Non-Invasive Screening for Fetal Aneuploidy

Sequenom

Status: Completed

Conditions: Down Syndrome; Edwards Syndrome

Treatments: Other: Maternal blood screening test for fetal aneuploidy

Study type: Observational

Funder types: Industry; Other

Identifiers

NCT00847990

SQNM-T21-301

Details and patient eligibility

About

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.

Enrollment: 5,000 estimated patients

Sex: Female

Ages: 18+ years old

Volunteers: No Healthy Volunteers

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

Trial design

5,000 participants in 1 patient group

Pregnant women

Description:

Pregnant women who are scheduled to undergo an amniocentesis or CVS procedure and will receive the fetal FISH and/or karyotype results from the procedure.

Treatment:

Other: Maternal blood screening test for fetal aneuploidy