Aneuploidy, Down Syndrome, Noninvasive Prenatal Screening
Conditions
Brief summary
Pregnant women with low risk indicators for fetal chromosomal aneuploidy will be enrolled. Study blood will be collected in the first or second trimester at a scheduled prenatal screening visit, processed to plasma, and stored frozen until analysis. Each pregnancy will be followed until delivery and the birth outcome recorded.
Interventions
DEVICESEQureDx Trisomy Test
Plasma samples obtained from maternal blood will be tested using the SEQureDx Trisomy Test, an in vitro diagnostic test that measures circulating cell-free fetal DNA. The test detects the relative quantity of chromosome 21, which is associated with trisomy 21.
Sponsors
Sequenom, Inc.
Study design
Observational model
CASE_ONLY
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
FEMALE
Age
18 Years to 34 Years
Healthy volunteers
No
Inclusion criteria
* Pregnancy is 10-22 weeks gestation * Between 18-34 years of age inclusive at estimated date of delivery * No prenatal screening indicators for high risk including serum biochemical and ultrasound screening * No personal or family history of Down syndrome * Willing to provide written informed consent * Willing to provide a whole blood sample * Willing to provide access to medical records supporting fetal outcome
Exclusion criteria
* Fetal demise at the time of the blood draw * Previous specimen donation under this protocol
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Estimate the false positive rate of SEQureDx Trisomy 21 Test | pregnancy outcome |
Countries
United States
Outcome results
None listed