Epigenetics of Early Arrivals

The World Health Organization estimates that 15 million babies – over 10 percent – are born prematurely every year, risking major health problems for survivors both immediately and later in life. But what if you could identify pregnant individuals at risk of giving birth prematurely and put a clinical management plan in place to delay or prevent it? “The problem is that there are currently no efficient clinical biomarkers for preterm birth susceptibility, prompting me and my team to explore a noninvasive option with epigenetic biomarkers,” says Michael Skinner, senior author of a new study that aimed to identify markers of preterm birth (1).

In the study, the team collected buccal cells from cheek swabs of the mother, father, and child in both full and preterm births, then analyzed them to identify differential DNA methylation regions (DMRs). They identified 165 epigenetic DMRs in mothers of preterm babies that were different to those in full-term mothers, as well as 136 such DMRs in female preterm children, suggesting that epigenetic inheritance may play a role in preterm birth. Fathers of preterm births had fewer DMRs than mothers and children, but the epigenetic signature was still sufficient to indicate a potential paternal role. The signature was not found in male preterm infants. The results demonstrate that DNA methylation changes in the mother, father, and female children could act as biomarkers of preterm birth.

The research is a proof-of-concept study, so a larger clinical trial is now needed to improve and validate the epigenetic signatures. “Our findings have significant potential to improve population health and reduce disease burden in later life, while saving many children’s lives after severe early preterm birth,” says Skinner. “For mothers, epigenetic testing could help to avoid the stress and complications caused by preterm birth – a major problem in perinatal health – and improve preventative options for preterm birth treatment.”