22q11 Deletion Syndrome Di George Syndrome Clinical Trial
Official title:
Research of Thymix Dysgenesis in Prenatal Examination of Deletion 22q11 Syndrome
| Verified date | January 2021 |
| Source | Centre Hospitalier Universitaire de Nimes |
| Contact | n/a |
| Is FDA regulated | No |
| Health authority | |
| Study type | Observational |
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
| Status | Completed |
| Enrollment | 13 |
| Est. completion date | December 31, 2020 |
| Est. primary completion date | July 1, 2020 |
| Accepts healthy volunteers | No |
| Gender | Female |
| Age group | 18 Years and older |
| Eligibility | 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 |
| Country | Name | City | State |
|---|---|---|---|
| France | CHUNimes | Nîmes |
| Lead Sponsor | Collaborator |
|---|---|
| Centre Hospitalier Universitaire de Nimes |
France,
| Type | Measure | Description | Time frame | Safety issue |
|---|---|---|---|---|
| Primary | Thymic thoracic ratio " measurement on sonographic picture of the fetal 3 vessels slides will be done by independent investigator. | day 0 |