Genetic evaluation of newborns with critical congenital heart defects admitted to the intensive care unit

Conclusion: MLPA is fast and cost-effective analysis that could be used as the first-tier test in newborns with critical CHD admitted to the ICU.What is Known:• MLPA is an established method for chromosome analysis in patients with CHD, but detection rate in newborns with critical CHD is unknown.What is New:• Study suggests that detection rate of casual variants using MLPA in newborns with critical CHD is 10%.
Source: European Journal of Pediatrics - Category: Pediatrics Source Type: research