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


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

Full Title of Study: “Research of Thymix Dysgenesis in Prenatal Examination of Deletion 22q11 Syndrome”

Study Type

  • Study Type: Observational
  • Study Design
    • Time Perspective: Prospective
  • Study Primary Completion Date: July 1, 2020

Arms, Groups and Cohorts

  • prenatal diagnosis of a fetal 22q11 deletion syndrome

Clinical Trial Outcome Measures

Primary Measures

  • Thymic thoracic ratio ” measurement on sonographic picture of the fetal 3 vessels slides will be done by independent investigator.
    • Time Frame: day 0

Participating in This Clinical Trial

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

Gender Eligibility: Female

Minimum Age: 18 Years

Maximum Age: N/A

Are Healthy Volunteers Accepted: No

Investigator Details

  • Lead Sponsor
    • Centre Hospitalier Universitaire de Nīmes
  • Provider of Information About this Clinical Study
    • Sponsor

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