Phosphatidylethanol as an Alcohol Biomarker in Umbilical Cord Tissue

DESCRIPTION (provided by applicant): Alcohol causes a wide range of fetal effects that have been designated "fetal alcohol spectrum disorder" (FASD). Children with FASD may benefit from early detection enabling them to receive early intervention and improve their outcome. The current objective test for determining whether a newborn has been exposed to alcohol in utero is the detection of fatty acid ethyl esters (FAEE) in meconium. While this test is the "gold standard" for detecting neonatal alcohol exposure, it does have its limitations. Meconium is difficult to collect, it is passed in utero in 8-20% of births and is unavailable for testing, and the sensitivity of the FAEE assay appears to be 70-80% or less. We have recently demonstrated that it is possible to substitute umbilical cord tissue for meconium in diagnosing exposure in utero of a neonate to drugs of abuse. Umbilical cord is immediately available in all births and is easy to collect. While we have been unable to demonstrate the presence of FAEE in umbilical cord tissue, we have detected phosphatidylethanol (PEth), another direct alcohol biomarker. One report in the literature involving 18 detoxification patients revealed that all 18 patients exhibited PEth in their erythrocytes. In this Phase I study we will collect matched meconium and umbilical cord specimens from 200 newborns suspected of having been exposed to alcohol in utero and compare the instance of FAEE in meconium to PEth in the matched umbilical cord sample. The goal of this study is to determine whether the presence of PEth in umbilical cord tissue is equivalent or superior to the presence of FAEE in meconium for detecting neonatal alcohol exposure and whether it is feasible to substitute umbilical cord for meconium in both drugs of abuse and alcohol testing of newborns. At least 40,000 babies per year exhibit "fetal alcohol spectrum disorder" (FASD) at a cost to the United States of more than $4 billion dollars. Our finding that phosphatidylethanol, a direct alcohol biomarker, can be found in umbilical cord tissue may provide a superior means to diagnose these newborns than the current "gold standard", assaying for the presence of fatty acid ethyl esters in meconium. The ready availability of umbilical cord at each birthing event (8-20% of newborns pass their meconium in utero) would facilitate the identification of FASD newborns that are currently being missed.