Blood test could replace risky amniocentesis for down syndrome diagnosis
NCT ID NCT01725438
First seen Jun 27, 2026 · Last updated Jun 27, 2026
Summary
This study tested a new blood test to diagnose Down syndrome (trisomy 21) in pregnant women without the risks of invasive procedures like amniocentesis. Researchers collected blood samples from 150 pregnant women at high risk and analyzed fetal cells. The goal is to provide a safe, accurate, and cost-effective alternative to current diagnostic methods.
What this could mean
Our plain-language read of the trial. This is informational only, not medical advice or a prediction.
- What this could lead to
- If successful, this could provide a safe, non-invasive blood test to diagnose Down syndrome during pregnancy, avoiding the miscarriage risk of current invasive tests.
- What could go wrong
- This is a validation study with 150 participants, not yet proven in large populations. The method may not be accurate enough or cost-effective for widespread use.
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.
- Phase
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Not a phased trial
Phase numbers describe drug development. The registry uses this when they do not apply, as it does for trials of devices, procedures or behaviour changes, and for observational studies.
- Participants
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150 people
The number who actually took part.
- Started
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Jun 2012
- Finished
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Dec 2021
- Lead sponsor
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Other sponsor
The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.
Who can take part
This study's own entry requirements. Only the study team can say for certain whether you qualify.
- Ages
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18 years and older
- Sex
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Anyone
- Healthy volunteers
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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 Hide 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 women older than 18 years old * Pregnant women followed at a prenatal diagnostic centre * Pregnant woman having a risk (\> 1/250) of trisomy 21 based on the combined screening "serological tests/nuchal ultrasonography " * Sample of blood and cervical smear obtained between the 8th and the 10th WG * Pregnant women accepting an invasive prenatal diagnosis * Father of the child agreeing to participate in the clinical study (accepting to give a saliva sample) * Pregnant women beneficiary of a national insurance program * Pregnant women and fathers signing an informed consent Exclusion Criteria: * Pregnant women with combined risk of trisomy 21 \< 1/250 * Pregnant women non accepting the invasive prenatal diagnosis * Pregnant women participating another clinical study
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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
Contacts and locations
Locations
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Hopital de Béclère
Clamart, 75014, France
More trials for these conditions
Other studies related to the condition(s) this trial covers.
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