Please use this identifier to cite or link to this item: https://hdl.handle.net/2440/7837
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dc.contributor.authorSharp, P.-
dc.contributor.authorHaan, E.-
dc.contributor.authorFletcher, J.-
dc.contributor.authorKhong, T.-
dc.contributor.authorCarey, W.-
dc.date.issued1997-
dc.identifier.citationPrenatal Diagnosis, 1997; 17(4):355-361-
dc.identifier.issn0197-3851-
dc.identifier.issn1097-0223-
dc.identifier.urihttp://hdl.handle.net/2440/7837-
dc.descriptionArticle first published online: 4 DEC 1998-
dc.description.abstractWe 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.-
dc.description.statementofresponsibilityP. Sharp, E. Haan, J. M. Fletcher, T. Y. Khong AND W. F. Carey-
dc.language.isoen-
dc.publisherJOHN WILEY & SONS LTD-
dc.rightsCopyright © 1997 John Wiley & Sons, Ltd.-
dc.source.urihttp://dx.doi.org/10.1002/(sici)1097-0223(199704)17:4%3C355::aid-pd78%3E3.0.co;2-m-
dc.subjectprenatal diagnosis-
dc.subject7-dehydrocholesterol-
dc.subjectchorionic villus biopsy-
dc.subjectmaternal/fetal cholesterol-
dc.titleFirst-trimester diagnosis of Smith-Lemli-Opitz syndrome-
dc.typeJournal article-
dc.identifier.doi10.1002/(SICI)1097-0223(199704)17:4<355::AID-PD78>3.0.CO;2-M-
pubs.publication-statusPublished-
dc.identifier.orcidHaan, E. [0000-0002-7310-5124]-
dc.identifier.orcidKhong, T. [0000-0002-2404-007X]-
Appears in Collections:Aurora harvest
Paediatrics publications

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