Prenatal diagnosis of <i>de novo</i> deletions of 8p23.1 or 15q26.1 in two fetuses with diaphragmatic hernia and congenital heart defects

Abstract

These cases support the evidence that the regions 15q26.1 and 8p23.1 may play an important role in the development of the diaphragm. A deletion 8p23.1 or 15q26.1 should be considered whenever a CDH and/or a cardiac abnormality are detected on ultrasound.