Ignite Creation Date:
2024-05-05 @ 11:32 AM
Last Modification Date:
2024-10-26 @ 9:09 AM
Study NCT ID:
NCT00070850
Status:
COMPLETED
Last Update Posted:
2007-07-02
First Post:
2003-10-08
Brief Title:
Prenatal Screening For Smith-Lemli-Opitz Syndrome
Sponsor:
Eunice Kennedy Shriver National Institute of Child Health and Human Development NICHD
Organization:
Eunice Kennedy Shriver National Institute of Child Health and Human Development NICHD
Study Overview
Official Title:
The Feasibility of Screening for Smith-Lemli-Opitz Syndrome
Status:
COMPLETED
Status Verified Date:
2005-08
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief Summary:
Smith-Lemli-Opitz Syndrome SLOS is a genetic condition that causes mental retardation and other birth defects This study will evaluate a new prenatal screening test for SLOS
Detailed Description:
SLOS is an inherited metabolic disorder characterized by moderate to severe mental retardation and congenital anomalies SLOS is caused by a deficiency of the enzyme 7-dehydrocholesterol reductase and the resulting defect in the conversion of 7-dehydrocholesterol to cholesterol SLOS can now be reliably detected prenatally by analysis of amniotic fluid 7-8- dehydrocholesterol 78-DHC levels Unconjugated estriol uE3 is one of the maternal serum analytes currently measured routinely to screen for Down syndrome This analyte requires cholesterol as a precursor and its concentration in maternal serum is lower when the fetus has SLOS
Currently there is no national standard for the approach taken in prenatal screening existing programs vary both in availability and in the protocol and algorithms used 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 This study will evaluate the efficacy of routinely identifying Smith-Lemli-Opitz Syndrome SLOS prenatally
The screening model in this study is based on data from SLOS pregnancies and will be tested in 1000000 pregnancies in which maternal serum uE3 alpha-fetoprotein and human chorionic gonadotrophin measurements are being done as part of routine screening for Down syndrome The screening false positive rate is projected to be 034 the detection rate 62 and the odds of being affected given a positive screening result 170 These rates all compare favorably with prenatal screening tests now in routine use The study will also determine whether SLOS diagnostic studies can be carried out in maternal urine or serum rather than amniotic fluid thereby avoiding invasive procedures
Participants in this study will be pregnant women undergoing amnioscentisis during the second trimester Women who have a positive test for SLOS will be asked to provide a urine and blood sample The study will collect data on patient demographics and family history data will also be obtained from the participants ultrasound karyotype alpha-fetoprotein maternal serum screening and SLOS reports Three months after the pregnancy due date a genetic counselor will contact the participant to obtain basic information about the babys delivery and health
Currently there is no national standard for the approach taken in prenatal screening existing programs vary both in availability and in the protocol and algorithms used 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 This study will evaluate the efficacy of routinely identifying Smith-Lemli-Opitz Syndrome SLOS prenatally
The screening model in this study is based on data from SLOS pregnancies and will be tested in 1000000 pregnancies in which maternal serum uE3 alpha-fetoprotein and human chorionic gonadotrophin measurements are being done as part of routine screening for Down syndrome The screening false positive rate is projected to be 034 the detection rate 62 and the odds of being affected given a positive screening result 170 These rates all compare favorably with prenatal screening tests now in routine use The study will also determine whether SLOS diagnostic studies can be carried out in maternal urine or serum rather than amniotic fluid thereby avoiding invasive procedures
Participants in this study will be pregnant women undergoing amnioscentisis during the second trimester Women who have a positive test for SLOS will be asked to provide a urine and blood sample The study will collect data on patient demographics and family history data will also be obtained from the participants ultrasound karyotype alpha-fetoprotein maternal serum screening and SLOS reports Three months after the pregnancy due date a genetic counselor will contact the participant to obtain basic information about the babys delivery and health
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None