Sterol profiling of amniotic fluid: a routine method for the detection of distal cholesterol synthesis deficit
Prenatal Diagnosis2005Vol. 25(11), pp. 1000–1006
Citations Over TimeTop 22% of 2005 papers
Abstract
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.
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