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Aurora magazine

A genetic test for the diagnosis of fetal alcohol syndrome

A team of Canadian researchers has developed a genetic test to identify fetal alcohol syndrome. The test uses DNA methylation and serves to facilitate diagnosis in the absence of obvious symptoms. In some cases, in fact, the child does not show any physical sign of disorder while suffering from it.

Fetal alcohol syndrome is linked to alcohol consumption during pregnancy. Causes physical alterations, behavioral problems and cognitive deficits. Many affected individuals show obvious malformations and problems in the central nervous system. In the presence of these symptoms, the sad diagnosis is early and almost obvious. Nevertheless, it is much more difficult to identify the disorder in those who show behavioral symptoms without physical malformations.

An early diagnosis of fetal alcohol syndrome is essential to ensure effective treatment. Unfortunately, consumption of alcohol during pregnancy is often underestimated. In case of doubtful diagnosis, therefore, interviewing the mother is only partially useful. For this reason, a Canadian team used DNA analysis to facilitate the diagnosis of the disorder.

The researchers analyzed the DNA of 48 individuals, 24 affected by the syndrome and 24 no. Patients were between 3 and 18 years. They focused on epigenetic changes, which affect DNA methylation. They identified a series of changes related to prenatal alcohol exposure and related to fetal alcohol syndrome.

The results of the study will allow to use epigenetic biomarkers to diagnose fetal alcohol syndrome. In this way it will be easier to guarantee an effective and early treatment for those who suffer from it.