Whole exome sequencing as a diagnostic adjunct to clinical testing in fetuses with structural abnormalities

What is it about?

Major structural malformations occur in 2% to 3% of all newborns and account for nearly 25% of perinatal deaths.However, for the majority of fetuses with structural malformations, the underlying causes of the anomalies remain unknown. Our study calculated a combined diagnostic yield of at least 50.4% for standard karyotyping, CMA and WES in a consecutive series of fetuses with structural abnormalities. This enhanced diagnostic yield could significantly improve the clinical management of pregnancies and better inform family planning efforts.

Featured Image