Spontaneous preterm birth: the underpinnings in the maternal and fetal genomes

Preterm birth (PTB) is a major cause of neonatal mortality and health complications in infants. Elucidation of its genetic underpinnings can lead to improved understanding of the biological mechanisms and boost the development of methods to predict PTB. Although recent genome-based studies of both mother and fetus have identified several genetic loci which might be implicated in PTB, these results suffer from a lack of consistency across multiple studies and populations. Moreover, results of functional validation of most of these findings are unavailable. Since medically indicated preterm deliveries have well-known heterogeneous causes, we have reviewed only those studies which investigated spontaneous preterm birth (sPTB) and have attempted to suggest probable biological mechanisms by which the implicated genetic factors might result in sPTB. We expect our review to provide a panoramic view of the genetics of sPTB.

Automated summary

Preterm birth is a major cause of neonatal mortality and health complications, and understanding its genetic underpinnings can improve prediction and enhance biological mechanism understanding. Although recent genome-based studies have identified genetic loci related to PTB, inconsistencies and lack of functional validation across studies remain a challenge.