New DNA test may solve mystery of fetal malformations

NCT ID NCT02512354

First seen Feb 17, 2026 · Last updated May 09, 2026 · Updated 9 times

Summary

This study tested a new DNA test called high-throughput exome sequencing on 100 fetuses with multiple birth defects whose cause was unknown after standard exams. The test looks at all the coding parts of DNA to find genetic causes. Researchers compared how many extra diagnoses this test made versus usual methods, using blood samples from both parents to help interpret results.

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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

Conditions

Explore the condition pages connected to this study.