Noninvasive Screening for Fetal Aneuploidy: A New Maternal Plasma Marker

Sequenom

Status: Completed

Conditions: Aneuploidy; Down Syndrome; Edwards Syndrome; Pregnancy

Study type: Observational

Funder types: Industry

Identifiers

NCT00971334

SQNM-T21-202

Details and patient eligibility

About

The purpose of this study is to collect samples for the purpose of developing a prenatal aneuploid test using circulating cell free fetal (ccff) nucleic acid from blood samples from pregnant women who have a high-risk pregnancy undergoing invasive prenatal diagnosis by chorionic villus sampling (CVS) and/or genetic amniocentesis. The results of the ccff aneuploid test will be compared to the chromosomal analysis obtained via CVS or amniocentesis.

Enrollment: 2,502 patients

Sex: Female

Ages: 18+ years old

Volunteers: No Healthy Volunteers

Inclusion criteria

• Subject is female
• Subject is pregnant
• Subject is 18 years of age or older
• Subject provides a signed and dated informed consent
• Subject agrees to provide a 30-50mL blood sample
• Subject is at increased risk for Down syndrome or other aneuploidies (greater than or equal to 35 years of age at time of delivery, elevated risk by maternal serum markers including Triple, Quad and integrated test, fetal birth defects or markers identified by ultrasound or family history of aneuploidy).
• Subject plans to undergo an amniocentesis and/or CVS procedure
• Subject agrees that the FISH, karyotype, and/or QF-PCR results obtained via the invasive procedure will be provided

Exclusion criteria

• None