Genetic testing using array comparative genomic hybridization may benefit newborns with congenital heart disease

Abstract

rray comparative genomic hybrid-ization (aCGH) should be offered as a first-tier genetic test in seriously ill newborns with congenital heart disease (CHD), according to a recent study.CHD is a birth defect that affects nearly 1% of live births and is frequently identified in surveillance programs [Reller et al., 2008]. Genetic factors often cause CHD, but newborns and older children with the condition who could benefit from genetic testing do not always receive it [Connor et al., 2013]. For patients with CHD in cardiac intensive care units (CICUs) who do, aCGH is preferable to chromosome analysis because it can detect more potential genetic causes, write researchers at the University of Pittsburgh in Pennsylvania [Bachman et al., 2013].In their study, Bachman and colleagues found that aCGH detected disease-causing mutations in 26.2% of 45 newborns with CHD admitted to the hospital’s CICU, while chromosome analysis found such mutations in just 9.4%, a difference of 22%. Additionally, aCGH testing detected 10 copy number variants that chromosome analysis did not.“Comparative genomic hybrid-ization has become our standard of care for babies with heart defects admitted to CICU,” says senior author Suneeta Madan-Khetarpal, Associate Professor of Pediatrics at the University of Pittsburgh School of Medicine.