The Belgian MicroArray Prenatal (BEMAPRE) database: A systematic nationwide repository of fetal genomic aberrations.
Обработка статьи · этапы, ошибки и управление
Ошибки и ограничения
История · было → стало
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Muys Joke, Blaumeiser Bettina, Jacquemyn Yves, Bandelier Claude, Brison Nathalie, Bulk Saskia, Chiarappa Patrizia, Courtens Winnie, De Leener Anne, De Rademaeker Marjan, Désir Julie, Destrée Anne, Devriendt Koenraad, Dheedene Annelies, Fieuw Annelies, Fransen Erik, Gatot Jean-Stéphane, Holmgren Philip, Jamar Mauricette, Janssens Sandra, Keymolen Kathelijn, Lederer Damien, Menten Björn, Meuwissen Marije, Parmentier Benoit, Pichon Bruno, Rombout Sonia, Sznajer Yves, Van Den Bogaert Ann, Van Den Bogaert Kris, Vanakker Olivier, Vermeesch Joris, Janssens Katrien
Аннотация
METHODS: The Belgian MicroArray Prenatal (BEMAPRE) consortium is a collaboration of all genetic centers in Belgium. We collected data from all invasive prenatal procedures performed between May 2013 and July 2016.
RESULTS: In this three-year period, 13 266 prenatal CMAs were performed. By national agreement, a limited number of susceptibility CNVs and no variants of uncertain significance were reported. Added values for using CMA versus conventional karyotyping were 1.8% in the general invasive population and 2.7% in cases with an ultrasound anomaly. Of the reported CNVs, 31.5% would have remained undetected with non-invasive prenatal test as the first-tier test.
CONCLUSION: The establishment of a national database for prenatal CNV data allows for a uniform reporting policy and the investigation of the prenatal and postnatal genotype-phenotype correlation.