When Ava was eight years old, her parents still did not know why she struggled with learning and coordination the way she did. Like many children diagnosed with fetal alcohol spectrum disorder (FASD), the answer had felt incomplete — a label without the full picture. But new research from Australia suggests that for some children like Ava, the missing piece may hide inside their DNA.
Scientists at an Australian clinic studied 175 children diagnosed with FASD between 2015 and 2022. Using a test called chromosomal microarray analysis, they looked closely at the childrens' genetic material for rare differences called copy number variants (CNVs), which are small sections of DNA that may be missing or duplicated. What they found surprised them: one in four of these children carried such rare CNVs. That is 25 percent — two and a half times higher than the 10 percent rate seen in the general population.
Even more striking, half of those rare genetic differences contained genes that are known to cause harm or could potentially cause harm. Some of these genes play roles in brain and nervous system development, while others relate to physical growth, immune function, or other developmental processes.
The study was published in the journal Alcohol: Clinical and Experimental Research. The authors argue that because these genetic differences show up so often in children with FASD, every child diagnosed with the condition should receive the same genetic test as a standard part of their care. This could give families clearer answers and help doctors spot other health issues that might need attention.
"These findings support the recommendation for chromosomal microarray analysis in all patients diagnosed with FASD," the researchers wrote, noting that identifying harmful CNVs could also guide family planning conversations and clinical care going forward.
FASD is a lifelong condition caused by alcohol exposure before birth. Not all children exposed to alcohol develop it, and scientists have long suspected that genetic factors — traits children inherit from their parents — may influence who is more vulnerable. This study strengthens that idea by showing that rare genetic variations appear far more frequently in children with FASD than in other children.
For families who have spent years searching for explanations, these findings offer a concrete path forward. A simple blood test could now become a routine part of diagnosing FASD, helping children get earlier, more complete support.