Maternal urinary steroid profiles in prenatal diagnosis of Smith–Lemli–Opitz syndrome: first patient series comparing biochemical and molecular studies

摘要: Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder caused by reduced activity of 7-dehydrocholesterol (7DHC) reductase, resulting in a decreased level cholesterol and increased concentrations 7DHC 8DHC body fluids tissues. Ten pregnancies at 25% risk SLOS underwent prenatal testing. Diagnostic studies included DHCR7 mutation analysis chorionic villus samples, amniotic fluid sterol serial measurements oestriol (E 3 ), pregnanetriol (PT), 7-dehydropregnanetriol (7DHPT) 8-dehydroesteriol (8DHE ) maternal urine samples obtained between 9 20 weeks gestation. All tests were diagnostic revealed nine unaffected foetuses (two normal homozygotes seven heterozygotes) one affected foetus. In the pregnancy, 9.87 3.7 μg/ ml, respectively [reference range (RR) 0.0026 ± 0.0015 μg/ml not detectable, respectively] urinary steroid analyses showed ratios 7DHPT/PT 8DHE /E 0.74 1.7, (RR 0-0.0147 0-0.019). heterozygous foetuses, did exceed those found 48 controls. This first series testing for where non-invasive biochemical was performed tandem with invasive We conclude that are reliable means diagnosis SLOS.