Prenatal diagnosis of Smith-Lemli-Opitz syndrome is possible by measurement of 7-dehydrocholesterol in amniotic fluid.
Prenat Diagn
; 15(9): 855-8, 1995 Sep.
Article
en En
| MEDLINE
| ID: mdl-8559757
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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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Síndrome de Smith-Lemli-Opitz
/
Deshidrocolesteroles
/
Amniocentesis
/
Líquido Amniótico
Tipo de estudio:
Diagnostic_studies
/
Etiology_studies
Límite:
Adult
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Female
/
Humans
/
Pregnancy
Idioma:
En
Revista:
Prenat Diagn
Año:
1995
Tipo del documento:
Article
País de afiliación:
Canadá