Is Array-Comparative Genomic Hybridization Useful for Children with Apparently Isolated Congenital Anomalies?

Abstract

To consider the utility of array-comparative genomic hybridization patients with apparently isolated congenital anomalies, 109 patients whose indication for testing was a birth defect without other concerns about syndromes or intellectual disability were selected from 1766 analyses conducted from 2009 to 2017. Twenty-nine had copy number variants more likely to contribute to the birth defect and another 80 were potentially contributory. Defects of the central nervous (23 patients), cardiovascular (20), digestive (19), and pulmonary (9) systems predominated with some high prevalence variants, traditionally reported as benign, recurring in particular anomaly cases. This small number of anomaly-associated copy number variants does not provide a definitive answer to the title question.  However, the value of further studies is supported by consideration of the polygenic inheritance/multifactorial determination of congenital malformations, their derivation from common developmental fields, and their possible prediction by determination of copy number variant profiles.