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Prenatal Diagnosis of Smith–lemli–opitz Syndrome Is Possible by Measurement of 7-Dehydrocholesterol in Amniotic Fluid by L. Dallaire; G. Mitchell; R. Giguère; F. Lefebvre; S. B. Melançon; M. Lambert is a Medicine article available to read on EtoBox.

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## Abstract Amniocentesis was performed at 17.3 weeks in a pregnancy with severe intrauterine growth retardation. Cytogenetic studies on amniocytes were normal, 46,XX, and the pregnancy was continued. The diagnosis of Smith–Lemli–Opitz syndrome was suspected in the neonatal period and confirmed by the presence of 7‐dehydrocholesterol (7‐DHC) in the plasma (0.4 mmol/l, normal = not detectable) associated with a low total cholesterol concentration (0.4 mmol/l, normal = 2.56 ± 0.23). Retrospective analysis of the amniotic fluid sample revealed an elevated level of 7‐DHC (0.022 mmol/l; normal = undetectable). Therefore measurement of 7‐DHC levels in amniotic fluid during the second trimester of pregnancy is useful for the prenatal diagnosis of Smith–Lemli–Opitz syndrome in families at risk and should be considered in cases of severe growth retardation of unknown aetiology for which amniotic fluid is available and in which a normal chromosomal pattern in amniocytes is present.

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Author

L. Dallaire; G. Mitchell; R. Giguère; F. Lefebvre; S. B. Melançon; M. Lambert

Publisher

John Wiley and Sons; Wiley (John Wiley & Sons); John Wiley & Sons Inc.; Wiley; Research Square (ISSN 0197-3851)

Published

1995

Language

EN

Field

Medicine (Health Sciences)