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Fetal alcohol spectrum disorders - diagnostic difficulties in the neonatal period and new diagnostic approaches
Iwona Jańczewska1, Jolanta Wierzba2, Monika Cichoń-Kotek3
1Department of Neonatology, Medical University of Gdansk, Poland.
Insights
Diagnosing fetal alcohol spectrum disorders (FASD) early is challenging. Fatty acid ethyl esters (FAEE) in meconium offer a promising, non-invasive method for detecting prenatal alcohol exposure in newborns.
Area of Science:
- Perinatology
- Toxicology
- Pediatrics
Background:
- Fetal alcohol spectrum disorders (FASD) result from prenatal alcohol exposure.
- Current diagnostic criteria for fetal alcohol syndrome are often difficult to apply in early infancy due to incomplete feature manifestation.
- Neonatal period diagnosis is increasingly feasible.
Purpose of the Study:
- To explore novel biomarkers for early detection of fetal alcohol spectrum disorders.
- To evaluate the utility of ethanol metabolites in biological tissues for diagnosing prenatal alcohol exposure.
Main Methods:
- Analysis of ethanol metabolites including fatty acid ethyl esters (FAEE), ethyl glucuronide, and phosphatidylethanol (PEth) in biological samples.
- Samples analyzed include meconium, blood, placenta, urine, hair, and nails from mothers and newborns.
- Focus on FAEE presence in meconium as a non-invasive marker.
Main Results:
- Fatty acid ethyl esters (FAEE) are detectable in meconium, blood, and hair of mothers and newborns.
- Ethyl glucuronide is found in placenta, meconium, urine, nails, and hair.
- Phosphatidylethanol (PEth) is present in infant blood.
- FAEE in meconium shows potential as a non-invasive, cost-effective early detection method.
Conclusions:
- Ethanol metabolites provide viable biomarkers for diagnosing prenatal alcohol exposure.
- Fatty acid ethyl esters in meconium represent a promising non-invasive approach for early FASD detection.
- Further research can refine diagnostic capabilities in the neonatal period.
Abstract:
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 phosphatidylethanol (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.
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