Diagnosis Of Smith-lemli-optiz Syndrome


The invention provides a non-invasive assay for the detection of a SLOS affected individual by determining the ratio of at least one of the specific SLOS steroid analytes, dehydro-estriol (8-DHE3) and a dehydro-pregnanetriol (7-DHPT) to their normal steroid counterparts estriol (E3) and pregnanetriol (PT), respectively. 8-DHE3 and 7-DHPT represent metabolites which accumulate in the blood and urine of an individual with SLOS or an individual carrying a SLOS affected fetus. The invention provides for a reliable and reproducible method of screening women for SLOS affected fetuses early on in pregnancy.

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Document History
  • Publication: Oct 26, 2004
  • Application: Feb 15, 2002
    US US 7757702 A
  • Priority: Feb 15, 2002
    US US 7757702 A

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