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

NCT ID: NCT03680651

Last Updated: 2018-09-21

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

UNKNOWN

Total Enrollment

275 participants

Study Classification

OBSERVATIONAL

Study Start Date

2018-06-18

Study Completion Date

2018-12-31

Brief Summary

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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

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Conditions

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Corpus Callosum Malformation Prenatal Disorder

Study Design

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Observational Model Type

COHORT

Study Time Perspective

RETROSPECTIVE

Eligibility Criteria

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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
Minimum Eligible Age

18 Years

Maximum Eligible Age

55 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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University Hospital, Brest

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Locations

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CHRU de Brest

Brest, , France

Site Status RECRUITING

Countries

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France

Central Contacts

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Anne-Hélène Saliou, MD

Role: CONTACT

02 29 02 00 12

Charlotte Caille-Benigni, Resident

Role: CONTACT

06 50 22 85 93

Facility Contacts

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Anne-Hélène Saliou, MD

Role: primary

02 29 02 00 12

Charlotte Caille-Benigni, Resident

Role: backup

06 50 22 85 93

Other Identifiers

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AGMCC1318 (29BRC18.0123)

Identifier Type: -

Identifier Source: org_study_id

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