PMID: 9160388Apr 1, 1997Paper

First-trimester diagnosis of Smith-Lemli-Opitz syndrome

Prenatal Diagnosis
P SharpW 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.

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Citations

Aug 8, 2001·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·A P SoukaK H Nicolaides
Jul 20, 2010·Clinics in Laboratory Medicine·Laura Goetzl
Feb 20, 2018·Journal of Pediatric Endocrinology & Metabolism : JPEM·Sarah E DonoghueSusan M White
Sep 12, 2002·Prenatal Diagnosis·Judith LoefflerMartina Witsch-Baumgartner
Dec 18, 2001·Prenatal Diagnosis·I WittersJ P Fryns
Feb 17, 2007·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Jiri Sonek
Jul 13, 2001·Journal of Perinatal Medicine·C Sen
Jan 22, 2004·American Journal of Medical Genetics. Part a·Alice GoldenbergValérie Cormier-Daire
Jan 16, 2013·European Journal of Pediatrics·Anna V OláhIstván Balogh
Dec 27, 2005·Prenatal Diagnosis·Pierangela De BiasioMirella Filocamo
Sep 26, 2000·Molecular Genetics and Metabolism·K P Battaile, R D Steiner

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