TY - JOUR
T1 - Outcome of publicly funded nationwide first-tier noninvasive prenatal screening
AU - Van Den Bogaert, Kris
AU - Lannoo, Lore
AU - Brison, Nathalie
AU - Gatinois, Vincent
AU - Baetens, Machteld
AU - Blaumeiser, Bettina
AU - Boemer, François
AU - Bourlard, Laura
AU - Bours, Vincent
AU - De Leener, Anne
AU - Désir, Julie
AU - Dheedene, Annelies
AU - Duquenne, Armelle
AU - Fieremans, Nathalie
AU - Fieuw, Annelies
AU - Gatot, Jean-Stéphane
AU - Grisart, Bernard
AU - Janssens, Sandra
AU - Lederer, Damien
AU - Marichal, Axel
AU - Menten, Björn
AU - Meunier, Colombine
AU - Palmeira, Leonor
AU - Pichon, Bruno
AU - Sammels, Eva
AU - Smits, Guillaume
AU - Sznajer, Yves
AU - Vantroys, Elise
AU - Devriendt, Koenraad
AU - Vermeesch, Joris Robert
PY - 2021/6
Y1 - 2021/6
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=85100730712&partnerID=8YFLogxK
U2 - 10.1038/s41436-021-01101-4
DO - 10.1038/s41436-021-01101-4
M3 - Article
C2 - 33564150
SN - 1098-3600
VL - 23
SP - 1137
EP - 1142
JO - Genetics in Medicine : Official Journal of the American College of Medical Genetics
JF - Genetics in Medicine : Official Journal of the American College of Medical Genetics
IS - 6
ER -