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

NCT03680651 | Unknown

• 1 other identifier: AGMCC1318 (29BRC18.0123)
• Study Type: observational
• Target: 275
• Locations: 1 country
• Sites: 1

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.

Conditions

Corpus Callosum Malformation; Prenatal Disorder

Outcome Measures

Primary Outcomes (1)

• frequency of chromosomal abnormalities

  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.

  6 months

Secondary Outcomes (1)

• Type of chromosomal abnormalities

  6 months

Eligibility Criteria

• Age: 18 Years - 55 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

Fetuses with prenatal diagnosis of corpus callosum malformation and antenatal molecular analysis by array CGH performed

You may qualify if:

• 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

You may not qualify if:

• No amniocentesis performed
• Refusing to participate

Sponsors & Collaborators

• University Hospital, Brest: lead

Study Sites (1)

CHRU de Brest

Brest, 29200, France

RECRUITING

MeSH Terms

Conditions

Agenesis of Corpus Callosum

Condition Hierarchy (Ancestors)

Nervous System Malformations; Nervous System Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Anatomical; Pathological Conditions, Signs and Symptoms

Central Study Contacts

Anne-Hélène Saliou, MD

CONTACT

02 29 02 00 12; anne-helene.saliou@chu-brest.fr

Charlotte Caille-Benigni, Resident

CONTACT

06 50 22 85 93; charlotte.caillebenigni@chu-brest.fr

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: August 30, 2018
• First Posted: September 21, 2018
• Study Start: June 18, 2018
• Primary Completion: December 1, 2018
• Study Completion: December 1, 2018
• Last Updated: September 21, 2018

Record last verified: 2018-06

Locations

FR (1)