Outcome of publicly funded nationwide first-tier noninvasive prenatal screening.
Обработка статьи · этапы, ошибки и управление
Ошибки и ограничения
История · было → стало
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Van Den Bogaert Kris, Lannoo Lore, Brison Nathalie, Gatinois Vincent, Baetens Machteld, Blaumeiser Bettina, Boemer François, Bourlard Laura, Bours Vincent, De Leener Anne, De Rademaeker Marjan, Désir Julie, Dheedene Annelies, Duquenne Armelle, Fieremans Nathalie, Fieuw Annelies, Gatot Jean-Stéphane, Grisart Bernard, Janssens Katrien, Janssens Sandra, Lederer Damien, Marichal Axel, Menten Björn, Meunier Colombine, Palmeira Leonor, Pichon Bruno, Sammels Eva, Smits Guillaume, Sznajer Yves, Vantroys Elise, Devriendt Koenraad, Vermeesch Joris Robert
Аннотация
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.