Premature birth and diseases in premature infants: common genetic background?

Abstract

It has been proposed that during human evolution, development of obligate bipedalism, narrow birth canal cross-sectional area and the large brain have forced an adjustment in duration of pregnancy (scaling of gestational age; Plunkett 2011). Children compared to other mammals are born with proportionally small brains (compared to adult brains), suggesting shortening of pregnancy duration during recent evolution. Prevalence of both obstructed delivery and premature birth is still exceptionally high. In near term infants, functional maturity and viability is high, and gene variants predisposing to respiratory distress syndrome (RDS) are rare. Advanced antenatal and neonatal treatment practices during the new era of medicine allowed survival of also very preterm infants (gestation <32 weeks). Genetic factors may play a major role in predisposing these infants to common pulmonary (bronchopulmonary dysplasia [BPD]; RDS) and intracerebral (intraventricular hemorrhage [IVH], cerebral palsy [CP]) diseases. Fetal genes also influence the susceptibility to preterm labor and premature birth. Specific genes associating with diseases in preterm infants may also contribute to the susceptibility to preterm birth. Understanding and applying the knowledge of genetic interactions in normal and abnormal perinatal-neonatal development requires large, well-structured population cohorts, studies involving the whole genome and international interdisciplinary collaboration.

Keywords::

• bronchopulmonary dysplasia
• candidate gene
• cerebral palsy
• human genome
• intraventricular hemorrhage premature labor
• lung surfactant
• respiratory distress syndrome

Declaration of interest: The author declares no conflict of interest.