Fetal alcohol spectrum disorders – Diagnostic difficulties in the neonatal period and new diagnostic approaches

Fetal alcohol spectrum disorders (FASD) is a group of disorders that can occur in children whose mothers consumed alcohol in pregnancy.

Diagnosis of fetal alcohol syndrome is based on the appearance of growth deficiency, the presence of the three key features of facial dysmorphism (short palpebral fissures, thin upper lip, smooth or flattend philtrum) and/or disorders in the central nervous system (minimum 3) and prenatal exposure to alcohol (confirmed if possible).

Early diagnosis of fetal alcohol syndrome – after birth or in infancy – is very often impossible or very difficult due to the incomplete manifestation of the key dysmorphic features. The latest reports offer the chance of diagnosing children in the neonatal period.

The research focuses on the analysis of ethanol metabolites in the biological tissues in pregnant women or newborns. These unique ethanol metabolites include: fatty acid ethyl esters (FAEE) present in the meconium, blood, hair of the mother and the newborn, ethyl glucuronide in the placenta and meconium, urine, nails and hair, and phosphatidyl ethanol (PEth) found in the infant blood. The presence of fatty acid ethyl esters in the meconium could be a non-invasive and cost-effective method of early detection of disorders associated with prenatal alcohol exposure.