Outcome of publicly funded nationwide first-tier noninvasive prenatal screening.

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.

• Authors: Kris Van Den Bogaert, Lore Lannoo, Nathalie Brison, Vincent Gatinois, Machteld Baetens, Bettina Blaumeiser, François Boemer, Laura Bourlard, Vincent Bours, Anne De Leener, Marjan De Rademaeker, Julie Désir, Annelies Dheedene, Armelle Duquenne, Nathalie Fieremans, Annelies Fieuw, Jean-Stéphane Gatot, Bernard Grisart, Katrien Janssens, Sandra Janssens, Damien Lederer, Axel Marichal, Björn Menten, Colombine Meunier, Leonor Palmeira, Bruno Pichon, Eva Sammels, Guillaume Smits, Yves Sznajer, Elise Vantroys, Koenraad Devriendt, Joris Robert Vermeesch
• Journal: Genetics in medicine : official journal of the American College of Medical Genetics (Genet Med) Vol. 23 Issue 6 Pg. 1137-1142 (06 2021) ISSN: 1530-0366 [Electronic] United States
• PMID: 33564150 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Topics

• Aneuploidy
• Chromosome Disorders (diagnosis, epidemiology, genetics)
• Down Syndrome (diagnosis, epidemiology, genetics)
• Female
• Humans
• Noninvasive Prenatal Testing
• Pregnancy
• Prenatal Diagnosis
• Trisomy