Collecting samples from pregnant women at risk for fetal chromosomal abnormalities

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

Sequenom, Inc. · NCT01429389

This study is testing a new blood test for pregnant women at risk of having a baby with Down syndrome to see if it can provide accurate results compared to traditional testing methods.

Quick facts

Study typeObservational
Enrollment2000 (estimated)
Ages18 Years and up
SexFemale
SponsorSequenom, Inc. (industry)
Locations14 sites (Birmingham, Alabama and 13 other locations)
Trial IDNCT01429389 on ClinicalTrials.gov

What this trial studies

This observational study aims to collect blood samples from pregnant women who are at increased risk for fetal aneuploidy, specifically Down syndrome. The collected specimens will be used to develop a noninvasive prenatal test that analyzes circulating cell-free fetal nucleic acid. Participants will also undergo invasive prenatal diagnostic procedures, such as chorionic villus sampling or amniocentesis, to compare the results of the new test with traditional chromosomal analysis. The goal is to enhance prenatal screening methods for fetal aneuploidy.

Who should consider this trial

Good fit: Ideal candidates are pregnant women aged 18 or older, between 10 and 22 weeks of gestation, who are at increased risk for fetal aneuploidy and willing to undergo invasive testing.

Not a fit: Patients who have experienced fetal demise at the time of specimen sampling or those who have previously donated samples under this protocol may not benefit from this study.

Why it matters

Potential benefit: If successful, this study could lead to a safer, noninvasive prenatal testing option for detecting fetal aneuploidies.

How similar studies have performed: Other studies have shown promise in developing noninvasive prenatal tests, indicating a potential for success with this approach.

Eligibility criteria

Show full inclusion / exclusion criteria
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

Where this trial is running

Birmingham, Alabama and 13 other locations

How to participate

  1. Review the eligibility criteria above with your treating physician.
  2. Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
  3. Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.

View on ClinicalTrials.gov →

Conditions: Down Syndrome, Fetal Aneuploidy, Down syndrome, fetal aneuploidy, trisomy, noninvasive screening test

Last reviewed 2026-05-15 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.