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

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT01429389

Enrollment

2000

Registered

2011-09-07

Start date

2011-05-01

Completion date

2028-03-01

Last updated

2026-09-09

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Down Syndrome, Fetal Aneuploidy

Keywords

Down syndrome, fetal aneuploidy, trisomy, noninvasive screening test

Brief summary

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

Detailed description

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.

Interventions

None listed

Study design

Observational model

CASE_ONLY

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

FEMALE

Age

18 Years to No maximum

Healthy volunteers

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

Design outcomes

Primary

Measure	Time frame	Description
Collect samples and data for assay validation.	9-24 weeks of gestatational age	Sensitivity and Specificity

Countries

Canada, United States

Contacts

STUDY_DIRECTORDaniel Grosu, MD

Sequenom, Inc.

Outcome results