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Speedy gene test aims to give answers on birth defects in just 7 days

NCT ID NCT06252415

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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 fast type of genetic test called rapid genome sequencing can find the cause of birth defects seen on ultrasound more quickly than current methods. Researchers included 184 pregnancies with certain ultrasound findings. The goal was to see if results could be delivered in less than 7 days and how often a genetic cause was found. This is a research study to gather information, not a treatment.

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

184 people

The number who actually took part.

Started

Mar 2024

Finished

Jul 2025

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 women and the biological father, eligible for the study, will be identified by an investigator at a genetic consultation dedicated to the proposal of prenatal CMA/ES within one of the rare disease reference centers of the AnDDI-Rares health and CPDPN networks declared in the study.

Ages

18 years and older

Sex

Anyone

Healthy volunteers

Accepted

You do not need to have the condition being studied to take part.

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: * Pregnancies (17 - 34 weeks of gestation (WG)) with US anomalies namely either i) two major anomalies, ii) one major and one minor anomalies, or iii) one anomaly (major or minor) with a strong suspicion of genetic cause (such as corpus callosum anomaly); * Couples for whom an etiological diagnosis could modify the pregnancy outcome and/or the pre and/or postnatal management; * Pregnant women who receive invasive prenatal sampling for ES+CMA; * Sufficient quantity of amniotic fluid to collect an additional sample for GS; * Possibility of blood samples from the pregnant woman and the biological father; * Written consent for genetic analysis from pregnant woman and biological father of foetus; * Provision of signed and dated of both parents' consent form for the study. For the exploratory qualitative objective/endpoint: \- A least one member of the couple willing to accept 2 telephone or video consultations, and able to speak and understand French. Exclusion Criteria: * Refusal of the pregnant woman or biological father to participate in the study; or refusal to collect blood samples from one or both parents; * Pregnancy before 17 WG or after 34 WG (to limit the risk of reporting results after birth); * Isolated increase nuchal translucency on ultrasound; * Couples for whom an etiological diagnosis would not modify the pregnancy outcome; * Pregnant woman and biological father not affiliated to a social security system or not beneficiaries of such a system; * Pregnant woman and/or biological father who are protected and unable to understand the protocol and express their consent; * Pregnant women and/or biological fathers under legal protection (guardianship, tutorship) or to a court order For the exploratory qualitative objective/endpoint: \- The two members of the couple unable to carry out two one-hour telephone interviews in French.

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Conditions

The condition(s) this trial relates to.

As listed by the trial registrant

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

Contacts and locations

Locations

  • Chu Dijon Bourgogne

    Dijon, 21000, France

More trials for these conditions

Other studies related to the condition(s) this trial covers.