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FIRST‐TRIMESTER DIAGNOSIS OF SMITH–LEMLI–OPITZ SYNDROME
Author(s) -
SHARP P.,
HAAN E.,
FLETCHER J. M.,
KHONG T. Y.,
CAREY W. F.
Publication year - 1997
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/(sici)1097-0223(199704)17:4<355::aid-pd78>3.0.co;2-m
Subject(s) - smith–lemli–opitz syndrome , medicine , first trimester , obstetrics , pregnancy , pediatrics , fetus , biology , genetics , reductase , biochemistry , 7 dehydrocholesterol reductase , enzyme
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. © 1997 by John Wiley & Sons, Ltd.