Congenital heart diseases (CHD), in which a baby’s heart does not develop properly, can be severe and life-threatening. Many of them require surgery to correct. However, current methods only allow detection of CHDs once the heart has already developed in the second trimester. This study will explore whether markers of inflammation in the mother’s blood can be an early indicator of the development of a CHD. If so, this could provide valuable insight into how CHDs occur, and how to both detect them earlier and treat them more effectively.

Congenital heart diseases (CHD) occur when a baby’s heart doesn’t develop properly while in utero. CHDs are the most common type of birth defect, affecting 1% of all pregnancies, which equates to around 13 babies a day born in the UK. CHDs can vary significantly in severity, from relatively mild where they will not affect a baby’s growth or quality of life, to very life threatening or even fatal.

However, CHDs are not diagnosed until the middle of the pregnancy, by which time the baby’s heart has already developed. Currently, the only available treatment for foetal CHDs is surgery that is either undertaken in the womb or immediately after birth, which can be risky. There is an unmet need for early diagnosis and the identification of less invasive options for the treatment of CHDs.

The placenta, a highly specialised organ that is unique to pregnancy, can directly influence the way the baby’s heart is formed. This is because the placenta and the baby’s heart develop at the same time. Previous work by this research team indicates maternal inflammation early in pregnancy impacts the way the baby’s heart develops. This is due to the fact that it prevents normal placental development.  Therefore, this team, led by Dr Nadkarni at Queen Mary University of London, wants to explore whether measuring inflammation in early pregnancy can provide information about the development of a baby’s heart.

In order to do this, they will analyse the blood samples taken at “booking bloods”, taken within the first 10 weeks of pregnancy. They will compare the level of inflammatory chemicals, known as cytokines, in the blood from pregnancies that resulted in CHD to those that didn’t. This will provide insight into whether there were markers present in the mother’s blood before the CHD was diagnosed. Additionally, for those pregnancies in which CHD was diagnosed, they will examine the mother’s blood at the time of diagnosis as well as the structure of the placenta. These other tests will provide further insight into how maternal inflammation affects foetal heart development.

Overall, this study will provide novel insight into potential mechanisms for the development of congenital heart diseases, as well as providing a basis for early detection methods and potential new treatment pathways.