The prevalence of genetic diagnoses in fetuses with severe congenital heart defects.
作者： Amber E. L. van Nisselrooij , Malou A. Lugthart , Sally-Ann Clur , Ingeborg H. Linskens , Eva Pajkrt
DOI: 10.1038/S41436-020-0791-8
关键词:
摘要: Congenital heart defects (CHD) are associated with genetic syndromes. Rapid aneuploidy testing and chromosome microarray analysis (CMA) are standard care in fetal CHD. Many genetic syndromes remain undetected these tests. This cohort study aims to estimate the frequency of causal genetic variants, particular structural abnormalities sequence variants, fetuses severe CHD at mid-gestation, aid prenatal counselling. Fetuses were extracted from PRECOR registry (2012–2016). We evaluated pre- postnatal results retrospectively diagnoses general, as well as for specific CHDs. 919 identified. After exclusion 211 cases aneuploidy, a diagnosis was found 15.7% (111/708). These comprised copy number variants 9.9% (70/708). In 4.5% (41/708) sequence variants that would have remained CMA. Interrupted aortic arch, pulmonary atresia ventricular septal defect and atrioventricular most commonly genetic diagnosis. case normal CMA results, parents should be offered exome sequencing sequentially, if time allows it, especially is accompanied by other malformations due large variety in genetic syndromes.
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