Children with FAS can now be identified earlier

17 October 2025

Until now, it has often been difficult to diagnose Fetal Alcohol Syndrome (FAS), a condition in children exposed to alcohol before birth. A reliable test now appears to be available for children with a severe form of this syndrome.

Researchers at Amsterdam UMC discovered a unique DNA pattern that is used in a now available laboratory test. "This allows us to better identify children with a severe form of FAS and provide them with the right treatment sooner," says research leader Peter Henneman of Amsterdam UMC.

The research team compared the blood cells of 93 children with FAS with those of healthy children and those of children with other rare conditions. They specifically looked at DNA methylation, chemical changes in the DNA chain that function like "on" and "off" switches. These on/off switches determine which genes are active and which are not, and thus which physical characteristics or functions are expressed.

The results showed that children with a severe form of FAS often have a specific pattern of DNA markers—a kind of fingerprint not found in other diseases. With this knowledge, doctors can now more quickly diagnose FAS.

A positive test result confirms the diagnosis of FAS. However, a negative result does not completely rule out FAS, as is the case with genetic testing for other conditions. Henneman: "Therefore, the test should always be used in combination with careful clinical examination to confirm the doctor's diagnosis."

Source: amsterdamumc.org.

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