Difficult prenatal diagnosis in mild Smith-Lemli-Opitz syndrome.

摘要: Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder of cholesterol biosynthesis caused by mutations the 7-dehydrocholesterol (7DHC) reductase gene (DHCR7). We present our experience with prenatal diagnosis affected fetus a very mild form SLOS. The mother underwent chorionic villus (CV) sampling at 11 2/7 weeks because having two prior sons 7DHC/total-sterol ratio in was higher than normal control fetuses but lower observed CV three other whom SLOS diagnosed prenatally. pregnancy terminated 13 weeks. level 7DHC amniotic fluid (AF) obtained time termination unequivocally elevated, confirming This report illustrates difficulties interpretation biochemical based on determination sample case SLOS, whereas testing clearly manifests defects as early gestation.