Whole Exome Sequencing in Prenatal Diagnosis of Agenesis of the Corpus Callosum

NCT03600792 | Completed

• 1 other identifier: NI18011J
• Study Type: observational
• Target: 31
• Locations: 1 country
• Sites: 1

Brief Summary

Agenesis of the corpus callosum (ACC) is one of the most frequent cerebral malformations and is now diagnosed prenatally in most cases. Prenatal counseling is then challenging because of uncertain neurodevelopmental outcome, depending on the genetic cause of ACC. Our purpose is to evaluate the feasibility of sequencing known genes responsible for ACC by whole exome sequencing (WES) in trio (fetus and both parents) when ACC is diagnosed during the pregnancy, in order to provide complete and loyal information on the intellectual prognosis for the fetus.

Conditions

Fetal Agenesis of the Corpus Callosum (ACC)

Keywords

Agenesis of the corpus callosum; whole exome sequencing; prenatal diagnosis

Outcome Measures

Primary Outcomes (1)

• Technical success

  Rate of technical success

  5th week post diagnosis

Secondary Outcomes (5)

• Genetic diagnosis

  5th week post diagnosis

• Technical failure

  up to 4 months

• Delay to genetic diagnosis Result

  up to 4 months

• Parents decision to continue pregnancy

  up to 4 months

• Parents decision to interrupt pregnancy

  up to 4 months

Interventions

whole exome sequencing (WES) GENETIC

WES analysis will be performed in the "UF de Génomique du Développement" (APHP, Pitié-Salpêtrière hospital), using DNA extracted from amniotic fluid for the foetus (also used for chromosomal studies) and DNA extracted from peripheral blood for both parents. There will be no supplemental invasive sampling for this study. The result of WES will be returned during a consultation with the geneticist and the associated prognosis will be explained in case of molecular diagnosis

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

30 trios (fetus and both parents) with confirmed diagnosis of fetal ACC during the 2nd or 3rd trimesters of pregnancy and who wish to perform molecular prenatal sequencing by WES.

You may qualify if:

• Age ≥ 18 years old
• ACC diagnosed prenatally during the 2nd trimester of pregnancy, confirmed by ultrasound by a referee
• Fetal sample (amniotic fluid, 10 ml) et blood samples of both parents (2 tubes of 5 ml EDTA)
• Covered by social security
• Written consent obtain for routine and research genetic analysis

You may not qualify if:

• Refusal to participate from one or both parents
• Pregnancies obtained with gamete donation (trio sequencing not feasible)
• If one parent is not available (trio sequencing not feasible)
• Inability to understand the given information
• One or both parents under juridical protection

Sponsors & Collaborators

• Assistance Publique - Hôpitaux de Paris: lead

Study Sites (1)

Groupe Hospitalier Pitié-Salpêtrière

Paris, 75013, France

Location

MeSH Terms

Conditions

Agenesis of Corpus Callosum

Interventions

Exome Sequencing

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

Intervention Hierarchy (Ancestors)

Whole Genome Sequencing; Sequence Analysis, DNA; Sequence Analysis; Genetic Techniques; Investigative Techniques

Study Officials

• Héron Delphine, MD

  APHP

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: FAMILY BASED
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: June 10, 2018
• First Posted: July 26, 2018
• Study Start: August 28, 2018
• Primary Completion: October 19, 2019
• Study Completion: October 19, 2019
• Last Updated: January 19, 2021

Record last verified: 2021-01

Locations

FR (1)