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.(Chin J Lab Med, 2017, 40: 489-491) Key words: High-throughput nucleotide sequencing; Prenatal diagnosis
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