Prenatal Examination of Deletion 22q11 Syndrome : Thymic Dysgenesis THYMI Study

NCT ID: NCT02890472

Last Updated: 2021-01-27

Basic Information

• Recruitment Status: COMPLETED
• Total Enrollment: 13 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2017-10-01
• Study Completion Date: 2020-12-31

Brief Summary

22q11.2 microdeletion seems the prenatally under-diagnosed . Indeed , there is a mismatch between the series on the heart rate of 22q11.2 antenatal 84% against 30% in the adult series despite a perinatal mortality of 16% suggesting opportunities for improvement in the prenatal diagnosis of fetus with a microdeletion 22q11.2 , especially without heart disease

Conditions

22q11 Deletion Syndrome Di George Syndrome

Study Design

• Observational Model Type: COHORT
• Study Time Perspective: PROSPECTIVE

Study Groups

prenatal diagnosis of a fetal 22q11 deletion syndrome

No interventions assigned to this group

Eligibility Criteria

Inclusion Criteria

• all prenatal diagnosis with FISH or CGH array of a fetal 22q11 deletion syndrome during the inclusion period.
• The pregnancy follow-up should be done one of the 44 french fetal medicine unit.
• Sonographic picture of 3 vessels slides should be communicated for independent review.

Exclusion Criteria

• no sonographic picture available

• Minimum Eligible Age: 18 Years
• Eligible Sex: FEMALE
• Accepts Healthy Volunteers: No

Sponsors

Centre Hospitalier Universitaire de Nīmes

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Locations

CHUNimes

Nîmes, , France

Countries

France

Other Identifiers

LOCAL/2015/EM-01

Identifier Type: -

Identifier Source: org_study_id