Inherited variants in autosomal dominant disease genes are a significant cause of fetal structural anomalies

Inherited variants in autosomal dominant disease genes are a significant contributor to fetal structural anomalies and may have implications for parents' own health as well as management of the current pregnancy and reproductive options. The requirements for genomic counselling, clinical assessment and genetic testing of parents and family members following an inherited finding must be taken into account when planning delivery of a prenatal sequencing service.