Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/7837
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Type: Journal article
Title: First-trimester diagnosis of Smith-Lemli-Opitz syndrome
Author: Sharp, P.
Haan, E.
Fletcher, J.
Khong, T.
Carey, W.
Citation: Prenatal Diagnosis, 1997; 17(4):355-361
Publisher: JOHN WILEY & SONS LTD
Issue Date: 1997
ISSN: 0197-3851
1097-0223
Statement of
Responsibility: 
P. Sharp, E. Haan, J. M. Fletcher, T. Y. Khong AND W. F. Carey
Abstract: We report here the prenatal diagnosis of Smith-Lemli-Opitz (SLO) syndrome in the first trimester by direct measurement of 7-dehydrocholesterol (7-DHC) in a chorionic villus (CV) biopsy. The proband was diagnosed clinically at birth and the diagnosis was confirmed biochemically by demonstrating elevated 7-DHC in plasma. The family pursued prenatal diagnosis in their fourth, fifth, and sixth pregnancies. The fourth pregnancy spontaneously miscarried at 9 weeks' gestation. Analysis in both direct and cultured curetting tissue (identified as similar to CV tissue) showed an abnormal tissue neutral sterol pattern with an elevated 7-DHC concentration. The fifth pregnancy also miscarried spontaneously at 9 weeks but no tissue of unequivocal fetal origin could be identified to allow biochemical investigation. In the sixth pregnancy, ultrasound examination at the time of CV sampling showed a thickened nuchal fold. Direct analysis of the CV sample revealed elevated levels of 7-DHC consistent with the diagnosis of SLO. The pregnancy was terminated and both fetal tissue and cultured fetal cells showed marked increases in 7-DHC, confirming the prenatal diagnosis.
Keywords: prenatal diagnosis; 7-dehydrocholesterol; chorionic villus biopsy; maternal/fetal cholesterol
Description: Article first published online: 4 DEC 1998
Rights: Copyright © 1997 John Wiley & Sons, Ltd.
RMID: 0030005384
DOI: 10.1002/(SICI)1097-0223(199704)17:4<355::AID-PD78>3.0.CO;2-M
Appears in Collections:Paediatrics publications

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