A cytogenetically normal male fetus was subsequently found to have female external genitalia, a cardiac malformation and mid-trimester intra-uterine growth retardation by ultrasound examination. The maternal serum oestriol level was low. The combination of low oestriol and sonographic findings sugge
✦ LIBER ✦
Dehydro-oestriol and dehydropregnanetriol are candidate analytes for prenatal diagnosis of Smith-Lemli-Opitz syndrome
✍ Scribed by Cedric H. L. Shackleton; Esther Roitman; Lisa Kratz; Richard Kelley
- Publisher
- John Wiley and Sons
- Year
- 2001
- Tongue
- English
- Weight
- 94 KB
- Volume
- 21
- Category
- Article
- ISSN
- 0197-3851
No coin nor oath required. For personal study only.
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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/