CONGRESS 2023 - Fetal Alcohol Spectrum Disorder- Clinical Chemistry to Clinical Practice

The UK has the 4th highest prevalence rate of alcohol consumption in pregnancy in the world. Fetal Alcohol Spectrum Disorder (FASD) is the most common non-genetic learning disability in the UK with a prevalence rate of at least 5%, more than autism and ADHD combined. A high-profile public health campaign combined with effective antenatal and pre-conception care is urgently required. Accurate and early identification of women at risk from alcohol consumption during pregnancy allows education and support to be targeted at those most in need. Self-report has limited sensitivity but is commonplace due to its acceptability and affordability. Biomarkers have the potential to provide an objective and reliable antenatal alcohol screening solution. To explore the utility of blood biomarkers, we conducted a systematic review comparing the diagnostic accuracy of blood analysis and maternal self-report in detecting at antenatal alcohol exposure. We discovered that none of the biomarkers identified had both high sensitivity and specificity when compared to self-report. There was some evidence that a combination of biomarkers, or combining biomarkers with self-report, increases accuracy. Blood biomarkers examined were of limited use in screening for low and moderate alcohol consumption in pregnancy when compared to self-report. However, certain biomarkers, such as carbohydrate deficient transferrin (CDT) and phosphatidylethanol (PEth) may complement self-report and help improve the accuracy of diagnosis. We applied these findings to practice with two studies comparing the prevalence of alcohol consumption in the first trimester of pregnancy using self-report and blood biomarker analysis. The booking bloods were from women under the care of Northumbria Healthcare NHS Foundation Trust (NHCT) and North Tees and Hartlepool NHS Foundation Trust (NTHFT). Six-hundred routine blood samples were anonymously analysed from each location for the presence of Carbohydrate Deficient Transferrin (CDT), a validated marker of chronic alcohol exposure (normalising 2–3 weeks from abstinence) and Gamma-glutamyltransferase (GGT), a liver enzyme elevated for up to 8 weeks after alcohol exposure. At NHCT, CDT analysis revealed a prevalence rate of 1.4% and GGT a prevalence rate of 3.5% in the first trimester of pregnancy. Although those with elevated CDT generally had high levels of GGT, only one person was positive for CDT and GGT. The NTHFT data revealed a CDT prevalence rate of 1.7% (95% CI: 0.7–2.9) and GGT prevalence rate of 4.2% (95% CI: 2.6–5.9). No overlapping cases were identified, or a significant correlation was demonstrated between CDT or GGT. Although CDT and GGT analysis are not sensitive to low levels of alcohol, prevalence rates were similar in both areas, suggesting similar patterns of sustained alcohol use in pregnancy across the region. We also took a full year's sample of data from the antenatal visits of women at NHCT, which documented the women's self-reported alcohol consumption. The percentage of women who reported alcohol intake in the first trimester was 0.8%, approximately half the rate of those identified by CDT. This compared to 74.1% of women who reported consuming alcohol before pregnancy, indicating the limited value of self-report in clinical practice.

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