Active Pregnancy, Children & Inherited Conditions NIHR-supported project Diabetes, Hormones & Metabolism

Determining the relationship between fetal malformation and preterm birth

In plain English

AI plain-English summary

A baby with a birth defect is far more likely to be born prematurely, but no one knows why. Around 3% of all babies are born with a structural or functional anomaly such as spina bifida, and these pregnancies end early much more often than those with a healthy fetus. This project uses genetically altered mice to test how birth defects trigger preterm labour, and will search the mother’s blood for biochemical signals that change when a defect is present. The researchers will also test whether improving the mother’s folate nutrition—folic acid supplements already reduce human preterm birth risk—can lower that risk further. If the team identifies specific molecules that differ in the blood, those could become biomarkers to flag human pregnancies at special risk of early delivery. The work is fundamental science: it aims to uncover the biological mechanism linking fetal malformation to preterm birth. That mechanism may also illuminate causes of prematurity more broadly, potentially leading to better monitoring or nutritional advice for pregnant women.

View original technical description
Ensuring that babies are born as near as possible to 40 weeks, and not too early – called ‘prematurity’ or ‘preterm birth’ – is an important medical priority. Preterm (very small) babies have many health challenges, starting after birth and continuing into later life. Moreover, around 3% of all babies have structural or functional anomalies at birth (also called ‘birth defects’: e.g. spina bifida). These can seriously affect the child’s health, education and wellbeing. This project will investigate the link between birth defects and preterm birth. Pregnancies in which the fetus has a birth defect are much more likely to end prematurely than pregnancies where the fetus is healthy, although we do not understand why this happens. OBJECTIVES: This project will use mouse pregnancy as a test system to investigate how birth defects lead to premature birth. We can induce birth defects, genetically, in many of the mouse fetuses, and our preliminary results suggest this increases the risk of premature birth. We will look in the mother’s blood to identify biochemicals that differ in amount, when birth defects are present. We will also study the effect of altering the mother’s nutrition, as folic acid supplements seem to reduce the risk of human preterm birth. CLINICAL BENEFITS: Determining which factors lead to prematurity when a fetus has a birth defect might provide insight into the causes of premature birth more generally. For example, molecules that we discover to differ in this study can serve as ‘biomarkers’ to indicate when a human pregnancy is at special risk of preterm birth. Our work can also show whether improving folate nutrition is important in helping to reduce prematurity

Researchers

Andrew Copp (Principal Investigator)

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Original classification

Tissue engineering and regenerative medicine

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