Indian J Pediatr. 2026 Jul 1. doi: 10.1007/s12098-026-06239-0. Online ahead of print.
ABSTRACT
OBJECTIVES: To present an overview of the practice of prenatal diagnosis and genomics in India.
METHODS: This manuscript was compiled through review of published literature, survey of peers and professional experience of authors.
RESULTS: The field of prenatal diagnosis in India had its beginnings in the 1980s with advent of ultrasound machines and invasive procedures. The high prevalence of birth defects and genetic diseases in the population had been recognized by pediatricians and clinical geneticists as early as the 1950-60s. Various factors, like epidemiological transition with increasing contribution of genetic diseases and birth defects towards adverse health statistics, enhanced awareness of health care providers and policy makers, availability of trained manpower and rapid advancements in the field of genomics have all led to expansion of the field of prenatal diagnosis and genomics in the country since these early times. Medical termination of pregnancy has been legally allowed since 1971 and culturally acceptable to the majority. In the last four decades, advances in prenatal diagnosis have given women the option to make decisions about termination of pregnancy by earlier detection of fetal structural and genetic abnormalities.
CONCLUSIONS: This study reviews the historical journey of the field in India and the current status. It also discusses the challenges faced by the country and the measures being undertaken to address the same.
PMID:42384265 | DOI:10.1007/s12098-026-06239-0
