Prenatal diagnosis of Smith‐Lemli‐Opitz syndrome (SLOS) by DHCR7 mutation analysis

OBJECTIVES: We review our experience using mutation analysis of the DHCR7 gene for prenatal diagnosis of Smith-Lemli-Opitz syndrome (SLOS), an autosomal recessive disorder of endogenous cholesterol biosynthesis caused by deficiency of 7-dehydrocholesterol reductase (DHCR7). METHODS AND RESULTS: Prenatal diagnosis of SLOS was conducted for 21 pregnancies involving 15 families. DNA was isolated directly from amniotic fluid cells or chorionic …