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https://hdl.handle.net/2440/7837
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DC Field | Value | Language |
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dc.contributor.author | Sharp, P. | - |
dc.contributor.author | Haan, E. | - |
dc.contributor.author | Fletcher, J. | - |
dc.contributor.author | Khong, T. | - |
dc.contributor.author | Carey, W. | - |
dc.date.issued | 1997 | - |
dc.identifier.citation | Prenatal Diagnosis, 1997; 17(4):355-361 | - |
dc.identifier.issn | 0197-3851 | - |
dc.identifier.issn | 1097-0223 | - |
dc.identifier.uri | http://hdl.handle.net/2440/7837 | - |
dc.description | Article first published online: 4 DEC 1998 | - |
dc.description.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. | - |
dc.description.statementofresponsibility | P. Sharp, E. Haan, J. M. Fletcher, T. Y. Khong AND W. F. Carey | - |
dc.language.iso | en | - |
dc.publisher | JOHN WILEY & SONS LTD | - |
dc.rights | Copyright © 1997 John Wiley & Sons, Ltd. | - |
dc.source.uri | http://dx.doi.org/10.1002/(sici)1097-0223(199704)17:4%3C355::aid-pd78%3E3.0.co;2-m | - |
dc.subject | prenatal diagnosis | - |
dc.subject | 7-dehydrocholesterol | - |
dc.subject | chorionic villus biopsy | - |
dc.subject | maternal/fetal cholesterol | - |
dc.title | First-trimester diagnosis of Smith-Lemli-Opitz syndrome | - |
dc.type | Journal article | - |
dc.identifier.doi | 10.1002/(SICI)1097-0223(199704)17:4<355::AID-PD78>3.0.CO;2-M | - |
pubs.publication-status | Published | - |
dc.identifier.orcid | Haan, E. [0000-0002-7310-5124] | - |
dc.identifier.orcid | Khong, T. [0000-0002-2404-007X] | - |
Appears in Collections: | Aurora harvest Paediatrics publications |
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