(Abstracted from JAMA 2018;319(5):474–482)
Several single-site, active-case ascertainment studies in the United States have shown widely varying prevalence estimates for fetal alcohol spectrum disorders, composed of fetal alcohol syndrome, partial fetal alcohol syndrome, and alcohol-related neurodevelopmental disorder. Prevalence of fetal alcohol spectrum disorders are challenging to estimate using routine surveillance methods, and cases are often misdiagnosed or undiagnosed.
Background
We investigated agreement between self-reported prenatal alcohol
exposure (PAE) and objective meconium alcohol markers to determine the
optimal meconium marker and threshold for identifying PAE.
Methods
Meconium fatty acid ethyl esters (FAEE), ethyl glucuronide (EtG), and
ethyl sulfate (EtS) were quantified by liquid chromatography-tandem mass
spectrometry in 0.1 g meconium from infants of Safe Passage Study
participants. Detailed PAE information was collected from women with a
validated timeline follow-back interview. As meconium formation begins
during weeks 12-20, maternal self-reported drinking at or beyond 19 weeks
was our exposure variable.
Results
Of 107 women, 33 reported no alcohol consumption in pregnancy, 16
stopped drinking by week 19, and 58 drank beyond 19 weeks (including 45
3rd trimester drinkers). There was moderate-substantial
agreement between self-reported PAE ≥19 weeks and meconium EtG
≥30 ng/g (kappa: 0.57, 95% CI 0.41-0.73). This biomarker and
associated cutoff was superior to a 7 FAEE sum ≥2 nmol/g and all
other individual and combination marker cutoffs. With meconium EtG
≥30 ng/g as the gold-standard condition and maternal self-report
≥19 weeks gestation as the test condition, 82% sensitivity (95% CI:
71.6-92.0) and 75% specificity (95% CI: 63.2-86.8) were observed. A
significant dose-concentration relationship between self-reported drinks per
drinking day and meconium EtG ≥30 ng/g also was observed
(P<0.01).
Conclusions
We assessed meconium EtG, EtS, and FAEE concentrations in the same
meconium sample and compared concentrations to detailed self-reported PAE
data. Maternal alcohol consumption ≥19 weeks was better represented
by meconium EtG ≥30 ng/g compared to current FAEE cutoffs.
The Environmental influences on Child Health Outcomes (ECHO)-wide Cohort Study (EWC), a collaborative research design comprising 69 cohorts in 31 consortia, was funded by the National Institutes of Health (NIH) in 2016 to improve children’s health in the United States. The EWC harmonizes extant data and collects new data using a standardized protocol, the ECHO-wide Cohort data Collection Protocol (EWCP). EWCP visits occur at least once per life stage, but the frequency and timing of the visits vary across cohorts. As of March 4, 2022, the EWC cohorts contributed data from 60,553 children and consented 29,622 children for new EWCP data and biospecimen collection. The median (interquartile range) age of EWCP-enrolled children was 7.5 years (3.7-11.1). Surveys, interviews, standardized examinations, laboratory analyses, and medical record abstraction are used to obtain information in five main outcome areas: pre-, peri-, and post-natal outcomes; neurodevelopment; obesity; airways; and positive health. Exposures include place- (e.g., air pollution, neighborhood socioeconomic status), family- (e.g., parental mental health), and individual-level (e.g., diet, genomics) factors.
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