Gene sequencing uncovers mysterious fetal malformations
NCT ID NCT02512354
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.
Disclaimer
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This is a summary of
the original study
.
Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.
This is a summary of the original study . Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.
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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
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Locations
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CH de Mulhouse (Hôpital Emile Muller)
Mulhouse, 68070, France
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CHRU de Reims (Hôpital Maison Blanche)
Reims, 51092, France
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CHRU de Tours
Tours, 37000, France
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CHU Montpellier
Montpellier, 34000, France
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CHU de Clermont-Ferrand
Clermont-Ferrand, 63000, France
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CHU de DIJON
Dijon, 21079, France
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CHU de NANCY
Vandœuvre-lès-Nancy, 54511, France
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CHU de Rennes
Rennes, 35203, France
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CHU de Rouen
Rouen, 76000, France
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CHU de STRASBOURG (Hôpital Hautepierre)
Strasbourg, 67098, France