engleski

Major congenital malforamtions and 22q11.2 microdeletion

Background: Congenital heart defects (CHD) are the most common of all human birth defects occurring in 1% of live births. Previous studies suggest that a number of patients with congenital heart disease have a 22q11.2 deletion syndrome (22q11.2 DS). Orofacial clefts are also among the most common major congenital anomalies and are included in the 22q11.2 clinical spectrum. The clinical phenotype of 22q11.2 DS is highly variable. Patients with mild clinical manifestations and apparently isolated malformation can be easily overlooked. Objective: To determine should the 22q11.2 deletion analysis become a part of the standardized diagnostic workup for CHD and orofacial clefts. Methods and patients: A consecutive series of one hundred twenty-two patients with two selected major malformations, CHD (64 patients) and orofacial clefts (58 patients) were prospectively enrolled into the study and screened for the presence of a 22q11 deletion. Detailed clinical evaluation, high-resolution chromosome and FISH analysis were performed. Results: Deletions at 22q11.2 were detected in 9.4% (6/64) patients with CHD. In the subgroup of patients with conotruncal anomalies, 22q11.2 deletion was present in 17.8% (5/28) patients. None of the 58 patients with palatal abnormalities had a deletion. Conclusions: Testing is recommended for patients with conotruncal heart defects, because a substantial proportion has a 22q11.2 deletion. Deletion testing of children with other cardiac defects should be considered in the presence of additional features of 22q11.2 DS. A routine screening for the 22q11.2 deletion in children with isolated palatal anomalies may not be justified.

major congenital malformations; 22q11.2 microdeletion

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