Utility of Genetic Testing in Fetal Alcohol Spectrum Disorder

Article ID	Journal	Published Year	Pages	File Type
8812365	The Journal of Pediatrics	2018	6 Pages	PDF

Abstract

Genetic testing, especially CMA, should be considered in patients referred for evaluation of FASD, as a significant proportion have a clinically significant CNV even when they fulfill diagnostic criteria for FASD spectrum.

Keywords

CMA partial fetal alcohol syndrome ARND ARBD FASD PFAS FAS CNV VUS fetal alcohol spectrum disorder alcohol-related neurodevelopmental disorder developmental delay Chromosomal microarray analysis Fetal alcohol syndrome Copy number variants Variants of uncertain significance Copy number variant