Sequenom, Inc.
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