This article summarizes the scientific evidence supporting a genetic predisposition to preterm birth (PTB) and current molecular methods used to study the genetic links. Selected candidate genes currently under consideration for study are also discussed.
Understanding the etiology and pathophysiology of PTB remains at the forefront of research efforts to solve this critical problem. Awareness of the contributing factors is imperative to the development of prevention and early intervention strategies that can reduce the incidence of PTB and the consequence of long-term neonatal complications. The possibility of a genetic predisposition to preterm delivery is a relatively new area of study to emerge over the past few years, although for a long time it has been suspected that PTB results from gene-environment interactions. More advanced genetic research methods are now being applied to study this hypothesis. A sample of candidate genes under study and their speculated role in PTB are presented in this article. There will be more research that links genetic influences and environmental factors to PTB in future, and researchers are hopeful that genetic knowledge can be applied to better understand the entire spectrum of prematurity.