Outcome of publicly funded nationwide first-tier noninvasive prenatal screening
| العنوان: | Outcome of publicly funded nationwide first-tier noninvasive prenatal screening |
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| المؤلفون: | Leonor Palmeira, Lore Lannoo, Anne De Leener, Eva Sammels, Julie Désir, Nathalie Brison, Guillaume Smits, Vincent Bours, Annelies Dheedene, Annelies Fieuw, Kris Van Den Bogaert, Marjan De Rademaeker, Elise Vantroys, Jean-Stéphane Gatot, Laura Bourlard, Vincent Gatinois, Colombine Meunier, Koenraad Devriendt, Armelle Duquenne, François Boemer, Bettina Blaumeiser, Axel Marichal, Katrien Janssens, Joris Vermeesch, Nathalie Fieremans, Bruno Pichon, Yves Sznajer, Björn Menten, Sandra Janssens, Bernard Grisart, Machteld Baetens, Damien Lederer |
| المساهمون: | UCL - SSS/IREC/SLUC - Pôle St.-Luc, UCL - (SLuc) Centre de génétique médicale UCL |
| المصدر: | Genetics in medicine Genetics in medicine, Vol. 23, no.6, p. 1137-1142 (2021) |
| بيانات النشر: | Elsevier BV, 2021. |
| سنة النشر: | 2021 |
| مصطلحات موضوعية: | 0301 basic medicine, Down syndrome, medicine.medical_specialty, Noninvasive Prenatal Testing, Population, MEDLINE, Chromosome Disorders, Trisomy, Prenatal care, 030105 genetics & heredity, 03 medical and health sciences, Pregnancy, Prenatal Diagnosis, medicine, Humans, Genomic medicine, education, Genetics (clinical), education.field_of_study, business.industry, Obstetrics, Incidence (epidemiology), Aneuploidy, medicine.disease, 030104 developmental biology, Prenatal screening, Female, Human medicine, Down Syndrome, business |
| الوصف: | Purpose Noninvasive prenatal screening (NIPS) using cell-free DNA has transformed prenatal care. Belgium was the first country to implement and fully reimburse NIPS as a first-tier screening test offered to all pregnant women. A consortium consisting of all Belgian genetic centers report the outcome of two years genome-wide NIPS implementation. Methods The performance for the common trisomies and for secondary findings was evaluated based on 153,575 genome-wide NIP tests. Furthermore, the evolution of the number of invasive tests and the incidence of Down syndrome live births was registered. Results Trisomies 21, 18, and 13 were detected in respectively 0.32%, 0.07%, and 0.06% of cases, with overall positive predictive values (PPVs) of 92.4%, 84.6%, and 43.9%. Rare autosomal trisomies and fetal segmental imbalances were detected in respectively 0.23% and 0.07% of cases with PPVs of 4.1% and 47%. The number of invasive obstetric procedures decreased by 52%. The number of trisomy 21 live births dropped to 0.04%. Conclusion Expanding the scope of NIPS beyond trisomy 21 fetal screening allows the implementation of personalized genomic medicine for the obstetric population. This genome-wide NIPS approach has been embedded successfully in prenatal genetic care in Belgium and might serve as a framework for other countries offering NIPS. |
| تدمد: | 1098-3600 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a4160c358ba3304c89c54ddec000e7f8Test https://doi.org/10.1038/s41436-021-01101-4Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....a4160c358ba3304c89c54ddec000e7f8 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 10983600 |
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