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

Centre Hospitalier Universitaire de Nīmes

Status: Completed

Conditions: 22q11 Deletion Syndrome Di George Syndrome

Study type: Observational

Funder types: Other

Identifiers

NCT02890472

LOCAL/2015/EM-01

Details and patient eligibility

About

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

Enrollment: 13 patients

Sex: Female

Ages: 18+ years old

Volunteers: No Healthy Volunteers

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

Trial design

13 participants in 1 patient group

prenatal diagnosis of a fetal 22q11 deletion syndrome