New blood test could replace risky prenatal procedures for genetic diseases

NCT ID NCT03087526

Completed Diagnosis Sponsor: University Hospital, Montpellier Source: ClinicalTrials.gov ↗

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

Summary

This study aimed to develop a non-invasive prenatal test using fetal cells from a mother's blood to detect triplet repeat diseases like Huntington's disease, Fragile X syndrome, and certain types of muscular dystrophy and ataxia. Researchers enrolled 60 pregnant women at risk and compared the new blood-based test results to the standard invasive tests (chorionic villus sampling or amniocentesis). The goal was to see if the new method could accurately and safely diagnose these genetic conditions without the risks of invasive procedures.

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Conditions

The condition(s) this trial relates to.

fragile X syndrome Huntington disease Machado-Joseph disease myotonic dystrophy myotonic dystrophy type 1 spinocerebellar ataxia type 1 spinocerebellar ataxia type 2 Spinocerebellar Ataxias

As listed by the trial registrant

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

NON INVASIVE PRENATAL DIAGNOSIS

Contacts and locations

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Locations

CH Saint Brieuc

Saint-Brieuc, 22027, France
CHU Bordeaux

Bordeaux, 33076, France
CHU Montpellier

Montpellier, 34295, France
CHU Nice

Nice, 06202, France
CHU Nîmes

Nîmes, 30029, France
CHU Rennes

Rennes, 35203, France
CHU Strasbourg

Schiltigheim, 67303, France
CHU Toulouse

Toulouse, 31059, France

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