Specimen Collection From Pregnant Women at Increased Risk for Fetal Aneuploidy

Status:	Recruiting
Conditions:	Other Indications
Therapuetic Areas:	Other
Healthy:	No
Age Range:	18 - Any
Updated:	4/21/2016
Start Date:	May 2011
End Date:	March 2017

Collection of Whole Blood Specimens From Pregnant Women at Increased Risk of Fetal Chromosomal Aneuploidy for Use in Development of the SEQureDx Trisomy 21 Test in the Detection of the Relative Quantity of Chromosome 21 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

We found this trial at

sites

Sharp Rees-Stealy Medical Group, Inc.

San Diego, California 92101

Principal Investigator: Denis Tarakjian, MD

Phone: 619-446-1624

from

San Diego, CA