Prenatal Examination of Deletion 22q11 Syndrome : Thymic Dysgenesis THYMI Study
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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
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Layout table for eligibility information
Ages Eligible for Study:
18 Years and older (Adult, Older Adult)
Sexes Eligible for Study:
Accepts Healthy Volunteers:
prenatal diagnosis of a fetal 22q11 deletion syndrome
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.