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

C

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

Trial contacts and locations

1

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Data sourced from clinicaltrials.gov

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