Frequency and Type of Genetic Abnormalities Found in Antenatal Corpus Callosum Malformation

Overview

Corpus callosum malformation (CCM) is the most frequently detected cerebral defect diagnosed in the prenatal setting. The most common CCM is corpus callosum agenesis (CCA) which is found in 2 to 3% of patients presenting with intellectual disability. When CCM is diagnosed, the risk of chromosomal disorder is estimated to be 16%, be it aneuploidy such as trisomy 18, trisomy 13 or mosaic trisomy 8, or a chromosome structure anomaly, copy number variation or more complex rearrangement In France, since 2013 oligoarray-based comparative genomic hybridization (aCGH) analysis is performed in the prenatal period for most malformations after approval by a multidisciplinary prenatal diagnosis ethics committee (Centre Pluridisciplinaire de Diagnostic Prénatal, CPDPN) . However, to date only a few studies have been published which report recurrent Copy Number Variations (CNV) associated with CCM and estimate the risk for a chromosomal disorder, thus making counseling difficult in this context of prenatal diagnosis.

Study Type

  • Study Type: Observational
  • Study Design
    • Time Perspective: Retrospective
  • Study Primary Completion Date: December 2018

Clinical Trial Outcome Measures

Primary Measures

  • frequency of chromosomal abnormalities
    • Time Frame: 6 months
    • The main objective is to describe the frequency of chromosomal abnormalities associated with a prenatal diagnosis of corpus callosum agenesis in the hope of improving genetic counseling.

Secondary Measures

  • Type of chromosomal abnormalities
    • Time Frame: 6 months
    • Describe the type of chromosomal abnormalities associated with a prenatal diagnosis of corpus callosum agenesis and thus identify recurrent copy number variations.

Participating in This Clinical Trial

Inclusion Criteria

  • Prenatal diagnosis of corpus callosum malformation, isolated or not, between 01/01/2013, and 31/05/2018 – Fetal DNA available – Mother's informed consent obtained Exclusion Criteria:

  • No amniocentesis performed – Refusing to participate

Gender Eligibility: All

Minimum Age: 18 Years

Maximum Age: 55 Years

Are Healthy Volunteers Accepted: No

Investigator Details

  • Lead Sponsor
    • University Hospital, Brest
  • Provider of Information About this Clinical Study
    • Sponsor
  • Overall Contact(s)
    • Anne-Hélène Saliou, MD, 02 29 02 00 12, anne-helene.saliou@chu-brest.fr

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