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A simple blood draw could one day detect down syndrome in pregnancy

NCT ID NCT01429389

Diagnosis Sponsor: Sequenom, Inc. Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now This study
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

First seen Sep 09, 2026 · Last updated Sep 10, 2026 · Updated 1 time

Summary

Researchers are collecting blood samples from pregnant women at higher risk of having a baby with a chromosomal condition. The goal is to develop a noninvasive prenatal test that looks at cell-free DNA in the mother's blood to detect Down syndrome. Participants give blood between 10 and 22 weeks of pregnancy and also undergo standard invasive testing for comparison. The study does not test a treatment; it gathers data to see if the blood test can accurately identify the condition.

What this could mean

Our plain-language read of the trial. This is informational only, not medical advice or a prediction.

Active substance
a noninvasive prenatal blood test that analyzes cell-free DNA from the mother's plasma
What this could lead to
If it works, pregnant women at higher risk could get a safer, simpler test for Down syndrome that uses only a blood draw from the mother.
What could go wrong
The test may not prove accurate enough to replace invasive procedures like amniocentesis. This is a specimen collection study, so it cannot show whether the test improves outcomes.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Participants

About 2,000 people

The number the study aims to enrol. It can still change while the study runs.

Started

May 2011

Expected to finish

Mar 2028

An estimate. End dates often move.

Lead sponsor

A company

The lead sponsor is a pharmaceutical, biotech, or medical-device company.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Who is studied

Pregnant women between 10 and 22 weeks of gestation who are scheduled to undergo a CVS or amniocentesis procedure and will receive the fetal FISH, karyotype and/or QF-PCR results from the procedure.

Ages

18 years and older

Sex

Female participants only

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

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

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Conditions

The condition(s) this trial relates to.

aneuploidy Down syndrome trisomy

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Down syndrome Fetal aneuploidy

How to take part

Only the study team decides who joins. These are the ways to reach them.

  1. The study's own enquiry address

    This study publishes an address for enquiries. See it below .

  2. The places running it

    14 sites in 2 countries. The list below names each one and where it is.

  3. The official record

    ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.

    Open the record ↗

  4. A doctor treating you

    A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.

Contacts and locations

Locations

  • Cedars-Sinai Medical Center

    RECRUITING

    Los Angeles, California, 90048, United States

  • Henry Ford Hospital

    RECRUITING

    Detroit, Michigan, 48202, United States

  • IWK Health Centre

    RECRUITING

    Halifax, Nova Scotia, B3K 6R8, Canada

  • Medical University of South Carolina

    RECRUITING

    Charleston, South Carolina, 29466, United States

  • North York General Hospital

    RECRUITING

    Toronto, Ontario, Canada

  • Reproductive Genetics Institute

    RECRUITING

    Chicago, Illinois, 60602, United States

  • Sharp-Rees Stealy Medical Group

    RECRUITING

    San Diego, California, 92101, United States

  • Specialty Obstetrics of San Diego

    RECRUITING

    San Diego, California, 92130, United States

  • Spectrum Health

    RECRUITING

    Grand Rapids, Michigan, 49503, United States

  • The Cooper Health System

    RECRUITING

    Camden, New Jersey, United States

  • UCSD

    RECRUITING

    San Diego, California, 92121, United States

  • University of Alabama Birmingham

    RECRUITING

    Birmingham, Alabama, 35294, United States

  • University of Iowa Health Care

    RECRUITING

    Iowa City, Iowa, 52242, United States

  • Women's Health Care Research

    RECRUITING

    San Diego, California, 92123, United States

    Contact Email: •••••@•••••

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