Gene sequencing uncovers mysterious fetal malformations

NCT ID NCT02512354

Completed Knowledge-focused Sponsor: Centre Hospitalier Universitaire Dijon Source: ClinicalTrials.gov ↗

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.

Get updates

Get notified about this study

Sign up to get updates when this study changes or when new studies for FETUSES WITH AT LEAST 2 MALFORMATIONS, AND NO DIAGNOSIS AFTER FETOPATHOLOGICAL AND RADIOLOGICAL EXAMINATIONS are added.

Our safety recommendation!

By submitting, you agree to our Terms of use

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