Preterm birth — birth before completing 37 weeks of pregnancy — is the leading cause of illness and death among newborns worldwide. Babies born too early often face risk of infection and death after birth, delayed growth and risk of developing late onset diseases like hypertension, diabetes and cancer, later in life. India and South Asia continue to rank among the top five countries with the highest number of preterm births, making it a serious public health concern.

Most preterm births happen spontaneously, without any clear medical reason. While environmental and lifestyle factors can play a role, genetics has been suspected to strongly influence the risk. However, genetic makeup varies among populations and hence it is important to study these factors in different regions and populations to better understand the causes of preterm birth. Such detection of early risk can help doctors ensure proper medical care of new born after delivery, thus mitigating its adverse impact. Further, knowledge of genes and biological processes implicated in preterm birth can lead to development of interventions to reduce preterm birth.

In a ground breaking effort, scientists from BRIC-National Institute of Biomedical Genomics (BRIC-NIBMG), Kalyani, in collaboration with other scientists and clinicians from BRIC- Translational Health Science and Technology Institute (BRIC-THSTI), Gurugram Civil Hospital and others from the GARBH-Ini team (Interdisciplinary Group for Advanced Research on BirtH outcomes – DBT INdia initiative), funded by the Department of Biotechnology, Govt. of India, have carried out the first large-scale genome-wide association analysis (GWAS) of spontaneous preterm birth in Indian women from a secondary care hospital in North India. The GARBH-Ini program, coordinated by BRIC-THSTI, is a mission programme of DBT India and hosts the largest and most comprehensive pregnancy cohort South Asia, comprising 12000 pregnant women enrolled early in pregnancy and followed longitudinally till delivery and into the postpartum period. The genomics study, supported by the Department of Biotechnology (DBT), Government of India, investigated genomes of more than six thousand pregnant women to uncover genetic patterns linked to preterm delivery. This is the first such study reported from India and South Asia, as such efforts conducted earlier were restricted to only women of European ancestry.

For the first time, researchers combined genetic data with multiple layers of biological information — including DNA methylation changes during pregnancy (epigenomics), gene expression in the placenta (transcriptomics), and clinical health records — to gain a complete picture of what happens inside the body that influences preterm delivery. This powerful “multi-omics” approach helped scientists trace how changes in DNA and gene regulation may trigger early labor. When the team compared their findings with similar studies from European populations, they found that some genetic factors were shared across populations, while others were unique to Indian women. The study also revealed biological pathways related to inflammation, placental development, and blood flow in the uterus, providing important clues about how preterm birth develops.

Remarkably, the team identified 66 genetic variants that could help predict which women are at higher risk for preterm birth in the future. These findings could one day enable early screening and personalized care, improving outcomes for mothers and babies.

This pioneering research is the first in South Asia to integrate genetics, epigenetics, gene expression, and clinical data to understand preterm birth. It represents a major step forward in maternal and child health research and could pave the way for better prevention, diagnosis, and treatment of preterm birth in India and around the world.