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Sterol profiling of amniotic fluid: a routine method for the detection of distal cholesterol synthesis deficit
Author(s) -
Chevy F.,
Humbert L.,
Wolf C.
Publication year - 2005
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1254
Subject(s) - smith–lemli–opitz syndrome , desmosterol , lathosterol , sterol , amniotic fluid , cholesterol , amniocentesis , cholestanol , medicine , fetus , endocrinology , biology , prenatal diagnosis , reductase , biochemistry , pregnancy , 7 dehydrocholesterol reductase , enzyme , genetics , campesterol
Objectives Smith Lemli Opitz syndrome (SLOS) caused by a deficit of 3β‐hydroxysterol‐Δ7 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 In addition to cholesterol, the level of which varies as function of the gestational age, lathosterol is present together with trace amounts of 7‐ and 8‐dehydrocholesterol and other precursors such as desmosterol, lanosterol, and dimethylsterol. Phytosterols are also present in 70% of AF samples that have been tested. Besides SLOS, GC‐MS examination of amniotic fluid can detect various sterol deficits associated with malformations (lathosterolosis, desmosterolosis, X‐linked chondrodysplasia, and particular Antley‐Bixler syndrome). Practical conclusions support GC‐MS as a routine method to investigate skeletal and central nervous system malformations. Copyright © 2005 John Wiley & Sons, Ltd.