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A deeper genetic look at fetuses with ultrasound warning signs

NCT ID NCT07790536

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 trial is taking on new participants right now.
Not yet recruiting This study
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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 Aug 27, 2026 · Last updated Aug 28, 2026 · Updated 1 time

Summary

This study tests whether adding genome sequencing and RNA sequencing to standard prenatal tests can help diagnose rare diseases in fetuses with ultrasound anomalies. Researchers will compare the diagnostic yield of this combined approach with the current standard of chromosomal microarray analysis and exome sequencing. The study involves 100 couples whose pregnancies have been referred for prenatal exome sequencing. The goal is to see if the extra genetic information can reduce the number of uncertain results and improve the accuracy of prenatal diagnosis.

What this could mean

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

Active substance
Genome sequencing (GS) combined with RNA sequencing (RNA-Seq) as a diagnostic test
What this could lead to
If it works, this could make prenatal testing more accurate, helping doctors identify rare genetic conditions in fetuses with ultrasound warning signs and reducing uncertainty for families.
What could go wrong
This is a relatively small study, and the added sequencing may not always provide clearer answers. It may also take longer to get results, and the approach needs to prove it works in real-world prenatal care.

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 100 people

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

Expected to start

Sep 2026

An estimate. Start dates often move.

Expected to finish

Mar 2028

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

Couples whose indication for prenatal exome sequencing has been reviewed and approved by a multidisciplinary prenatal diagnostic center.

Ages

18 years and older

Sex

Anyone

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: * Participating couple aged ≥ 18 years * Ongoing pregnancy for which the indication for exome sequencing has been discussed and validated by a Multidisciplinary Prenatal Diagnosis Center (CPDPN). While a strict list of indications is not appropriate in the prenatal setting, examples include multiple anomalies not related to a malformation sequence, persistent increased nuchal translucency, hydrops fetalis (anasarca), cleft palate, multiple contractures/arthrogryposis, skeletal dysplasia, bowed femurs, or brain anomalies. * Sequencing performed on an amniotic fluid sample (chorionic villus sampling is excluded) * Attendance at a genetic counseling consultation * Written informed consent obtained for study participation Exclusion Criteria: * Couple not covered by the social security system * Couple deprived of liberty or under legal guardianship or curatorship * Monoparental pregnancies

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As listed by the trial registrant

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

Couples eligible for prenatal exome sequencing

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 Necker Enfants malades

    Paris, Île-de-France Region, 75015, France