| Prenatal diagnosis of the RSH/Smith-Lemli-Opitz syndrome. | |
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MedLine Citation:
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PMID: 10069707 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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The RSH/Smith-Lemli-Opitz syndrome (RSH/SLOS) is a relatively common, autosomal recessive malformation syndrome comprising distinctive facial, limb and genital anomalies, and mental retardation. Most patients with a clinical diagnosis of RSH/SLOS have a defect of cholesterol biosynthesis at the level of 3beta-hydroxysteroid-delta7-reductase, resulting in a decreased level of cholesterol and an increased level of 7-dehydrocholesterol (7DHC) in body fluids and tissues. We report on our experience with the prenatal diagnosis of RSH/SLOS by quantitative sterol chromatography in amniotic fluid (AF) and chorionic villus (CV). Of 76 AF and nine CV samples analyzed for various indications, 20 were diagnostic of RSH/SLOS based on an increased level of 7DHC in the fluid or tissue. Of 39 fetuses at a 25% risk for RSH/SLOS, 10(25.6%) were affected. Twenty-nine pregnancies not known to be at risk for RSH/SLOS were studied because of either a fetal abnormality characteristic of RSH/SLOS detected by ultrasound, a low maternal serum uE3 level (MSuE3), or both. None of the pregnancies tested, because of a low MSuE3 but lacking a sonographic abnormality characteristic of RSH/SLOS, was affected. However, three of four pregnancies with a low MSuE3 and an RSH/SLOS-type fetal abnormality were positive. RSH/ SLOS was diagnosed in two additional pregnancies on which MSuE3 data were not available but in which fetal anomalies were identified. Of these five RSH/SLOS fetuses identified in pregnancies not otherwise at risk for RSH/SLOS, the presenting sonographic anomaly was either polydactyly, ambiguous genitalia, or both. Evaluation of the biochemical parameters and clinical severity of RSH/SLOS showed that there was an inverse correlation between clinical severity and both the level of AF 7DHC and the level of MSuE3. Based on these earlier and more extensive studies, we conclude that accurate prenatal diagnosis of RSH/ SLOS is possible by sterol analysis of AF and, most likely, CV specimens as well. Furthermore, our findings suggest that MSuE3 levels in combination with sonography may provide useful diagnostic and prognostic information in the absence of a family history of RSH/SLOS. |
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Authors:
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L E Kratz; R I Kelley |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: American journal of medical genetics Volume: 82 ISSN: 0148-7299 ISO Abbreviation: Am. J. Med. Genet. Publication Date: 1999 Feb |
Date Detail:
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Created Date: 1999-05-17 Completed Date: 1999-05-17 Revised Date: 2004-11-17 |
Medline Journal Info:
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Nlm Unique ID: 7708900 Medline TA: Am J Med Genet Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 376-81 Citation Subset: IM |
Affiliation:
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Kennedy Krieger Institute and Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Amniotic Fluid
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metabolism Cholesterol / biosynthesis Chorionic Villi / metabolism Dehydrocholesterols / metabolism Estriol / metabolism Female Humans Models, Biological Pregnancy Prenatal Diagnosis / methods* Risk Factors Smith-Lemli-Opitz Syndrome / diagnosis*, genetics Ultrasonography |
| Chemical | |
Reg. No./Substance:
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0/Dehydrocholesterols; 434-16-2/7-dehydrocholesterol; 50-27-1/Estriol; 57-88-5/Cholesterol |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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