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

Status

UNKNOWN

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT03680651

Acronym

AGMCC1318

Enrollment

275

Registered

2018-09-21

Start date

2018-06-18

Completion date

2018-12-31

Last updated

2018-09-21

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Corpus Callosum Malformation, Prenatal Disorder

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.

Interventions

None listed

Study design

Observational model

COHORT

Time perspective

RETROSPECTIVE

Eligibility

Sex/Gender

ALL

Age

18 Years to 55 Years

Healthy volunteers

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

Design outcomes

Primary

Measure	Time frame	Description
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

Measure	Time frame	Description
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.

Countries

France

Contacts

Primary ContactAnne-Hélène Saliou, MD

anne-helene.saliou@chu-brest.fr02 29 02 00 12

Backup ContactCharlotte Caille-Benigni, Resident

charlotte.caillebenigni@chu-brest.fr06 50 22 85 93

Outcome results