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|Title:||First-trimester diagnosis of Smith-Lemli-Opitz syndrome|
|Citation:||Prenatal Diagnosis, 1997; 17(4):355-361|
|Publisher:||JOHN WILEY & SONS LTD|
|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.|
|Appears in Collections:||Paediatrics publications|
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