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. 2021 Jun;23(6):1137-1142.
doi: 10.1038/s41436-021-01101-4. Epub 2021 Feb 9.

Outcome of publicly funded nationwide first-tier noninvasive prenatal screening

Kris Van Den Bogaert  1 , Lore Lannoo  2 , Nathalie Brison  1 , Vincent Gatinois  1 , Machteld Baetens  3 , Bettina Blaumeiser  4   5 , François Boemer  6 , Laura Bourlard  7 , Vincent Bours  6 , Anne De Leener  8 , Marjan De Rademaeker  5 , Julie Désir  7   9 , Annelies Dheedene  3 , Armelle Duquenne  8 , Nathalie Fieremans  10 , Annelies Fieuw  10 , Jean-Stéphane Gatot  6 , Bernard Grisart  9 , Katrien Janssens  4 , Sandra Janssens  3 , Damien Lederer  9 , Axel Marichal  9 , Björn Menten  3 , Colombine Meunier  9 , Leonor Palmeira  6 , Bruno Pichon  7 , Eva Sammels  10 , Guillaume Smits  7 , Yves Sznajer  8 , Elise Vantroys  10 , Koenraad Devriendt  1 , Joris Robert Vermeesch  11
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Free article

Outcome of publicly funded nationwide first-tier noninvasive prenatal screening

Kris Van Den Bogaert et al. Genet Med. 2021 Jun.
Free article

Abstract

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.

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