无创胚胎染色体筛查在染色体非整倍体检测中的应用效果

目的 探讨无创胚胎染色体筛查技术（NICS）在染色体非整倍体检测中的应用效果。方法 收集2017年5月至2019年5月在安徽省妇幼保健院生殖中心拟行体外受精-胚胎移植的364例患者的囊胚培养液，并行NICS筛查。对单囊胚移植且临床确认妊娠的46例患者，根据其妊娠结局不同行不同染色体检查方法：对12例流产的患者行流产组织染色体检查，并以该检查结果<为金标准，计算NICS的灵敏度和特异度；对继续妊娠的34例患者行外周血无创产前遗传学筛查（NIPS），比较NICS结果与NIPS筛查结果的差异。结果 12例流产的患者样本中，流产组织染色体检查与NICS检查为染色体非整倍体者均为3例，NICS筛查的灵敏度为100%；在流产组织染色体检查为整倍体的9例样本中，对应的NICS检出2例为非整倍体，其特异度为77.78%，两种筛查方法的一致性分析Kappa值为0.64。继续妊娠的34例患者样本中，NIPS筛查均未检出13、18、21号染色体为非整倍体胚胎，NICS对这3条染色体的筛查结果与NIPS一致。结论 NICS筛查染色体非整倍体有较好的灵敏度，但假阳性率偏高，需进一步技术优化以提高特异性。

Application effect of non-invasive embryo chromosome screening in chromosome aneuploidy detection

Objective To investigate the application effect of non-invasive embryo chromosome screening (NICS) in chromosome aneuploidy detection.Methods The spent culture medium samples used for growing 364 blastocysts in patients who planned to undergo in vitro fertilization-embryo transfer in the reproductive center of Anhui Women and Child Health Care Hospitalwere collected for NICS detection from May 2017 to May 2019. Different examination methods were selected according to different pregnancy outcomes in 46 patients with clinically confirmed pregnancy:The sensitivity and specificity of NICS screening method were tested according to the results of chromosome examination of abortion tissues in 12 patients with miscarriage. Non-invasive prenatal genetic screening (NIPS) of peripheral blood was performed in 34 patients with continued pregnancy, and the differences between NICS and NIPS were compared.Results In the sample of 12 patients with miscarriage, chromosome examination results of abortion tissues showed aneuploidy in three cases, and NICS examination results were also aneuploidy, and the sensitivity of NICS detection of chromosome aneuploidy was 100%.Among nine cases with euploidy in the chromosome examination results of abortion tissues, two cases were aneuploidy in the corresponding NICS examination, with the specificity of 77.78%. The Kappa test was used for consistency analysis, and the Kappa value was 0.64. All four samples of continued pregnancy received NIPS screening, and no embryos with chromosomes 13, 18 and 21 as aneuploidy were detected by NIPS screening.The screening results of these three chromosomes by NICS were consistent with NIPS.Conclusions NICS has shown a good sensitivity in screening aneuploid embryos before implantation. However, the false positive value of NICS is high, which requires further technical optimization to improve the specificity.