Development of an Epigenetic Biomarker for Prediction of Fetal Alcohol Spectrum Disorder

Fetal alcohol spectrum disorders (FASD) are a group of conditions that can occur in a person whose birth mother consumed alcohol during pregnancy. The effects can include physical problems and/or difficulties with behavior and learning. When clinicians identify FASD early, intervention approaches can minimize the potential impact and lessen or even prevent disabilities. Thus, objective markers for prenatal alcohol exposure are desired.

Using dried blood spots from the umbilical cord and a heel stick of newborns, this study will use Phosphatidylethanol (PEth), a novel biomarker for alcohol exposure, to identify and characterize infants' exposure to alcohol before birth. Additionally, the dried blood spots will used to validate the use of screening assays using epigenetic changes as markers for prenatal alcohol exposure. Epigenetic changes are heritable changes in DNA that affect DNA function but do not change DNA sequence. The use of PEth testing will allow for the correlation of prenatal alcohol exposure levels with epigenetic changes. Women will be consented prior to delivery for participation in this prospective study. The study will be conducted in collaboration with United States Drug Testing Laboratories, Inc. (USDTL).

Women:

Inclusion criteria

• Women aged ≥ 18 years and currently pregnant at time of enrollment
• Women who plan to and then deliver their infants at CAMC Women and Children's Hospital

Exclusion criteria

• Women aged < 18 years
• Women not pregnant
• Women who do not plan to deliver or did not end up delivering their infants at CAMC Women and Children's Hospital

Infants:

Inclusion criteria

• Birth mother was consented prior to delivery
• Live birth at CAMC Women and Children's Hospital

Exclusion criteria

• Birth mother was NOT consented prior to delivery
• Stillborn