Specimen Collection from Pregnant Women At Increased Risk for Fetal Aneuploidy

Sequenom

Status: Enrolling

Conditions: Down Syndrome; Fetal Aneuploidy

Study type: Observational

Funder types: Industry

Identifiers

NCT01429389

SQNM-T21-107

Details and patient eligibility

About

The specimen collection is designed for the purpose of the development of a noninvasive prenatal test for T21.

Full description

To collect specimens for the purpose of developing a prenatal aneuploidy test. The test will analyze circulating cell free fetal (ccff) nucleic acid from blood samples from pregnant women who have an increased risk indicator/s for fetal chromosomal aneuploidy and are undergoing invasive prenatal diagnosis by chorionic villus sampling (CVS) and/or genetic amniocentesis. The results of the ccff aneuploidy test will be compared to the chromosomal analysis obtained via CVS or genetic amniocentesis.

Enrollment: 2,000 estimated patients

Sex: Female

Ages: 18+ years old

Volunteers: No Healthy Volunteers

Inclusion criteria

• pregnant between 10 and 22 weeks gestation
• 18 years of age or older
• provides signed and dated informed consent
• subject is at increased risk for fetal aneuploidy
• subject is willing to undergo a CVS and/or amniocentesis procedure for the purpose of genetic analysis
• subject agrees to provide the genetic results of the invasive procedure

Exclusion criteria

• Fetal demise at time of specimen sampling
• Previous sample donation under this protocol