Blood test could replace risky needle for prenatal genetic diagnosis

NCT ID NCT06147414

Recruiting now Diagnosis Sponsor: Assistance Publique - Hôpitaux de Paris Source: ClinicalTrials.gov ↗

First seen Jun 27, 2026 · Last updated Jun 27, 2026

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.

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.

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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.

AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE CYSTIC FIBROSIS FRAGILE X SYNDROME HEMOPHILIA A HEMOPHILIA B HUNTINGTON DISEASE INVASIVE PRENATAL DIAGNOSIS IN A CONTEXT OF FAMILY HISTORY OF SINGLE-GENE DISORDERS, INCLUDING MODY2 DIABETES MUSCULAR DYSTROPHY, BECKER MUSCULAR DYSTROPHY, DUCHENNE MYOTONIC DYSTROPHY NEUROFIBROMATOSIS-NOONAN SYNDROME PROXIMAL SPINAL MUSCULAR ATROPHY SICKLE CELL DISEASE X-LINKED HYDROCEPHALUS

Contacts and locations

Locations

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

Paris, 75014, France

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