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Gene sequencing uncovers mysterious fetal malformations

NCT ID NCT02512354

Knowledge-focused Sponsor: Centre Hospitalier Universitaire Dijon 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
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 This study
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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 tested whether a powerful DNA test called high-throughput exome sequencing can find genetic causes of multiple birth defects in fetuses when standard exams fail. Researchers studied 100 fetuses with at least two malformations and no prior diagnosis. They compared the new test's results to usual methods to see if it could provide more answers.

What this could mean

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

Active substance
high-throughput exome sequencing
What this could lead to
If successful, this could show that exome sequencing is a better way to diagnose genetic causes of severe fetal malformations, helping future families get answers.
What could go wrong
This is a small, completed study focused on diagnosis, not treatment. It may not find new causes in all cases, and results may not apply to all populations.

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

100 people

The number who actually took part.

Started

Mar 2015

Finished

Oct 2018

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

Fetuses With at Least 2 Malformations, and no Diagnosis After Fetopathological and Radiological Examinations

Ages

Children (under 18), adults (18 to 64) and older adults (65 and over)

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: * Fetus with at least 2 malformations, with no diagnosis (or several low-certainty diagnostic hypotheses, which require several molecular examinations) after fetopathological and radiological examinations * Written consent from both parents * Possibility to obtain samples from both parents Exclusion Criteria: * Refusal of parents to take part in the study * Parents without National Health Insurance cover * Parents under guardianship or in custody * Impossibility to obtain samples from both parents * Diagnostic hypothesis considered highly probable for which a molecular test cheaper that HTES is available

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Conditions

The condition(s) this trial relates to.

developmental defect during embryogenesis

As listed by the trial registrant

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

Fetuses with at least 2 malformations, and no diagnosis after fetopathological and radiological examinations

Contacts and locations

Locations

  • CH de Mulhouse (Hôpital Emile Muller)

    Mulhouse, 68070, France

  • CHRU de Reims (Hôpital Maison Blanche)

    Reims, 51092, France

  • CHRU de Tours

    Tours, 37000, France

  • CHU Montpellier

    Montpellier, 34000, France

  • CHU de Clermont-Ferrand

    Clermont-Ferrand, 63000, France

  • CHU de DIJON

    Dijon, 21079, France

  • CHU de NANCY

    Vandœuvre-lès-Nancy, 54511, France

  • CHU de Rennes

    Rennes, 35203, France

  • CHU de Rouen

    Rouen, 76000, France

  • CHU de STRASBOURG (Hôpital Hautepierre)

    Strasbourg, 67098, France