The application of next generation sequencing on non-invasive prenatal testing: today and tomorrow / 中华检验医学杂志

ABSTRACT

Next-generation sequencing has boosted the development and application of non-invasive prenatal testing.Non-invasive prenatal screening of fetal aneuploidies (T21/T18/T13) has been widely applied around the world as the well-recognized best screening method because of its high sensitivity, low false-positive rate and false-negative rate.Non-invasive prenatal testing of fetal sex chromosome aneuploidies, common chromosome deletion-duplication syndromes and several monogenic disorders has also become technically feasible.It can be expected that primary challenges in the future would be the issues of clinical services and proper managements.