[Absent or hypoplastic thymus: A marker for 22q11.2 microdeletion syndrome in case of XXXX ].

@entity509 @entity154 @entity2978 @entity299
OBJECTIVES: In prenatal diagnosis of 22q11.2 microdeletion syndrome, without @entity299 or multiple associated @entity154 , we study the presence of @entity2978 and its association with thymic dysgenesis. MATERIALS AND METHODS: This was a multicenter retrospective observational study. It was performed in two multidisciplinary centers for prenatal diagnosis in the south of France between January 1, 2010 and June 30, 2013. Inclusion criteria were prenatal diagnosis of 22q11.2 deletion syndrome. We excluded from the study any fetus with @entity299 or multiple associated @entity154 . RESULTS: During the inclusion period, eleven antenatal diagnoses of 22q11.2 microdeletion syndrome have been made. Six cases were excluded: 5  fetuses with @entity299 and one with multiple associated @entity154 . Therefore, five cases of isolated @entity2978 were included. All 5  fetuses had a thymic dysgenesis: 3 had a thymic agenesis and 1  thymic @entity509 diagnosed by sonography and 1 had a thymic agenesis diagnosed by retrospective reading of fetal MRI. CONCLUSION: When faced with a @entity2978 , the presence of a thymic dysgenesis should be search for by ultrasound screening and would alert to the possibility of a 22q11.2 microdeletion syndrome. The confirmation of this is diagnosis by amniocentesis would enable improved antenatal support for parents and would enable early implementation of the multidisciplinary neonatal care that is required to avoid serious complications of this syndrome.
