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Blood test could replace risky needle for prenatal genetic diagnosis

NCT ID NCT06147414

First seen Jan 22, 2026 · Last updated Jun 22, 2026 · Updated 26 times

Summary

This study is testing a new blood test that can diagnose single-gene disorders in unborn babies using a sample from the mother. The test looks at fetal DNA found in the mother's blood, which is safer than traditional invasive methods that carry a small risk of miscarriage. Researchers aim to enroll 550 pregnant women to see how accurate the test is for conditions like sickle cell disease, cystic fibrosis, and muscular dystrophy.

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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

Study contacts

  • Contact

    Phone: •••-•••-•••• Email: •••••@•••••

  • Contact

    Phone: •••-•••-•••• Email: •••••@•••••

Locations

  • Hôpital Cochin, Maternité Port-Royal, service de Gynécologie obstétrique

    RECRUITING

    Paris, 75014, France

    Contact Email: •••••@•••••

What this could mean

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

Active substance

blood sample

What this could lead to

If successful, this could replace invasive prenatal tests with a simple blood draw, reducing miscarriage risk and enabling earlier diagnosis for many genetic conditions.

What could go wrong

The test is still being validated and may not work for all families or conditions. Inconclusive results are possible, and the approach is complex and not yet widely available.

Conditions

The condition(s) this trial relates to.

autosomal recessive polycystic kidney disease Becker muscular dystrophy cystic fibrosis Duchenne muscular dystrophy fragile X syndrome hemophilia A hemophilia B Huntington disease myotonic dystrophy neurofibromatosis neurofibromatosis-Noonan syndrome Polycystic Kidney, Autosomal Recessive proximal spinal muscular atrophy sickle cell disease X-linked hydrocephalus with stenosis of the aqueduct of Sylvius

As listed by the trial registrant

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