Genetic Testing in Pregnancy to Assess the Risk of Preterm Birth

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Genetic Testing in Reproductive Medicine
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Abstract

Preterm birth (PTB) is one of the leading causes of infant and child mortality under 5 years of age. PTB infants have long-term health consequences and usually suffer from sepsis, respiratory distress syndrome, feeding difficulties, and the risk of adult metabolic diseases. Various studies have highlighted the role of a complex interplay between genetic (maternal and fetal) and environmental factors in controlling birth timing in humans. However, the molecular mechanisms involved in the pathophysiology of PTB are still poorly understood. In recent years, studies have suggested a significant contribution of genetic variations to the etiology of PTB. The obstetric/familial history of women with PTB and twin studies also emphasizes the role of genetic factors. In this chapter, we illustrate the plausible genetic factors associated with PTB risk and their suitability to assessing the risk of PTB.

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Bala, R., Singh, R. (2023). Genetic Testing in Pregnancy to Assess the Risk of Preterm Birth. In: Singh, R. (eds) Genetic Testing in Reproductive Medicine. Springer, Singapore. https://doi.org/10.1007/978-981-99-7028-5_14

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