A Pilot Study of Noninvasive Prenatal Diagnosis of Alpha- and Beta-Thalassemia with Target Capture Sequencing of Cell-Free Fetal DNA in Maternal Blood

摘要

Aims: Thalassemia is a dangerous hematolytic genetic disease. In south China, similar to 24% of Chinese carry alpha-thalassemia or beta-thalassemia gene mutations. Given the fact that invasive sampling procedures can only be performed by professionals in experienced centers, it may increase the risk of miscarriage or infection. Thus, most people are worried about invasive prenatal testing. As such, a noninvasive and accurate prenatal diagnosis is needed for appropriate genetic counseling for families with high risks. Here we sought to develop capture probes and their companion analysis methods for the noninvasive prenatal detection of deletional and non-deletional thalassemia.