Outcome of publicly funded nationwide first-tier noninvasive prenatal screening

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

doi:10.1038/s41436-021-01101-4

Retour

Outcome of publicly funded nationwide first-tier noninvasive prenatal screening

Article de revue

Avec comité de lecture

Outcome of publicly funded nationwide first-tier noninvasive prenatal screening

Kris Van Den Bogaert, Lore Lannoo, Nathalie Brison, Vincent Gatinois, Machteld Baetens, Bettina Blaumeiser, François Boemer, Laura Bourlard, Vincent Bours, Anne De Leener, …

Genetics in medicine, Vol.23(6), pp.1137-1142

01/06/2021

DOI: https://doi.org/10.1038/s41436-021-01101-4

PMID: 33564150

Résumé

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. 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. 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%. 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.

Indicateurs

1 Consultations de la notice

See more details

Détails

Titre: Outcome of publicly funded nationwide first-tier noninvasive prenatal screening
Créateurs - sans rôle: Kris Van Den Bogaert - Center for Human Genetics, University Hospitals Leuven–KU Leuven, Leuven, Belgium
Lore Lannoo - Department of Obstetrics and Gynaecology, University Hospitals Leuven, Leuven, Belgium
Nathalie Brison - Center for Human Genetics, University Hospitals Leuven–KU Leuven, Leuven, Belgium
Vincent Gatinois - Center for Human Genetics, University Hospitals Leuven–KU Leuven, Leuven, Belgium
Machteld Baetens - Center for Medical Genetics, University Hospital Ghent, Ghent, Belgium
Bettina Blaumeiser - Center for Medical Genetics, Universiteit Antwerpen, Antwerp, Belgium
François Boemer - Center for Medical Genetics, Centre Hospitalier Universitaire de Liège, Liège, Belgium
Laura Bourlard - Center for Human Genetics, Université Libre de Bruxelles, Brussels, Belgium
Vincent Bours - Center for Medical Genetics, Centre Hospitalier Universitaire de Liège, Liège, Belgium
Anne De Leener - Center for Human Genetics, Université Catholique de Louvain, Brussels, Belgium
Marjan De Rademaeker - Center for Medical Genetics, University Hospital Antwerp, Edegem, Belgium
Julie Désir - Université Libre de Bruxelles
Annelies Dheedene - Center for Medical Genetics, University Hospital Ghent, Ghent, Belgium
Armelle Duquenne - Center for Human Genetics, Université Catholique de Louvain, Brussels, Belgium
Nathalie Fieremans - Center for Medical Genetics, Vrije Universiteit Brussel, Brussels, Belgium
Annelies Fieuw - Center for Medical Genetics, Vrije Universiteit Brussel, Brussels, Belgium
Jean-Stéphane Gatot - Center for Medical Genetics, Centre Hospitalier Universitaire de Liège, Liège, Belgium
Bernard Grisart - Center for Medical Genetics, Institut de Pathologie et de Génétique Gosselies, Charleroi, Belgium
Katrien Janssens - Center for Medical Genetics, Universiteit Antwerpen, Antwerp, Belgium
Sandra Janssens - Center for Medical Genetics, University Hospital Ghent, Ghent, Belgium
Damien Lederer - Center for Medical Genetics, Institut de Pathologie et de Génétique Gosselies, Charleroi, Belgium
Axel Marichal - Center for Medical Genetics, Institut de Pathologie et de Génétique Gosselies, Charleroi, Belgium
Björn Menten - Center for Medical Genetics, University Hospital Ghent, Ghent, Belgium
Colombine Meunier - Center for Medical Genetics, Institut de Pathologie et de Génétique Gosselies, Charleroi, Belgium
Leonor Palmeira - Center for Medical Genetics, Centre Hospitalier Universitaire de Liège, Liège, Belgium
Bruno Pichon - Center for Human Genetics, Université Libre de Bruxelles, Brussels, Belgium
Eva Sammels - Center for Medical Genetics, Vrije Universiteit Brussel, Brussels, Belgium
Guillaume Smits - Université Libre de Bruxelles
Yves Sznajer - UCLouvain
Elise Vantroys - Center for Medical Genetics, Vrije Universiteit Brussel, Brussels, Belgium
Koenraad Devriendt - Center for Human Genetics, University Hospitals Leuven–KU Leuven, Leuven, Belgium
Joris Robert Vermeesch - Center for Human Genetics, University Hospitals Leuven–KU Leuven, Leuven, Belgium
Détails de publication: Genetics in medicine, Vol.23(6), pp.1137-1142
Éditeur: Elsevier Inc
Nombre de pages: 6
Identifiants: 99141211509311
Unité académique: Cell souches plasticité cellul régénérat tissulaire immuno des maladies inflamm - IRMB
Langue: English
Type de ressource: Journal article