Dehydro-oestriol and dehydropregnanetriol are candidate analytes for prenatal diagnosis of Smith-Lemli-Opitz syndrome

Cedric H.L. Shackleton, Esther Roitman, Lisa Kratz, Richard Kelley

Research output: Contribution to journalArticlepeer-review

40 Scopus citations


Gas chromatographic/mass spectrometric (GC/MS) analysis of maternal urine and serum steroids from 13 pregnancies at 25% risk for Smith-Lemli-Opitz syndrome (SLOS) was undertaken. All patients were between 12 and 31 weeks' gestational age. From dehydrocholesterol/cholesterol ratios determined in amniotic fluid and chorionic villus cells, five patients were shown to carry SLOS affected fetuses and eight patients were negative for the condition. Because it had previously been shown that dehydro-oestriol and dehydropregnanetriol were novel steroids produced in SLOS, these compounds were measured in the serum and urine samples of the 13 mothers. All five urine samples from SLOS affected pregnancies had high levels of both dehydrosteroid metabolites, which were below the detection limit in the non-affected pregnancies. The ratios of dehydro-oestriol/oestriol (DHE3/E3) were between 0.073 and 1.42 for the affected patients and less than 0.01 for unaffected patients. Corresponding values for dehydropregnanetriol/pregnanetriol (DHPT/PT) were 0.037-1.02 for affected and less than 0.01 for unaffected. In the positive serum sample available for analysis, the DHE3/E3 ratio was 0.20 [unaffected (n=5), <0.014]. It is proposed that the measurement of DHE3 and DHPT in maternal urine and serum may allow non-invasive antenatal diagnosis of SLOS.

Original languageEnglish (US)
Pages (from-to)207-212
Number of pages6
JournalPrenatal Diagnosis
Issue number3
StatePublished - Apr 17 2001


  • 3β-hydroxysterol-7-reductase
  • 7-Dehydrocholesterol
  • GC/MS
  • Oestriol
  • Smith-Lemli-Opitz syndrome

ASJC Scopus subject areas

  • Obstetrics and Gynecology
  • Genetics(clinical)


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