CompletedNot Applicable

Whole Exome Sequencing in Prenatal Diagnosis of Agenesis of the Corpus Callosum

France31 participantsStarted 2018-08-28

Plain-language summary

Agenesis of the corpus callosum (ACC) is one of the most frequent cerebral malformations and is now diagnosed prenatally in most cases. Prenatal counseling is then challenging because of uncertain neurodevelopmental outcome, depending on the genetic cause of ACC. Our purpose is to evaluate the feasibility of sequencing known genes responsible for ACC by whole exome sequencing (WES) in trio (fetus and both parents) when ACC is diagnosed during the pregnancy, in order to provide complete and loyal information on the intellectual prognosis for the fetus.

Who can participate

Age range18 Years

SexALL

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Inclusion Criteria: * Age ≥ 18 years old * ACC diagnosed prenatally during the 2nd trimester of pregnancy, confirmed by ultrasound by a referee * Fetal sample (amniotic fluid, 10 ml) et blood samples of both parents (2 tubes of 5 ml EDTA) * Covered by social security * Written consent obtain for routine and research genetic analysis Exclusion Criteria: * Refusal to participate from one or both parents * Pregnancies obtained with gamete donation (trio sequencing not feasible) * If one parent is not available (trio sequencing not feasible) * Inability to understand the given information * One or both parents under juridical protection

What they're measuring

Technical success

Timeframe: 5th week post diagnosis

Trial details

NCT IDNCT03600792

SponsorAssistance Publique - Hôpitaux de Paris

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2019-10-19

View on ClinicalTrials.gov More Fetal Agenesis of the Corpus Callosum (ACC) trials