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Perinatal genomics: Current research on genetic contributions to preterm birth and placental phenotype
1College of Nursing, University of Utah, Salt Lake City, USA.
Insights
Perinatal genomics explores genetic factors in pregnancy complications like preterm birth. Understanding these genetic links is crucial for improving maternal and newborn health outcomes.
Area of Science:
- Genomics
- Perinatal Medicine
- Reproductive Health
Background:
- Pregnancy complications contribute significantly to maternal, fetal, and newborn morbidity and mortality.
- Perinatal complications are linked to impaired fetal/newborn development, cognitive deficits, and death.
- Many perinatal complications possess underlying pathophysiologic mechanisms with a genetic basis.
Purpose of the Study:
- To focus on perinatal genomics, specifically examining preterm birth and dysfunctional placental phenotype.
- To discuss genetic variation, mutation, inheritance, gene expression, and biomarkers in relation to preterm birth.
- To address the impact of maternal tobacco smoke on placental phenotype and the role of epigenetics.
Main Methods:
- Review of genetic principles including variation, mutation, and inheritance.
- Analysis of gene expression and genetic biomarkers.
- Examination of epigenetic regulation in placental development.
- Inclusion of maternal environmental factors, such as tobacco smoke exposure.
Main Results:
- Genetic factors play a significant role in the pathophysiology of preterm birth.
- Maternal tobacco smoke exposure influences placental phenotype.
- Epigenetics is critical for regulating gene expression in the placenta and impacts fetal development.
- The fetal origins of adult health and disease are influenced by perinatal genetic and epigenetic factors.
Conclusions:
- Perinatal genomics offers insights into the genetic underpinnings of pregnancy complications.
- Further research in perinatal genomics is essential for advancing maternal and newborn healthcare.
- Nurse-researchers can contribute significantly to perinatal genomics with enhanced genetics knowledge and skills.
Abstract:
Significant maternal, fetal, and newborn morbidity and mortality can be attributed to complications of pregnancy. There are direct links between perinatal complications and poor fetal/newborn development and impaired cognitive function, as well as fetal, newborn, and maternal death. Many perinatal complications have pathophysiologic mechanisms with a genetic basis. The objective of this chapter is to focus on perinatal genomics and the occurrence of two specific complications: preterm birth and dysfunctional placental phenotype. This chapter includes discussions of genetic variation, mutation and inheritance, gene expression, and genetic biomarkers in relation to preterm birth, in addition to the impact of maternal tobacco smoke exposure on placental phenotype. The concept of epigenetics is also addressed, specifically the regulation of gene expression in the placenta and fetal origins of adult health and disease. There is great potential for nurse-researchers to make valuable contributions to perinatal genomics investigations, but this requires perseverance, increased genetics-based understanding and skills, as well as multidisciplinary mentorship.
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