For example, the pregnancy of 16DG0393 was terminated because of the identification of a homozygous PKD1 pathogenic variant resulting in severe polycystic kidneys and posterior fossa abnormality consistent with the published literature, while the consanguineous asymptomatic parents were found in retrospect to have autosomal dominant polycystic kidney disease [30, 31]. The gene discussed is PKD1; the disease is autosomal dominant polycystic kidney disease.