Difficult prenatal diagnosis in mild Smith‐Lemli‐Opitz syndrome

Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder of cholesterol biosynthesis caused by mutations of the 7-dehydrocholesterol (7DHC) reductase gene (DHCR7). We present our experience with prenatal diagnosis of an affected fetus with a very mild form of SLOS. The mother underwent prenatal diagnosis by chorionic villus (CV) sampling at 11 2/7 weeks because of having two prior affected sons with SLOS. The 7DHC/total-sterol ratio …