 21 cases and 7.3% (9/123) of all trisomy 18 cases. In 1:426 (14/5967) NIPT samples of patients at high risk for common aneuploidies, a trisomy 18 or 21 will potentially be missed due to the biological phenomenon of absence of the chromosome aberration in the cytotrophoblast.

Published
2016

43. Enlarged NT (>= 3.5 mm) in the first trimester - not all chromosome aberrations can be detected by NIPT

Author

Srebniak, Gosia, Wit, Charlotte, Diderich, Karin, Govaerts, LCP, Joosten, Marieke, Knapen, Maarten, Bos, Marnix, Bruinsma, Gerda, Koningen, Mieke, Go, Attie, Galjaard, Robert-Jan, Opstal, D, Srebniak, Gosia, Wit, Charlotte, Diderich, Karin, Govaerts, LCP, Joosten, Marieke, Knapen, Maarten, Bos, Marnix, Bruinsma, Gerda, Koningen, Mieke, Go, Attie, Galjaard, Robert-Jan, and Opstal, D

Abstract

Background: Since non-invasive prenatal testing (NIPT) in maternal blood became available, we evaluated which chromosome aberrations found in our cohort of fetuses with an enlarged NT in the first trimester of pregnancy (tested with SNP microarray) could be detected by NIPT as well. Method: 362 fetuses were referred for cytogenetic testing due to an enlarged NT (>= 3.5 mm). Chromosome aberrations were investigated using QF-PCR, karyotyping and whole genome SNP array. Results: After invasive testing a chromosomal abnormality was detected in 137/362 (38 %) fetuses. 100/362 (28 %) cases concerned trisomy 21, 18 or 13, 25/362 (7 %) an aneuploidy of sex chromosomes and 3/362 (0.8 %) triploidy. In 6/362 (1.6 %) a pathogenic structural unbalanced chromosome aberration was seen and in 3/362 (0.8 %) a susceptibility locus for neurodevelopmental disorders was found. We estimated that in 2-10 % of fetuses with enlarged NT a chromosome aberration would be missed by current NIPT approaches. Conclusion: Based on our cohort of fetuses with enlarged NT we may conclude that NIPT, depending on the approach, will miss chromosome aberrations in a significant percentage of pregnancies. Moreover all abnormal NIPT results require confirmatory studies with invasive testing, which will delay definitive diagnosis in ca. 30 % of patients. These figures are important for pretest counseling enabling pregnant women to make informed choices on the prenatal test. Larger cohorts of fetuses with an enlarged NT should be investigated to assess the additional diagnostic value of high resolution array testing for this indication.

Published
2016

44. Additional value of prenatal genomic array testing in fetuses with isolated structural ultrasound abnormalities and a normal karyotype: a systematic review of the literature

Author

Wit, Charlotte, Srebniak, Gosia, Govaerts, LCP, Opstal, D, Galjaard, Robert-Jan, Go, Attie, Obstetrics & Gynecology, and Clinical Genetics

Abstract

Objective To establish the prevalence of submicroscopic genetic copy number variants (CNVs) in fetuses with a structural ultrasound anomaly (restricted to one anatomical system) and a normal karyotype. The aim was to determine the diagnostic and prognostic value of genomic array testing in these pregnancies. Methods Embase and PubMed databases were systematically searched for all relevant articles on prevalence of pathogenic submicroscopic CNVs in fetuses with ultrasound anomalies. Reported cases were sorted into groups according to anatomical site of the detected ultrasound anomaly. The prevalence of causative submicroscopic CNVs was calculated for each group. Results Combined data of the reviewed studies (n=18) indicated that fetuses with an ultrasound anomaly restricted to one anatomical system (n=2220) had a 3.1-7.9% chance of carrying a causative submicroscopic CNV, depending on the anatomical system affected. This chance increased to 9.1% for fetuses with multiple ultrasound anomalies (n=1139). Conclusion This review indicates that 3.1-7.9% of fetuses with a structural ultrasound anomaly restricted to one anatomical system and a normal karyotype will show a submicroscopic CNV, which explains its phenotype and provides information for fetal prognosis. Therefore, we conclude that microarray has considerable diagnostic and prognostic value in these pregnancies. Copyright (C) 2013 ISUOG. Published by John Wiley & Sons Ltd.

Published
2014

45. Choosing between Higher and Lower Resolution Microarrays: do Pregnant Women Have Sufficient Knowledge to Make Informed Choices Consistent with their Attitude?

Author

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., and Riedijk, S. R.

Abstract

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 more clinically relevant anomalies, or at 5 Mb resolution. We investigated whether women had sufficient knowledge to make informed choices regarding the scope of their prenatal test that were consistent with their attitude. Pregnant women could choose between testing at 5 or at 0.5 Mb array. Consenting women (N = 69) received pre-test genetic counseling by phone and filled out the Measure of Informed Choice questionnaire designed for this study. Choices based on sufficient knowledge and consistent with attitude were considered informed. Sixty-two percent of the women made an adequately informed choice, based on sufficient knowledge and attitude-consistent with their choice of microarray resolution. Women who made an informed choice, opted for 0.5 Mb array resolution more often. There were no differences between women making adequately informed or less informed choices regarding level of experienced anxiety or doubts. Over time on T0 and T1, anxiety and doubts significantly decreased. While previous studies demonstrated that knowledge is an important component in informed decision-making, this study underlines that a consistent attitude might be equally important for decision-making. We advocate more focus on attitude-consistency and deliberation as compared to only a strong focus on knowledge. [ABSTRACT FROM AUTHOR]

Published
2018
Full Text
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47. Genomic SNP array as a gold standard for prenatal diagnosis of foetal ultrasound abnormalities

Author

Srebniak, Gosia, Boter, Marjan, Oudesluijs, Grietje, Overbeek, Titia, Govaerts, LCP, Diderich, Karin, Oegema, Renske, Knapen, Maarten, De Graaf - van de Laar, Ingrid, Joosten, Marieke, Opstal, D, Galjaard, Robert-Jan, Srebniak, Gosia, Boter, Marjan, Oudesluijs, Grietje, Overbeek, Titia, Govaerts, LCP, Diderich, Karin, Oegema, Renske, Knapen, Maarten, De Graaf - van de Laar, Ingrid, Joosten, Marieke, Opstal, D, and Galjaard, Robert-Jan

Abstract

Background: We have investigated whether replacing conventional karyotyping by SNP array analysis in cases of foetal ultrasound abnormalities would increase the diagnostic yield and speed of prenatal diagnosis in clinical practice. Findings/results: From May 2009 till June 2011 we performed HumanCytoSNP-12 array (HCS) (http://www.Illumina.com) analysis in 207 cases of foetal structural abnormalities. HCS allows detecting unbalanced genomic abnormalities with a resolution of about 150/200 kb. All cases were selected by a clinical geneticist after excluding the most common aneuploidies by RAD (rapid aneuploidy detection). Pre-test genetic counselling was offered in all cases. In 24/207 (11,6%) foetuses a clinically relevant Conclusions: Prenatal SNP array testing is faster than karyotyping and allows detecting much smaller aberrations (similar to 0.15 Mb) in addition to the microscopic unbalanced chromosome abnormalities detectable with karyotyping (similar to > 5 Mb). Since karyotyping would have missed 66% (16/24) of genomic abnormalities in our cohort, we propose to perform genomic high resolution array testing assisted by pre-test counselling as a primary prenatal diagnostic test in cases of foetal ultrasound a

Published
2012

48. FISH en vruchtwater

Author

van der Vloedt, WS, Wildschut, Hajo, Brandenburg, AH (Afke), Opstal, D, Galjaard, Robert-Jan, Los, FJ, Slager, E., Fauser, B.C.J.M., Gordts, S., Kenemans, P., Koninckx, P.R., van Geijn, H.P., Wildschut, H.I.J., Obstetrics & Gynecology, Virology, and Clinical Genetics

Published
2000

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