Collecting samples from pregnant women at risk for fetal chromosomal abnormalities
Official title: 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
Run by Sequenom, Inc. · NCT01429389 · Data updated 2026-11-12
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 type | Observational |
|---|---|
| Ages | 18 Years and up |
| Sex | Women only |
| Enrollment | 2000 (estimated) |
| Sponsor | Sequenom, Inc. Industry-sponsored |
| Locations | 14 sites (Birmingham, Alabama and 13 other locations) |
| Status | Recruiting |
| Started | May 2011 |
| Main results expected | December 2027 |
| Study ends | March 2028 |
| Registry record updated | September 9, 2026 |
| Trial ID | NCT01429389 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a 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.
✕Probably 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.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
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.
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 gone: Other studies have shown promise in developing noninvasive prenatal tests, indicating a potential for success with this approach.
Who can join: the full rules
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 it's running
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University of Alabama Birmingham
Birmingham, Alabama, United States Recruiting -
Cedars-Sinai Medical Center
Los Angeles, California, United States Recruiting -
Sharp-Rees Stealy Medical Group
San Diego, California, United States Recruiting -
UCSD
San Diego, California, United States Recruiting -
Women's Health Care Research
San Diego, California, United States Recruiting -
Specialty Obstetrics of San Diego
San Diego, California, United States Recruiting
Show 8 more locations
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Reproductive Genetics Institute
Chicago, Illinois, United States Recruiting -
University of Iowa Health Care
Iowa City, Iowa, United States Recruiting -
Henry Ford Hospital
Detroit, Michigan, United States Recruiting -
Spectrum Health
Grand Rapids, Michigan, United States Recruiting -
The Cooper Health System
Camden, New Jersey, United States Recruiting -
Medical University of South Carolina
Charleston, South Carolina, United States Recruiting -
IWK Health Centre
Halifax, Nova Scotia, Canada Recruiting -
North York General Hospital
Toronto, Ontario, Canada Recruiting
Similar studies
Other studies for the same condition or treatment. Recruiting studies are listed first.
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Kinematic analysis of hand and arm movement in kids with Down syndrome, CP and healthy children
This study tests how well an instrumented Box and Block Test and motion tracking can measure upper-limb movement in healthy kids and those with pyramidal hemisyndrome or Down syndrome.
-
Sensory integration to help balance and movement in kids with Down syndrome
Aimed at seeing if adding sensory integration to physical therapy helps improve gross motor skills and balance in children with Down syndrome.
-
Collaboration for Down Syndrome Progress (CDP) in people with Down syndrome
A long-term study following people with Down syndrome of all ages to see how health and everyday life change over time.
-
JAK inhibitor treatment for Down syndrome in children and young adults
This study tests whether 6 months of tofacitinib can help improve safety and neurodevelopment in people with Down syndrome aged 6 to 22, compared with placebo.
-
Jump rope to improve navicular drop and foot posture in children with Down syndrome
This project will test whether adding jump-rope exercises to play activities helps improve foot posture in 4–15-year-old children with Down syndrome who have navicular drop.
-
Thymus removal and immune aging in people with Down syndrome
This study will try to see if removing part of the thymus affects immune health over time in people aged 1 and older with Down syndrome, comparing those who had thymectomy to those who did not and to unaffected household relatives.
How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.