Abstract |
The Smith-Lemli-Opitz syndrome, characterized by limb, face and organ abnormalities, and mental retardation, is caused by an inherited block in the step of cholesterol biosynthesis in which the delta 7 double bond of 7-dehydrocholesterol is reduced. It is diagnosed by the presence of markedly elevated levels of 7-dehydrocholesterol and 8-dehydrocholesterol in plasma and tissue. We measured amniotic fluid sterols in 15 pregnancies in 13 women who had previously carried an affected fetus. Cholesterol, 7-dehydrocholesterol and 8-dehydrocholesterol concentrations averaged 18 +/- 3, 9.8 +/- 2.9 and 5.0 +/- 1.7 micrograms/ml, respectively, in seven pregnancies with an affected fetus or child. In contrast, these levels were 19 +/- 3, 0.05 +/- 0.01 and < 0.005 micrograms/ml, respectively, in eight increased-risk pregnancies with normal outcomes and 16 +/- 2, 0.07 +/- 0.01 and < 0.005 micrograms/ml in normal controls. 7-dehydrocholesterol concentrations, 2.2-26 and 0.05-0.10 micrograms/ml in pregnancies with an affected and unaffected fetus, respectively, did not overlap. Thus, abnormally elevated amniotic fluid dehydrocholesterol concentrations are an accurate predictor of fetal Smith-Lemli-Opitz syndrome. A false-positive or a false-negative result is highly unlikely.
|
Authors | G S Tint, D Abuelo, M Till, M P Cordier, A K Batta, S Shefer, A Honda, M Honda, G Xu, M Irons, E R Elias, G Salen |
Journal | Prenatal diagnosis
(Prenat Diagn)
Vol. 18
Issue 7
Pg. 651-8
(Jul 1998)
ISSN: 0197-3851 [Print] England |
PMID | 9706645
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, Non-P.H.S., Research Support, U.S. Gov't, P.H.S.)
|
Chemical References |
- Cholestadienols
- Dehydrocholesterols
- cholesta-5,8-dien-3 beta-ol
- Cholesterol
- 7-dehydrocholesterol
|
Topics |
- Adult
- Amniocentesis
- Amniotic Fluid
(chemistry)
- Cholestadienols
(analysis)
- Cholesterol
(analysis)
- Dehydrocholesterols
(analysis)
- Female
- Gas Chromatography-Mass Spectrometry
- Gestational Age
- Humans
- Pregnancy
- Pregnancy Outcome
- Reference Values
- Smith-Lemli-Opitz Syndrome
(diagnosis)
|