Feasibility of prenatal screening for slo syndrome

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Project Title: Feasibility of prenatal screening for slo syndrome
Principal Investigators (PI): HADDOW JAMES E
Project Number: 5R01HD038940-02
Organization: FOUNDATION FOR BLOOD RESEARCH
 
Project Description:
This study aims to evaluate the efficacy of routinely identifying Smith-Lemli-Opitz Syndrome (SLOS) prenatally. This serious inherited metabolic disorder (birth prevalence 1:20,000) is characterized by moderate to severe mental retardation and congenital anomalies. Two circumstances now make it possible to carry out the proposed intervention trial. First, the cause of SLOS is now known to be a defect in the conversion of 7-dehydrocholesterol to cholesterol. This discovery makes it possible to confirm the diagnosis biochemically by measuring cholesterol precursors in the serum of affected individuals and in amniotic fluid. Secondly, the array of maternal serum analytes currently measured routinely to screen for Down syndrome in 2,000,000 U.S. pregnancies annually includes unconjugated estriol (uE3). This analyte requires cholesterol as a precursor, and its concentration in maternal serum is lower when the fetus has SLOS. The major barrier to identifying SLOS prenatally is the absence of sound screening methodology that takes into account the detection rate, the false positive rate, and the prevalence. The investigators have developed a model, based on actual data from SLOS pregnancies, and propose to test it in 1,000,000 pregnancies in which maternal serum uE3 (and other) measurements are currently being done routinely. The screening false positive rate is projected to be 0.2 percent, the detection rate 57 percent, and the odds of being affected given a positive result 1:70. These rates all compare favorably with routine prenatal screening tests. Diagnostic testing in amniotic fluid is highly reliable and will correctly identify the affected and unaffected pregnancies. In the proposed trial, the investigators will introduce this SLOS model into several major U.S. prenatal screening centers, and develop informational materials for both physicians and patients. Diagnostic testing will be provided by participating expert laboratories. It will also be possible, for the first time, to determine whether SLOS diagnostic studies can be carried out in maternal urine, rather than amniotic fluid, thereby avoiding invasive procedures. The study will also aid in refining prevalence estimates by race and ethnicity, and will determine whether several rare disorders in the cholesterol biosynthetic pathway would be detectable.
 
Project Terms:
prenatal diagnosis orphan disease /drug genetic counseling inborn metabolism disorder diagnosis estriol diagnosis design /evaluation mass screening disease /disorder proneness /risk educational resource design /development women's health urine steroid biosynthesis serum diagnosis quality /standard pregnancy amniocentesis racial /ethnic difference sulfatases patient oriented research questionnaires urinalysis blood tests gas chromatography mass spectrometry human pregnant subject
Project Title: Feasibility of prenatal screening for slo syndrome
Principal Investigators (PI): HADDOW JAMES E
Project Number: 5R01HD038940-02
Organization: FOUNDATION FOR BLOOD RESEARCH
 
Project Categories:
• Natural Sciences > Metabolism & Nutrition > Vitamins
 
Other Information:
Fiscal Year: 2001
Project Start Date: 1 April 2001
Project End Date: 31 March 2004
Administering Institute Or Center: HD
 
Project Funding Information:
Total Funding: $1,804,263
Year Funding Organization Total Funding, $
2002 EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH & HUMAN DEVELOPMENT $1,804,263
Project Title: Feasibility of prenatal screening for slo syndrome
Principal Investigators (PI): HADDOW JAMES E
Project Number: 5R01HD038940-02
Organization: FOUNDATION FOR BLOOD RESEARCH
 
Project_number Title Year FY Total Cost
There are no results for this project in database.
Project Title: Feasibility of prenatal screening for slo syndrome
Principal Investigators (PI): HADDOW JAMES E
Project Number: 5R01HD038940-02
Organization: FOUNDATION FOR BLOOD RESEARCH
 
Project number Project title Organization FY Funding Organization FY Total Cost
5R01HD038940-02FEASIBILITY OF PRENATAL SCREENING FOR SLO SYNDROMEFOUNDATION FOR BLOOD RESEARCH2002EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH & HUMAN DEVELOPMENT
$1,804,263
1R01HD038940-01A1FEASIBILITY OF PRENATAL SCREENING FOR SLO SYNDROMEFOUNDATION FOR BLOOD RESEARCH2001EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH & HUMAN DEVELOPMENT
$1,700,530
Project Title: Feasibility of prenatal screening for slo syndrome
Principal Investigators (PI): HADDOW JAMES E
Project Number: 5R01HD038940-02
Organization: FOUNDATION FOR BLOOD RESEARCH
 
Project number Project title Principal investigator
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Project Title: Feasibility of prenatal screening for slo syndrome
Principal Investigators (PI): HADDOW JAMES E
Project Number: 5R01HD038940-02
Organization: FOUNDATION FOR BLOOD RESEARCH
 
Title Abstract Authors Year Rel
Assigning risk for Smith-Lemli-Opitz syndrome as part of 2nd trimester screening for Down's syndrome. Journal of medical screening.. 2002 9 (1) :43-4 Palomaki, G E; Bradley, L A; Knight, G J; Craig, W Y; Haddow, J E 2002