Application of chromosome microarray analysis in neonatal birth defects / 中华实用儿科临床杂志

ABSTRACT

Objective@#To explore the application of chromosomal microarray analysis (CMA) in neonatal birth defects and further determine the frequency of chromosome imbalances in neonates with birth defects.@*Methods@#Retrospective analysis was performed in 121 neonates with specific features, such as distinctive facial features, congenital heart disease, congenital malformation, neonatal decreased responsive, hypotonia, seizures and others at the Department of Neonatology, Guangdong Women and Children Hospital from May 2016 to November 2017.All the cases were analyzed by using chromosomal microarray analysis (CMA).@*Results@#A total of 23 (19.0%) patients were identified with pathogenic CNVs, 3 patients (2.5%) with uncertain clinical significant CNVs.There were 5 patients (4.1%)with chromosome numerical abnormalities, 12 patients (9.9%)with microdeletion/microduplication syndrome, 6 patients (5.0%) with chromosome deletion or duplication.All groups whose incidence was sorted from high to low were facial characters(30.3%), congenital malformation(21.6%), neonatal decreased responsive(9.1%) and other indications(6.7%).@*Conclusions@#CMA is a valuable clinical diagnostic tool that allows precise identification of chromosome imbalances as the cause of birth defects in neonates.CMA can detect many more clinically relevant genomic abnormalities than conventional cytogenetic study and assist the clinician in diagnosis, early neonatal intervention, and genetic counseling.