Infants With Agenesis of the Corpus Callosum (DACCI)

Outcome of Infants With Prenatal Corpus Callosum Agenesis

The purpose of this study is to assess the neurological development at three years of age of children born after prenatal diagnosis of "isolated" agenesis of the corpus callosum.

Study Overview

• Status: Completed
• Conditions: Agenesis of the Corpus Callosum
• Intervention / Treatment: Other: Psychometric scales for infants at 3 years of age

Detailed Description

Agenesis of the corpus callosum is the most frequent brain malformation. This anomaly may be diagnosed by ultrasound screening. In half of these prenatal cases, the anomaly seems to be isolated. In this setting, there are no prospective data concerning the development of these children, preventing any clear information to be delivered to parents. Prenatal diagnostic centers therefore face extremely variable rates of termination of pregnancies (TOP), which can reach up to 80%.

This is a multicentric prospective interventional study whose primary objective is to assess the neurological development at three years of age of children born after prenatal diagnosis of "isolated" agenesis of the corpus callosum.

Evaluation at three years will include Intellectual Quotient (IQ) quantification using the WPPSI-III, 3rd edition of Wechsler Preschool and Primary Scale of Intelligence and evaluation of intra-hemispheric coordination using the Vineland adaptative behaviour scale.

Secondary objectives will include:

• Circumstances leading to the prenatal diagnosis of agenesis of the corpus callosum
• Causes leading to termination of pregnancies
• Determination of criteria allowing to confirm that agenesis of the corpus callosum is isolated (family history, imagery, genetics)

These results could allow to determine the optimal prenatal management of such cases.

• Study Type: Interventional
• Enrollment (Actual): 72
• Phase: Not Applicable

Contacts and Locations

Study Locations

• France
  • Paris, France, 75012
    • Hôpital Armand Trousseau

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: No

Description

Inclusion Criteria:

• Pregnant women from 28 weeks of gestation
• Complete agenesis of the corpus callosum
• Partial agenesis of the corpus callosum
• Abnormal corpus callosum (size, anatomy) As diagnosed by an expert ultrasound fetal brain examination.

Exclusion Criteria:

• age < 18 years old
• women who do not understand french
• women not covered by the French social security system
• refusal to participate

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Screening
• Allocation: N/A
• Interventional Model: Single Group Assignment
• Masking: None (Open Label)

Number of Arms

1

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Experimental: neuropsycological tests; Psychometric scales for infants at 3 years of age	Other: Psychometric scales for infants at 3 years of age; WPPSI-III, VINELAND, CBCL, NEPSY

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
WPPSI-III (wechsler preschool and primary scale of intelligence) :evaluation of intellectual quotient ( questionnaire)	Neurodevelopment outcome	3 years

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Vineland adaptative behaviour scales (motricity capacity) : questionnaire	Neurodevelopment outcome	3 years
Nepsy : developmental neuropsychological assessment (capacity of coordination)	Neurodevelopment outcome	3 years
CBCL: Child Behavior Checklist (behaviour) : self administered questionnaire	Neurodevelopment outcome	3 years
Cerebral abnormalities		up to 3 years

Collaborators and Investigators

• Sponsor: Assistance Publique - Hôpitaux de Paris
• Collaborators: URC-CIC Paris Descartes Necker Cochin
• Investigators: Principal Investigator: Jean-Marie Jouannic, MD, PhD, Assistance Publique - Hôpitaux de Paris

Publications and helpful links

General Publications

• Sotiriadis A, Makrydimas G. Neurodevelopment after prenatal diagnosis of isolated agenesis of the corpus callosum: an integrative review. Am J Obstet Gynecol. 2012 Apr;206(4):337.e1-5. doi: 10.1016/j.ajog.2011.12.024. Epub 2011 Dec 27.
• Moutard ML, Kieffer V, Feingold J, Lewin F, Baron JM, Adamsbaum C, Gelot A, Isapof A, Kieffer F, de Villemeur TB. Isolated corpus callosum agenesis: a ten-year follow-up after prenatal diagnosis (how are the children without corpus callosum at 10 years of age?). Prenat Diagn. 2012 Mar;32(3):277-83. doi: 10.1002/pd.3824.
• Moutard ML, Kieffer V, Feingold J, Kieffer F, Lewin F, Adamsbaum C, Gelot A, Campistol I Plana J, van Bogaert P, Andre M, Ponsot G. Agenesis of corpus callosum: prenatal diagnosis and prognosis. Childs Nerv Syst. 2003 Aug;19(7-8):471-6. doi: 10.1007/s00381-003-0781-6. Epub 2003 Jul 4.

Study record dates

Study Major Dates

• Study Start (Actual): September 26, 2015
• Primary Completion (Actual): October 1, 2020
• Study Completion (Actual): January 11, 2022

Study Registration Dates

• First Submitted: July 17, 2014
• First Submitted That Met QC Criteria: October 14, 2014
• First Posted (Estimated): October 17, 2014

Study Record Updates

• Last Update Posted (Actual): March 31, 2026
• Last Update Submitted That Met QC Criteria: March 26, 2026
• Last Verified: March 1, 2026

More Information

Terms related to this study

• Keywords: prenatal diagnosis; agenesis; corpus callosum
• Additional Relevant MeSH Terms: Nervous System Diseases; Pathological Conditions, Anatomical; Congenital Abnormalities; Nervous System Malformations; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms; Agenesis of Corpus Callosum; Physiological Phenomena; Growth and Development; Aging
• Other Study ID Numbers: K151004; 2014-A00625-42 (Other Identifier: ID-RCB)