Diagnosis of Fetal Alcohol Spectrum Disorders

Background: In Europe, up to 30% of all pregnant women consume alcohol. Alcohol related damages of the child are summarized as fetal alcohol spectrum disorders (FASD). The full picture fetal alcohol syndrome (FAS) is estimated to occur in 8 of 1,000 births. The patients with FASD are in large part diagnosed wrongly for a long time and get the right diagnosis late in childhood or even adulthood.

Methods: Fetal alcohol syndrome can be diagnosed by means of the German S3-guideline. The diagnostic criteria were determined based on the evidence assessed literature and on the consensus of the multidisciplinary guideline group (relevant professional societies, patient support group FASD Germany, and other FAS experts). The other fetal alcohol spectrum disorders can be diagnosed with the aid of a Canadian guideline which is based on long-time clinical experience. The evidence of the previous literature is not sufficient enough to give methodologically objective evidence-based recommendations for FASD.

Results: In children and adolescents with FASD, four diagnostic columns are relevant: (1) growth deficits, (2) facial characteristics, (3) abnormalities of the central nervous system), and (4) maternal alcohol use during pregnancy. For the diagnosis of FAS at least one deficit of growth, three defined facial anomalies, and at least one structural or functional abnormality of the CNS should be present. The maternal alcohol consumption does not have to be confirmed. For the diagnosis of partial fetal alcohol syndrome (pFAS), at least two of the three defined facial anomalies and at least three abnormalities of the CNS as well as the confirmation of maternal alcohol use should be existent. Alcohol-related neurodevelopmental disorder (ARND) can be diagnosed if at least three abnormalities of the CNS are present and intrauterine alcohol exposure is confirmed. The diagnosis of alcohol-related birth defects should be made with caution and always requires the confirmation of alcohol use during pregnancy.

Conclusion: The diagnosis of the fetal alcohol spectrum disorders remains a medical and psychological challenge. Guideline recommendations facilitate the clinical diagnostic process. The impairment of functions and everyday life can be influenced positively by early diagnosis and individual support of the patient.