NICS与PGD检测胚胎染色体罗氏易位一致性的研究  

A clinical study on consistency of non-invasive fluorescent chromosome screening with preimplantation genetic diagnosis in detection of chromosome Roche translocation

作　　者：胡静[1] 张琼芬[1] 凡姝 HU Jing;ZHANG Qiongfen;FAN Shu(Department of Reproductive Medicine,The Affiliated Hospital of Yunnan University,Yunnan Kunming 650021,China)

机构地区：[1]云南大学附属医院生殖医学科,云南昆明650021

出　　处：《中国妇幼健康研究》2022年第1期152-157,共6页Chinese Journal of Woman and Child Health Research

基　　金：云南省科技厅资助项目[2019FE001(-259)]。

摘　　要：目的探讨无创胚胎染色体筛查技术(NICS)与植入前遗传学诊断(PGD)检测胚胎染色体罗氏易位结果的一致性,为临床产前筛查提供理论借鉴。方法选取2018年5月至2021年3月在云南大学附属医院行体外受精-胚胎移植不孕妇女的临床资料84例进行研究,其配偶生殖功能正常,从胚胎营养液中提取样本分别行NICS、PGD检测,并进行比较分析。结果染色体异常主要集中在8、16、22号染色体上。NICS、PGD在检测染色体结构异常和染色体数量异常方面的阴性率与阳性率比较差异均有统计学意义(χ^(2)值分别为65.168、32.747;37.249、34.161,P<0.05);NICS、PGD在检测染色体结构异常和染色体数量异常方面具有一致性(Z=-0.243,P=0.808;Z=-1.000,P=0.317)。NICS、PGD在检测正常或者易位染色体和完全新发染色体异常的阳性率与阴性率鉴别检查比较差异均有统计学意义(χ^(2)值分别为17.155、9.972、15.786、6.364,P<0.05)。NICS、PGD在检测染色体罗氏易位类型方面具有一致性(Z=0.059,P=0.808)。受试者工作特征(ROC)曲线分析诊断效能显示:NICS和PGD的AUC(Z=-1.000,P=0.317)、灵敏度(χ^(2)=2.000,P=0.157)、特异度(χ^(2)=2.000,P=0.157)比较差异均无统计学意义。结论 NICS、PGD检测胚胎染色体罗氏易位均有效,适用于临床。Objective To explore consistency of non-invasive embryo fluorescent chromosome screening(NICS) with preimplantation genetic diagnosis(PGD) in detecting chromosomal Roche translocation of the embryo, and to provide a theoretical reference for clinical prenatal screening.Methods The clinical data of 84 infertile women who underwent in vitro fertilization-embryo transfer(IVT-ET) in The Affiliated Hospital of Yunnan University from May 2018 to March 2021 were selected as the study subjects.Their spouses had normal reproductive function.Samples were extracted from the embryo nutrient solution for detecting of NICS and PGD,and the results obtained by the two detection methods were compared and analyzed.Results The chromosomal abnormalities were mainly concentrated on chromosomes 8,16,and 22.In detecting abnormalities in chromosomal structure and number, there were also statistically significant differences between the negative rates and the positive rates by the two methods NICS and PGD(χ^(2)=65.168,32.747,37.249 and 34.161 rtespectively, all P<0.05).NICS and PGD were consistent in detecting of chromosomal structural and numerical abnormalities(Z=-0.243,P=0.808;Z=-1.000,P=0.317).Furthermore, in detecting normal or translocated chromosomes and novel chromosomal abnormalities, the differences between the positive rates and the negative rates by NICS and PGD were also statistically significant(χ^(2)=17.155,9.972,15.786 and 6.364 respectively, all P<0.05).NICS and PGD were consistent in detecting types of chromosomal Roche translocation(Z=0.059,P=0.808).Receiver′s operating charcteristics curve(ROC) diagnostic performance: in AUC(Z=-1.000,P=0.317),sensitivity(χ^(2)=2.000,P=0.157),and specificity(χ^(2)=2.000,P=0.157),there were no statistically significant differences between NICS and PGD.Conclusion NICS and PGD are both effective in detecting embryonic chromosomal Roche translocation and are suitable for clinical use.

关 键 词：无创胚胎染色体筛查技术 植入前遗传学诊断 胚胎染色体罗氏易位 一致性 

分 类 号：R715[医药卫生—妇产科学]