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

Completed
Conditions
22q11 Deletion Syndrome Di George Syndrome
Registration Number
NCT02890472
Lead Sponsor
Centre Hospitalier Universitaire de Nīmes
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

Detailed Description

Not available

Recruitment & Eligibility

Status
COMPLETED
Sex
Female
Target Recruitment
13
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

Study & Design

Study Type
OBSERVATIONAL
Study Design
Not specified
Primary Outcome Measures
NameTimeMethod
Thymic thoracic ratio " measurement on sonographic picture of the fetal 3 vessels slides will be done by independent investigator.day 0
Secondary Outcome Measures
NameTimeMethod

Trial Locations

Locations (1)

CHUNimes

🇫🇷

Nîmes, France

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