Diagnosis of Smith-Lemli-Opitz Syndrome

Case Number CH-026

Inventor: Cedric Shackleton, PhD, DSc

Patent No. Title Issue Date Country
6,808,932 Diagnosis of Smith-Lemli-Opitz Syndrome 10/26/2004 United States
Pending     United States

Smith-Lemli-Opitz Syndrome (SLOS) is a genetic disorder that affects the development of children both before and after birth.  SLOS affects about 1:20,000 individuals.  The syndrome was first described in 1964 in three boys with poor growth, developmental delay, and a common pattern of congenital malformations including cleft palate, genital malformations, and polydactyly (extra fingers and toes).  In 1993, scientists discovered that children with SLOS are unable to make sufficient cholesterol.

The challenge in prenatal diagnosis has been the identification of a non-invasive test that involves detection of definitive and SLOS-specific analytes, and which can be performed early in pregnancy.  Many of the conventional SLOS screening assays involve detecting varying levels of 7-DHC, cholesterol or estriol (E3) or a combination thereof, in chorionic villus or amniotic fluid samples, each of which are invasive tests and can pose a risk to the fetus.

This invention provides a reliable, reproducible and non-invasive assay for the detection for screening women’s urine for SLOS affected fetuses early on in pregnancy.

An advantage of the method of this invention is that SLOS can be diagnosed in an affected fetus as early as 10 weeks or 11 weeks gestation.  Another advantage is the method minimizes the number of false positives detected, and still another advantage is that the severity of the disorder in a particular individual can be determined.

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