Abstract
A biomarker is a biological measure predictive of a normal or pathogenic process or response. Biomarkers are often useful for making clinical decisions and determining treatment course. One area where such biomarkers would be particularly useful is in identifying women at risk for preterm delivery and related pregnancy complications. Neonates born preterm have significant morbidity and mortality, both in the perinatal period and throughout the life course, and identifying women at risk of delivering preterm may allow for targeted interventions to prevent or delay preterm birth (PTB). In addition to identifying those at increased risk for preterm birth, biomarkers may be able to distinguish neonates at particular risk for future complications due to modifiable environmental factors, such as maternal smoking or alcohol use during pregnancy. Currently, there are no such biomarkers available, though candidate gene and epigenome-wide association studies have identified DNA methylation differences associated with PTB, its risk factors and its long-term outcomes. Further biomarker development is crucial to reducing the health burden associated with adverse intrauterine conditions and preterm birth, and the results of recent DNA methylation studies may advance that goal.
Highlights
The prenatal environment has become increasingly recognized as an important predictor of immediate and long-term risk for chronic conditions, but there are few biological markers that identify those at risk for common pregnancy complications, such as preterm birth (PTB)
One recent study identified thousands of CpG sites in which neonatal methylation could be predicted from maternal methylation and that these correlated patterns were enriched among biological pathways implicated in PTB and chronic diseases [45]. These findings are supported by a recent study that examined maternal gene expression, which is often regulated by DNA methylation, related to preterm labor; 469 genes were differentially expressed in 106 women delivering preterm compared to 48 women with threatened preterm labor
Serotonin transporter (SLC6A4) methylation was decreased and methyl CpG binding protein 2 (MECP2) methylation was increased in maternally exposed newborns, and as both of these genes have previously been implicated in neurodevelopment, altered methylation may contribute to negative neurocognitive outcomes in prenatally exposed children [160]
Summary
The prenatal environment has become increasingly recognized as an important predictor of immediate and long-term risk for chronic conditions, but there are few biological markers that identify those at risk for common pregnancy complications, such as preterm birth (PTB). Biomarkers can be used for risk assessment, early detection or is achronic biological measure that is normal or pathogenic process onset ofAabiomarker disease or illness. Biomarkers can be used for risk assessment, early detection or onset of a disease or indicator of symptom severity or response to treatment [14,15,16]. On recent epigenetic studies of preterm environmental thatfactors increase maternal risk for PTB and infant risk for chronic conditions across the lifespan including that increase maternal risk for PTB and infant risk for chronic conditions across the lifespan maternal perinatal nutrition, substance and stress An epigenetic biomarker encompassing multiple indicators of the perinatal environment would be environment would be valuable for reducing morbidity and mortality from PTB and valuable for and mortality.
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