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. 2002 Sep;22(9):827-30.
doi: 10.1002/pd.419.

Molecular prenatal diagnosis of Smith-Lemli-Opitz syndrome is reliable and efficient

Judith Loeffler  1 , Gerd Utermann, Martina Witsch-Baumgartner
Affiliations

Molecular prenatal diagnosis of Smith-Lemli-Opitz syndrome is reliable and efficient

Judith Loeffler et al. Prenat Diagn. 2002 Sep.

Abstract

Smith-Lemli-Opitz (RSH) syndrome (SLOS, OMIM 270400) is a relatively common, autosomal recessive disorder of cholesterol biosynthesis with a broad spectrum of phenotypic abnormalities caused by mutations of the 7-dehydrocholesterol reductase gene (DHCR7) on chromosome 11. Prenatal diagnosis can be established by detection of elevated 7-dehydrocholesterol or of SLOS-causing mutations in the DHCR7 gene. We report here our experience with molecular prenatal diagnosis of SLOS. Mutation analysis of the DHCR7 gene was performed in chorionic villus samples of 13 pregnancies of couples with a family history of SLOS and known SLOS genotypes. This approach is accurate and reliable. If facilities for biochemical analysis are not available, or in cases with ambiguous biochemical patterns, molecular prenatal diagnosis is an attractive, alternative option.

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