Reference : Outcome of publicly funded nationwide first-tier noninvasive prenatal screening.
Scientific journals : Article
Life sciences : Genetics & genetic processes
http://hdl.handle.net/2268/264215
Outcome of publicly funded nationwide first-tier noninvasive prenatal screening.
English
Van Den Bogaert, Kris [> >]
Lannoo, Lore [> >]
Brison, Nathalie [> >]
Gatinois, Vincent [> >]
Baetens, Machteld [> >]
Blaumeiser, Bettina [> >]
BOEMER, François mailto [Centre Hospitalier Universitaire de Liège - CHU > Unilab > Laboratoire Biochimie Génétique >]
Bourlard, Laura [> >]
Bours, Vincent mailto [Université de Liège - ULiège > Département des sciences biomédicales et précliniques > Génétique humaine >]
De Leener, Anne [> >]
De Rademaeker, Marjan [> >]
Désir, Julie [> >]
Dheedene, Annelies [> >]
Duquenne, Armelle [> >]
Fieremans, Nathalie [> >]
Fieuw, Annelies [> >]
GATOT, Jean-Stéphane mailto [Centre Hospitalier Universitaire de Liège - CHU > Unilab > Laboratoire Cytogénétique >]
Grisart, Bernard [> >]
Janssens, Katrien [> >]
Janssens, Sandra [> >]
Lederer, Damien [> >]
Marichal, Axel [> >]
Menten, Björn [> >]
Meunier, Colombine [> >]
PALMEIRA, Léonor mailto [Centre Hospitalier Universitaire de Liège - CHU > Unilab > Service de génétique >]
Pichon, Bruno [> >]
Sammels, Eva [> >]
Smits, Guillaume [> >]
Sznajer, Yves [> >]
Vantroys, Elise [> >]
Devriendt, Koenraad [> >]
Vermeesch, Joris Robert [> >]
2021
Genetics in medicine : official journal of the American College of Medical Genetics
23
6
1137-1142
Yes (verified by ORBi)
1098-3600
1530-0366
United States
[en] Aneuploidy ; Chromosome Disorders/diagnosis/epidemiology/genetics ; Down Syndrome/diagnosis/epidemiology/genetics ; Female ; Humans ; Noninvasive Prenatal Testing ; Pregnancy ; Prenatal Diagnosis ; Trisomy
[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.
http://hdl.handle.net/2268/264215

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