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Published on: November 20, 2015
Premature birth and diseases in premature infants: common genetic background?
1Clinical Institutes of Pediatrics and Obstetrics & Gynecology, Oulu University Hospital, Oulu, Finland. mikko.hallman@oulu.fi
Insights
Human evolution may have shortened pregnancy, leading to high rates of premature birth and related infant complications. Genetic factors significantly influence both preterm birth and infant diseases, necessitating large-scale genomic studies for better understanding.
Area of Science:
- Human evolutionary biology
- Perinatal medicine
- Medical genetics
Background:
- Human evolution, characterized by bipedalism and large brains, may have led to shorter gestation periods compared to other mammals.
- High prevalence of obstructed delivery and premature birth persists, with near-term infants showing good viability but preterm infants (<32 weeks) facing significant risks.
- Advanced neonatal care enables survival of extremely preterm infants, but genetic predispositions to conditions like bronchopulmonary dysplasia (BPD), respiratory distress syndrome (RDS), intraventricular hemorrhage (IVH), and cerebral palsy (CP) are concerns.
Purpose of the Study:
- To explore the evolutionary pressures on human gestation duration and their link to perinatal outcomes.
- To investigate the role of genetic factors in preterm birth and the development of common neonatal diseases.
- To highlight the need for comprehensive genomic studies and international collaboration in perinatal-neonatal research.
Main Methods:
- Review of evolutionary biology principles related to human birth and gestation.
- Analysis of current medical literature on preterm birth, neonatal diseases, and genetic associations.
- Discussion of the requirements for future research, including large cohorts and whole-genome studies.
Main Results:
- Human evolution, particularly the development of bipedalism and large brains, may have resulted in a shortened pregnancy duration.
- Genetic factors are implicated in both the susceptibility to preterm labor and the development of serious conditions in preterm infants.
- Survival rates for very preterm infants have improved due to medical advancements, but genetic predispositions remain a critical area of study.
Conclusions:
- Understanding the genetic underpinnings of perinatal-neonatal development is crucial for addressing high rates of preterm birth and associated infant morbidities.
- Large-scale, well-structured population cohorts and international collaboration are essential for advancing research in this field.
- Future research should focus on whole-genome studies to unravel complex genetic interactions influencing normal and abnormal pregnancy and infant outcomes.
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.
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