Application of digital PCR for non-invasive prenatal diagnosis of inherited diseases

Inherited diseases are characterized with a great variety of clinical entities, complex underlying etiologies, and absence of effective treatment, emerging as one of the significant threats to human′s, esp., the health and wellbeing women and children. It′s long been recognized as a powerful and cost-effective strategy to implement prenatal diagnosis for inherited diseases with an array of advanced molecular diagnostics to reduce the nationwide rate of birth defects. Recently, non-invasive prenatal diagnosis for inherited diseases is increasingly applied in research as well as in clinical practice. Digital PCR is a novel technology characterized with superb sensitivity, high accuracy, and absolute quantitation of DNA, and has demonstrated excellent performance in non-invasive prenatal diagnosis of several hereditary disorders, including spinal muscular atrophy, sickle cell anemia, and hemophilia. It′s believed that digital PCR has more to offer in improving non-invasive prenatal diagnosis of inherited diseases in future.(Chin J Lab Med, 2016, 39: 145-149) Key words: Polymerase chain reaction; Genetic disease, inborn; Prenatal diagnosis