Rare chromosomal differences found in children with fetal alcohol spectrum disorder

A study published in Alcohol: Clinical and Experimental Research has revealed that one in four children diagnosed with fetal alcohol spectrum disorder (FASD) has rare chromosomal differences at significantly higher rates than the general population. Half of these chromosomal differences were associated with harmful or potentially harmful genetic variations.

The research, led by Suzy Byrnes and colleagues, recommends routine chromosomal microarray analysis for all FASD patients to provide a more comprehensive clinical diagnosis and identify opportunities for improved medical management. Fetal alcohol spectrum disorder, caused by prenatal alcohol exposure, is a lifelong condition characterized by severe neurodevelopmental impairment and various differences.

Genetic factors contribute to susceptibility, with chromosomal variations in copy number variants (CNVs) playing a role. The study, which examined 175 Australian children diagnosed with FASD between 2015 and 2022, identified rare CNVs in a quarter of the cases. Half of these rare CNVs contained potentially pathogenic genes, affecting central nervous system function and multiple systems.

Given the high prevalence of clinically significant rare CNVs, the authors advocate for chromosomal microarray testing as a routine first-tier genetic screening for FASD patients, along with genetic consultation to support family planning and clinical recommendations.