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

• Conditions: Corpus Callosum Malformation; Prenatal Disorder

• Registration Number: NCT03680651
• Lead Sponsor: University Hospital, Brest

Brief 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.

Detailed Description

Not available

Study Timeline

• Status Verified: 2018-06
• Study Start: 2018-06-18
• Study First Submitted: 2018-08-30
• Study First Submitted QC: 2018-09-20
• Last Update Submitted: 2018-09-20
• Study First Posted: 2018-09-21
• Last Update Posted: 2018-09-21
• Primary Completion: 2018-12
• Study Completion: 2018-12

Recruitment & Eligibility

• Status: UNKNOWN
• Sex: All
• Target Recruitment: 275

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

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
frequency of chromosomal abnormalities	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 Outcome Measures

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

Trial Locations

Locations (1)

CHRU de Brest; 🇫🇷 Brest, France