Local doctors use mother's blood to predict fetus' congenital heart disease risk

Medical experts from Shanghai's Xinhua Hospital and Fudan University found that protein biomarkers in pregnant women's plasma can be used to forecast the risk of fetus' congenital heart disease. The local team has published the discovery in a medical journal, and will expand the research scale in the next step and develop relevant testing kits, the hospital said on Thursday.

Congenital heart disease is the most common inborn deformity in the world with a high incidence rate and mortality. So prenatal check is very important for disease detection, intervention and a treatment plan before and after birth so as to use medical resources better and reduce mortality.

Currently, prenatal diagnosis of congenital heart disease mainly relies on fetal echocardiography conducted at the mid-gestational age though the sensitivity and accuracy vary with doctors and in different medical facilities.

So an objective method for early diagnosis was needed. Some previous studies have found that internal changes in pregnant women, including concentration and activity of various proteins in the blood, may influence fetus' heart development, while deformity of fetus' cardiovascular system and developmental defect also may reflect in the protein composition of the pregnant women's blood.

So the research team developed the study by testing a mother's blood protein in the early stage of pregnancy while combining fetal echocardiography in mid-pregnancy to perfect an early diagnosis and treatment format for fetus with congenital heart disease.

The experts recruited 207 pregnant women for the case-control study. A total of 103 women delivered healthy offspring while the remaining 104 were cases with congenital heart disease. Plasma was collected during the first trimester and proteomic analysis was performed.

Principal component analysis found considerable differences between the two teams. Based on the data, doctors have developed a diagnostics tool with high accuracy by testing highly sensitive and specific protein combination. After a series of experiments and calculation, it has been confirmed that the combination has good diagnostic value.

"This study provides a highly valuable proteomic resource to better recognize the cause of congenital heart disease and has developed a reliable objective method for the early recognition of the disease, facilitating early intervention and better prognosis," said Dr Sun Kun, president of Xinhua Hospital and one of the leading experts in the research.

Ti Gong