Perinatal genomics: Current research on genetic contributions to preterm birth and placental phenotype

Annu Rev Nurs Res. 2011:29:331-51. doi: 10.1891/0739-6686.29.331.


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.

Publication types

  • Review

MeSH terms

  • Female
  • Genomics / trends*
  • Humans
  • Nursing Research / trends
  • Phenotype
  • Placenta Diseases / genetics*
  • Placenta Diseases / mortality
  • Placenta Diseases / nursing*
  • Pregnancy
  • Premature Birth / genetics*
  • Premature Birth / mortality
  • Premature Birth / nursing*
  • Prenatal Care / trends