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

Prenatal Disorder Clinical Trial

— AGMCC1318  

Official title:

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT03680651
• Other study ID #: AGMCC1318 (29BRC18.0123)
• Status: Recruiting
• Start date: June 18, 2018
• Est. completion date: December 2018

Study information

• Verified date: June 2018
• Source: University Hospital, Brest
• Contact: Anne-Hélène Saliou, MD
• Phone: 02 29 02 00 12
• Email: anne-helene.saliou[@]chu-brest.fr
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 275
• Est. completion date: December 2018
• Est. primary completion date: December 2018
• Accepts healthy volunteers: No
• Gender: All
• Age group: 18 Years to 55 Years

Eligibility

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

Related Conditions & MeSH terms

• Congenital Abnormalities
• Corpus Callosum Malformation
• Prenatal Disorder

Locations

Country	Name	City	State
France	CHRU de Brest	Brest

Sponsors (1)

Lead Sponsor	Collaborator
University Hospital, Brest

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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	Type of chromosomal abnormalities	Describe the type of chromosomal abnormalities associated with a prenatal diagnosis of corpus callosum agenesis and thus identify recurrent copy number variations.	6 months