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.

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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

  • Hopital de Béclère

    Clamart, 75014, France

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