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https://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. |
DOI: | 10.1002/(SICI)1097-0223(199704)17:4<355::AID-PD78>3.0.CO;2-M |
Published version: | http://dx.doi.org/10.1002/(sici)1097-0223(199704)17:4%3C355::aid-pd78%3E3.0.co;2-m |
Appears in Collections: | Aurora harvest Paediatrics publications |
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