Abstract
Preterm birth is associated with short‐ and long‐term impairments affecting physical, cognitive, and neuropsychiatric health. These sequelae, together with a rising preterm birth rate and increased survival, make prematurity a growing public health issue because of the increased number of individuals with impaired health throughout the life span. Although a major contribution to preterm birth comes from environmental factors, it is also modestly heritable. Little is known about the architecture of this genetic contribution. Studies of common and of rare genetic variation have had limited power, but recent findings implicate variation in both the maternal and fetal genome. There is some evidence risk alleles in mothers may be enriched for processes related to immunity and inflammation, and in the preterm infant, processes related to brain development. Overall genomic discoveries for preterm birth lag behind progress for many other multifactorial diseases and traits. Investigations focusing on gene–environment interactions may also provide insights, but these studies still have a number of limitations. Adequately sized genetic studies of preterm birth are a priority for the future especially given the breadth of its negative health impacts across the life span and the current interest in newborn genome sequencing.
Highlights
Birth is defined as preterm if it occurs before 37 weeks of gestation, and accounts for ∼60,000 births in the United Kingdom every year (Blencowe et al, 2012)
We aim to provide a brief review of genetic findings for preterm birth and highlight issues that need to be addressed in future research
Preterm birth is a major public health issue, with individuals at substantially higher risk of a wide range of adverse health outcomes that extend throughout the life-course and into the generation
Summary
Birth is defined as preterm if it occurs before 37 weeks of gestation, and accounts for ∼60,000 births in the United Kingdom every year (Blencowe et al, 2012). Preterm birth can be categorized into medically indicated and spontaneous The former is where labor is induced or a Caesarean section is performed because of medical risks or complications, the latter where onset of labor occurs spontaneously prior to 37 weeks gestation. Impairments affecting multiple organ systems (Haraldsdottir et al, 2018; Huang, Lin, Wang, Su, & Lin, 2018; Parkinson, Hyde, Gale, Santhakumaran, & Modi, 2013), including potentially disabling neurological and neuropsychiatric disorders (Agrawal, Rao, Bulsara, & Patole, 2018; Franz et al, 2018; Heuvelman et al, 2018; Nosarti et al, 2012; Sutton & Darmstadt, 2013) This highlights the importance of determining the mechanisms behind preterm birth and how these mechanisms might relate to the difficulties faced later in life. We aim to provide a brief review of genetic findings for preterm birth and highlight issues that need to be addressed in future research
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