Down Syndrome, Edwards Syndrome
Conditions
Keywords
Down syndrome, aneuploidy, chromosome abnormality, amniocentesis, chorionic villus sampling, Laboratory Developed Test (LDT)
Brief summary
The purpose of this study is to determine if a laboratory test developed by the Sequenom Center for Molecular Medicine (SCMM) that uses a new marker found in the mother's blood can better identify pregnancies that have a child with a chromosome abnormality such as Down syndrome (Trisomy 21), Edwards syndrome (Trisomy 18), or other chromosome abnormality.
Interventions
OTHERMaternal blood screening test for fetal aneuploidy
One blood draw of 20 to 30 mL
Sponsors
Obstetrix
Sequenom, Inc.
Study design
Observational model
CASE_ONLY
Time perspective
CROSS_SECTIONAL
Eligibility
Sex/Gender
FEMALE
Age
18 Years to No maximum
Healthy volunteers
No
Inclusion criteria
* Subject is willing to provide written informed consent * Pregnant female with singleton gestation 18 years of age or older * Subject agrees to provide a 20 to 30 mL venous blood sample * Subject is one of the following: A) currently scheduled to undergo an amniocentesis and/or CVS procedure, OR B) currently in the first trimester of pregnancy and planning to undergo an amniocentesis in the second trimester * Subject will receive results of a genetic analysis that includes evaluation of the fetus for aneuploidy
Exclusion criteria
* Subject lacks the capacity to provide informed consent * Twins, triplets or other multiple gestation
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Validate the prenatal aneuploidy LDT with blood samples from pregnant women who are undergoing invasive prenatal diagnosis | During the 1st and 2nd trimester of pregnancy |
Countries
United States
Outcome results
None listed