Diagnosis

Any patient with two or more features suggesting DCS or VCF should be investigated for chromosome 22qll-qter deletions through high resolution chromosomal studies that include FISH probe analysis at the Shprintzen/DiGeorge locus. This is especially true for infants with conotruncal cardiac malformations. While less than 1% of infants with isolated tetralogy of Fallot are found to have microdelctions on chromosome 22q, more than 40% will be positive for a deletion when additional dysmorphic features are present. If a deletion is found, the parents' chromosomes should also be investigated, even when neither mother nor father appears to be affected. If a deletion is present in a parent the risk of a recurrence in a subsequent pregnancy approaches 50%. In the absence of a parental deletion, recurrence risks for DGS/VCF are low, but not negligible, due to the potential for parental gonadal mosaicism. Cytogenetic prenatal diagnosis should be offered in subsequent pregnancies regardless of parental karyotype. In cases lacking micro-deletions, further investigation of parathyroid and thymic hypoplasia can be deferred in the absence of symptoms. In chromosomally normal cases involving congenital heart disease, subsequent pregnancies should be monitored by fetal ultrasonography and ech oca rdiography.

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