Speedy gene test aims to give answers on birth defects in just 7 days
NCT ID NCT06252415
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.
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Study facts
What this study's own registry entry says, in plain language.
- Participants
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184 people
The number who actually took part.
- Started
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Mar 2024
- Finished
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Jul 2025
- Lead sponsor
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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
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18 years and older
- Sex
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Anyone
- Healthy volunteers
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Accepted
You do not need to have the condition being studied to take part.
Show the full entry requirements Hide 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
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Chu Dijon Bourgogne
Dijon, 21000, France
More trials for these conditions
Other studies related to the condition(s) this trial covers.