BIOMARKER FOR PRENATAL DIAGNOSIS OF TWIN-TO-TWIN TRANSFUSION SYNDROME

摘要

The twin-to-twin transfusion syndrome (TTTS) is a condition that can occur in 10 to 15% (approximately 150, 000 cases/year worldwide) of monochorionic twin pregnancies. Thus, the present application provides a new molecular based method, which allows early screening of this syndrome in a rapid and non-invasive manner. Using real time quantitative PCR, this method is intended to quantify the expression of HBB, a new TTTS biomarker, in maternal plasma. In pregnant women with this condition, this biomarker is significantly reduced when compared to non-pregnant women, as well as pregnant women with both single and twin pregnancies without pathology. This method, if applied to all women with monochorionic twin pregnancies, will allow early screening of TTTS, benefiting both the mother and the fetuses, which can more quickly take advantage of an effective treatment with predictable improvement in fetuses' survival.