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

Author

van Prooyen Schuurman, Lisanne, Sistermans, Erik A., Van Opstal, Diane, Henneman, Lidewij, Bekker, Mireille N., Bax, Caroline J., Pieters, Mijntje J., Bouman, Katelijne, de Munnik, Sonja, den Hollander, Nicolette S., Diderich, Karin E.M., Faas, Brigitte H.W., Feenstra, Ilse, Go, Attie T.J.I., Hoffer, Mariëtte J.V., Joosten, Marieke, Komdeur, Fenne L., Lichtenbelt, Klaske D., Lombardi, Maria P., and Polak, Marike G.

Subjects
*TRISOMY, *PRENATAL diagnosis, *DNA copy number variations, *CHROMOSOME abnormalities, *MEDICAL screening, *BIRTH weight
Abstract

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. [ABSTRACT FROM AUTHOR]

Published
2022
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2. TRIDENT-2: National Implementation of Genome-wide Non-invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands.

Author

van der Meij, Karuna R.M., Sistermans, Erik A., Macville, Merryn V.E., Stevens, Servi J.C., Bax, Caroline J., Bekker, Mireille N., Bilardo, Caterina M., Boon, Elles M.J., Boter, Marjan, Diderich, Karin E.M., de Die-Smulders, Christine E.M., Duin, Leonie K., Faas, Brigitte H.W., Feenstra, Ilse, Haak, Monique C., Hoffer, Mariëtte J.V., den Hollander, Nicolette S., Hollink, Iris H.I.M., Jehee, Fernanda S., and Knapen, Maarten F.C.M.

Subjects
*PRENATAL diagnosis, *CHROMOSOME abnormalities, *PRENATAL care, *DOWN syndrome, *PREGNANT women
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. [ABSTRACT FROM AUTHOR]

Published
2019
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3. 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

4. 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

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

Author

The Dutch NIPT Consortium

Subjects
genome-wide, fetal trisomy, NIPS, common trisomies, implementation study, prenatal screening, Genetics, Journal Article, first tier test, Genetics(clinical), cfDNA, NIPT, rare autosomal trisomies
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

6. Der Stellenwert der 'array comparative genomic hybridization' in der Pränataldiagnostik.

Author

Held, K.R., Kähler, C., Kerber, S., and Auber, B.

Abstract

Copyright of Medizinische Genetik is the property of De Gruyter and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Published
2012
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