Specimen Collection from Pregnant Women At Increased Risk for Fetal Aneuploidy

Collection of Whole Blood Specimens from Pregnant Women At Increased Risk of Fetal Chromosomal Abnormality for Use in Development of a Noninvasive Prenatal Test in the Detection of the Relative Quantity of Chromosomal Material in Circulating Cell-Free DNA Extracted from Maternal Plasma

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

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.

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