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

Centre Hospitalier Universitaire de Nīmes13 enrolled

Overview

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

Study Type

OBSERVATIONAL

Enrollment

Conditions

22q11 Deletion Syndrome Di George Syndrome

Eligibility

Sex: FEMALEMin age: 18 Years

Medical Language ↔ Plain English

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

Locations (1)

CHUNimes

Nîmes, France

Outcomes

Primary Outcomes

Thymic thoracic ratio " measurement on sonographic picture of the fetal 3 vessels slides will be done by independent investigator.

Time frame: day 0

Data from ClinicalTrials.gov

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