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Prenatal diagnosis of Smith-Lemli-Opitz syndrome

✍ Scribed by Stewart, Fiona J. ;Nevin, Norman C. ;Dornan, James C.


Publisher
John Wiley and Sons
Year
1995
Tongue
English
Weight
135 KB
Volume
56
Category
Article
ISSN
0148-7299

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## Abstract In a large multi‐center trial involving prenatal screening for Smith–Lemli–Opitz syndrome (SLOS), we evaluated maternal urine and serum steroid analysis as a non‐invasive diagnostic alternative to amniotic fluid sterol analysis. Candidate steroid ratios included: 7‐dehydropregnanetriol/