
To determine the perinatal outcomes of fetuses diagnosed with a pathogenic copy number variant (CNV) or variant of uncertain significance (VUS) and to characterize these variants in terms of testing indication, genomic location, size, and inheritance. In addition, probabilistic record linkage between the prenatal diagnosis dataset and perinatal outcome data for births from 20 weeks gestation was performed. If no birth record was found, this implied a pregnancy loss < 20 weeks. The most common microdeletion syndromes were DiGeorge, Wolf‐Hirschhorn, and Cri‐du‐chat syndromes. This study provides an overview of perinatal outcomes and the frequency of recurrent CNVs observed in the prenatal microarray era.
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