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Blood test could replace risky needle for prenatal genetic diagnosis

NCT ID NCT06147414

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

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now This study
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

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.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Participants

About 550 people

The number the study aims to enrol. It can still change while the study runs.

Started

Oct 2024

Expected to finish

May 2027

An estimate. End dates often move.

Lead sponsor

Other sponsor

The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Who is studied

Pregnant woman undergoing genetic counselling in a context of family history of SGD either through prenatal diagnosis by invasive sampling or through postnatal diagnosis by sampling of the newborn (for MODY-GCK)

Ages

18 years and older

Sex

Female participants only

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

Inclusion Criteria: * pregnant woman with 9 weeks of amenorrhea or more * singleton pregnancy * undergoing invasive PND in a context of family history of SGD involving the following genes : HBB, CFTR, FMR1, SMN1, DMPK, DMD, NF1, HTT, F8, F9, GCK, L1CAM, PKHD1, or undergoing prenatal counselling in a context of maternal history of diabetes MODY-GCK * germinal pathogenic paternal and/or maternal mutations previously identified * age 18 years old or over * signing an informed consent Exclusion Criteria: * at risk of SGD involving a de novo pathogenic mutation in a previous child * woman under legal protection

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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

How to take part

Only the study team decides who joins. These are the ways to reach them.

  1. The places running it

    1 site. The list below names each one and where it is.

  2. The official record

    ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.

    Open the record ↗

  3. A doctor treating you

    A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.

Contacts and locations

Locations

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

    RECRUITING

    Paris, 75014, France

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