Non-invasive prenatal diagnostic testing for beta-thalassaemia using cell-free fetal DNA and next generation sequencing

摘要

ObjectiveTo develop an accurate non-invasive prenatal test using next generation sequencing (NGS) for HbE and the four most common -thalassaemia mutations found in South East Asia (namely -28A>G, CD17A>T, CD41/42(-TTCT) and IVS-II-654C>T).