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

Aneuploidy; Chromosome Disorders/diagnosis/epidemiology/genetics; Down Syndrome/diagnosis/epidemiology/genetics; Female; Humans; Noninvasive Prenatal Testing; Pregnancy; Prenatal Diagnosis; Trisomy

Abstract :

[en] 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.

Disciplines :

Genetics & genetic processes

Author, co-author :

Van Den Bogaert, Kris

Lannoo, Lore

Brison, Nathalie

Gatinois, Vincent

Baetens, Machteld

Blaumeiser, Bettina

BOEMER, François ; Centre Hospitalier Universitaire de Liège - CHU > Unilab > Laboratoire Biochimie Génétique

Bourlard, Laura

Bours, Vincent ; Université de Liège - ULiège > Département des sciences biomédicales et précliniques > Génétique humaine

De Leener, Anne

More authors (22 more)

Language :

English

Title :

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

Publication date :

2021

Journal title :

Genetics in Medicine

ISSN :

1098-3600

eISSN :

1530-0366

Volume :

Issue :

Pages :

1137-1142

Peer reviewed :

Peer Reviewed verified by ORBi

Available on ORBi :

since 12 October 2021

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