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

Research of Thymix Dysgenesis in Prenatal Examination of Deletion 22q11 Syndrome

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

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