Abstract
PurposeCongenital heart defects (CHD) are associated with geneticsyndromes. Rapid aneuploidy testing and chromosome microarray analysis (CMA) arestandard care in fetal CHD. Many genetic syndromes remain undetected with thesetests. This cohort study aims to estimate the frequency of causal geneticvariants, in particular structural chromosome abnormalities and sequencevariants, in fetuses with severe CHD at mid-gestation, to aid prenatalcounselling.MethodsFetuses with severe CHD were extracted from the PRECOR registry(2012–2016). We evaluated pre- and postnatal genetic testing resultsretrospectively to estimate the frequency of genetic diagnoses in general, aswell as for specific CHDs.Results919 fetuses with severe CHD were identified. After exclusion of 211cases with aneuploidy, a genetic diagnosis was found in 15.7% (111/708). Thesecomprised copy number variants in 9.9% (70/708). In 4.5% (41/708) sequencevariants were found that would have remained undetected with CMA. Interruptedaortic arch, pulmonary atresia with ventricular septal defect andatrioventricular septal defect were most commonly associated with a geneticdiagnosis.ConclusionIn case of normal CMA results, parents should be offered exomesequencing sequentially, if time allows for it, especially if the CHD isaccompanied by other structural malformations due to the large variety ingenetic syndromes.
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