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Blood test could replace risky amniocentesis for down syndrome diagnosis

NCT ID NCT01725438

First seen Apr 22, 2026 · Last updated Jun 20, 2026 · Updated 13 times

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.

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This is a summary of the original study . Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.

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Contacts and locations

Locations

  • Hopital de Béclère

    Clamart, 75014, France

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.

Conditions

The condition(s) this trial relates to.

Down syndrome trisomy 21

As listed by the trial registrant

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