Analysis of 17,428 pregnant women undergoing non-invasive prenatal testing for fetal chromosome in Northeast China

摘要

Non-invasive prenataltesting (NIPT) isa milestonein prenataland fetalfield. In 1997,cellfreefetalDNAfragments werefound inmaternal blood, [1]and in 2011, NIPTwasapplied to clinic. [2] NIPT for fetalaneuploidy using cell-free DNA(cfDNA) has beenwidely integrated into routine prenataltesting. [3,4] NIPT isa high sensitivity and specificity prenatalscreening test for trisomy 21, 18,and 13. Dueto the genome-wide properties ofNIPT, thescope ofscreeningwas widened to includesex chromosomeaneuploidies,autosomaltrisomies,and sub-microscopic copy number variants.