Can rapid gene tests spot fetal problems sooner?
NCT ID NCT03964441
First seen Jun 25, 2026 · Last updated Jun 27, 2026 · Updated 1 time
Summary
This study explores whether a fast type of genome sequencing can help diagnose genetic conditions in fetuses with ultrasound abnormalities. Researchers will take samples from 149 pregnant women and their partners to analyze fetal DNA. The goal is to see if this approach can provide quicker and more detailed results than current methods.
What this could mean
Our plain-language read of the trial. This is informational only, not medical advice or a prediction.
- What this could lead to
- If successful, this could show that rapid genome sequencing is feasible in prenatal care, potentially improving diagnosis of genetic conditions during pregnancy.
- What could go wrong
- This is a small feasibility study, not a treatment trial. It may not lead to immediate clinical changes, and results may not apply to all pregnancies.
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Study facts
What this study's own registry entry says, in plain language.
- Participants
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149 people
The number who actually took part.
- Started
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Jun 2019
- Finished
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Jan 2024
- 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 with antenatal discovery of at least two obstetrical ultrasound abnormalities
- Ages
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18 years and older
- Sex
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Female participants only
- Healthy volunteers
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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 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: * Pregnant women with antenatal discovery of at least two obstetric ultrasound abnormalities (2 major malformations, or 1 major malformation and 1 minor malformation, or 1 isolated malformation with a high probability of a genetic condition) : who undergo invasive antenatal sampling for CGH-array diagnosis ; who has already had an invasive antenatal sampling for the diagnosis of CGH-array and for which the fetal CGH-array has been found to be normal (sufficient fetal DNA or amniotic fluid should be available to allow exome sequencing to be performed without further amniotic fluid puncture). * Pregnant woman and father aged 18 years or more * Written consent provided by the pregnant woman and the father of the fetus * Possibility of sufficient fetal specimen (amniotic fluid or fetal blood) to collect an additional sample for the pilot project * Possibility of sampling the pregnant woman and the father of the foetus (peripheral blood) * Pregnant woman and father of the fetus able to understand the study Pilot Organizational Study: In addition to the inclusion \& exclusion criteria of the main study: * Pregnant woman and biological father of fetus who provided oral consent to be interviewed * Professionals (obstetrician, midwife, geneticist, biologist) agreeing to be interviewed Exclusion Criteria: * Diagnostic hypothesis considered highly probable that can be confirmed by an available molecular or cytogenetic test with a lower cost than ES (e. g. 22q11 microdeletion) or high suspicion of fetal infection (e. g. toxoplamosis seroconversion) * Refusal of pregnant woman or father of fetus to participate in the study * Pregnancy earlier than 15 weeks of amenorrhea or later than 34 weeks of amenorrhea * Pregnant woman and father of the foetus not covered by the national health insurance system * Pregnant woman and/or father of the fetus under partial judicial protection
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Genom att skicka in godkänner du våra Användarvillkor
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, 21079, France
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