Abstract | OBJECTIVES:
Smith Lemli Opitz syndrome (SLOS) caused by a deficit of 3beta-hydroxysterol-Delta7 reductase was the first sterol deficit described with multiple malformations. The lack of specificity of many morphological abnormalities detected by ultrasound and their frequency have justified routine screening of amniotic fluid (AF) for sterols by GC-MS. The examination contributes to an improved knowledge of the sterol status in the fluid. METHODS: A series of sterol profiles is collated here. Accumulation of 7- and 8-dehydrocholesterol are diagnostic for SLOS. However, a number of other sterols have also been detected by GC-MS in control AF and their presence may be confusing. RESULTS AND CONCLUSIONS:
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Authors | F Chevy, L Humbert, C Wolf |
Journal | Prenatal diagnosis
(Prenat Diagn)
Vol. 25
Issue 11
Pg. 1000-6
(Nov 2005)
ISSN: 0197-3851 [Print] England |
PMID | 16231320
(Publication Type: Evaluation Study, Journal Article)
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Copyright | Copyright 2005 John Wiley & Sons, Ltd. |
Chemical References |
- Biomarkers
- Cholestadienols
- Dehydrocholesterols
- Sterols
- cholesta-5,8-dien-3 beta-ol
- Cholesterol
- 7-dehydrocholesterol
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Topics |
- Amniotic Fluid
(chemistry)
- Animals
- Biomarkers
(analysis)
- Cholestadienols
(analysis)
- Cholesterol
(analysis)
- Dehydrocholesterols
(analysis)
- Gas Chromatography-Mass Spectrometry
- Gestational Age
- Humans
- Prenatal Diagnosis
(methods)
- Rats
- Retrospective Studies
- Smith-Lemli-Opitz Syndrome
(diagnosis)
- Sterols
(analysis)
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