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

NCT03680651 · Status: UNKNOWN · Type: OBSERVATIONAL · Enrollment: 275

Last updated 2018-09-21

No results posted yet for this study

Summary

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.

Conditions

  • Corpus Callosum Malformation
  • Prenatal Disorder

Sponsors & Collaborators

  • University Hospital, Brest

    lead OTHER

Eligibility

Min Age
18 Years
Max Age
55 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2018-06-18
Primary Completion
2018-12-31
Completion
2018-12-31

Countries

  • France

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT03680651 on ClinicalTrials.gov