摘要
目的探讨高通量测序技术(NGS)检测复发性流产产妇染色体微粒缺失的价值及影响因素。方法选取我院2018年6月~2019年6月妇产科收治的124例复发性流产产妇纳入研究对象,所有产妇入院后均行G显带染色体核型分析及NGS检测,统计G显带染色体核型分析及NGS检测结果后行一致性分析,检验NGS检测复发性流产产妇染色体异常的准确性,随后依据NGS检测结果将124例复发性流产产妇分为染色体异常组(n=47)与染色体正常组(n=77),分析两组产妇年龄、胎停孕周、流产次数、身体质量指数差异,将两组产妇有差异的信息行量化赋值后行多因素Logistic回归分析,明确染色体异常的影响因素。结果124例复发性流产产妇流产组织阳性标本33.87%(51/124),阴性标本62.10%(73/124);阳性标本中染色体结构异常5.88%(3/51),均为染色体结构缺失;阳性标本中染色体非整体倍体86.27%(44/51),124例复发性流产产妇流产组织阳性标本33.87%(47/124),阴性标本62.10%(77/124);阳性标本中染色体结构异常6.38%(3/47),均为染色体结构缺失;阳性标本中染色体非整体倍体93.62%(44/47),分别为22、X、16、21、15、3号染色体,占比分别为34.09%(15/44)、15.91%(7/44)、25.00%(11/44)、9.09%(4/44)、9.09%(4/44)、6.82%(3/44)。124例复发性流产产妇G显带染色体核型正常70.96%(88/124),异常29.03%(36/124),其中染色体核型异常分别为X、22、16、21号染色体,占比分别为36.11%(10/36)、36.11%(10/36)、22.22%(8/36)、22.22%(8/36)。经一致性分析,NGS检测复发性流产产妇染色体异常的灵敏度为89.47%,特异度为92.54%,准确率为91.13%,Kappa=0.821。经一致性分析,NGS检测复发性流产产妇染色体异常的灵敏度为82.46%,特异度为86.57%,准确率为84.68%,Kappa=0.691。染色体异常组年龄>35岁、流产次数≥4次产妇显著多于染色体正常组,差异有统计学意义(P<0.05)。经多因素Logistic回归分析证实年龄>35岁是染色体异常的影响因素。结论NGS检测能够对复发性流产产妇染色体微粒缺失进行评估,而年龄>35岁则是染色体异常的重要原因。
Objective To investigate the value and influencing factors of high throughput sequencing(NGS)in the detection of chromosomal particle deletion in pregnant women with recurrent abortion.Methods 124 women with recurrent abortion admitted to the department of obstetrics and gynecology of our hospital from June 2018 to June 2019 were included in the study.After admission,all the women underwent g-banding karyotype analysis and NGS detection.Statistical G banding karyotype analysis and testing results of NGS consistency analysis,after inspection NGS the accuracy of the detection of recurrent miscarriage maternal chromosome abnormality,then on the basis of NGS test results will be divided into 124 cases of recurrent abortion maternal chromosome abnormality group(n=47)group(n=77)with normal chromosome,analysis of two groups of maternal age,TaiTing gestational age,the number of abortions,the difference of body mass index(bmi),will there are differences between the two groups of maternal line information quantification assignment after multiariable Logistic regression analysis,the influence factors of specific chromosomal abnormalities.Results In 124 cases of recurrent abortion,positive abortion tissue samples were 33.87%(51/124)and negative samples were 62.10%(73/124).5.88%(3/51)of the positive specimens had chromosome structural abnormalities,all of which were chromosome structural deletions.In the positive samples,chromosome nonholonomic ploidy was 86.27%(44/51),In 124 cases with recurrent abortion,the positive samples of maternal abortion tissues were 33.87%(47/124)and the negative samples were 62.10%(77/124).Chromosome structure abnormality in the positive samples was 6.38%(3/47),all of which were chromosome structure deficiency.The chromosome non-euploidy in the positive samples was 93.62%(44/47),which was chromosome 22,X,16,21,15 and 3,accounting for 34.09%(15/44),15.91%(7/44),25.00%(11/44),9.09%(4/44),9.09%(4/44)and 6.82%(3/44),respectively.In 124 women with recurrent abortion,the G chromosome karyotypes were normal 70.96%(88/124)and abnormal 29.03%(36/124),of which the chromosome karyotypes were chromosome X,chromosome 22,chromosome 16 and chromosome 21,accounting for 36.11%(10/36),36.11%(10/36),22.22%(8/36)and 22.22%(8/36),respectively.According to consistency analysis,the sensitivity,specificity and accuracy of NGS in detecting chromosomal abnormalities in women with recurrent abortion were 89.47%,92.54%and 91.13%,respectively,Kappa=0.821.According to the consistency analysis,the sensitivity,specificity and accuracy of NGS detection of chromosomal abnormalities in pregnant women with recurrent abortion were 82.46%,86.57%and 84.68%,Kappa=0.691.The maternal age of the chromosome abnormality group was 35 years old and the number of abortions≥4 times was significantly higher than that of the chromosome normal group,and the difference was statistically significant(P<0.05).Multivariate Logistic regression analysis confirmed that age>35 years old was the influencing factor of chromosome abnormality.Conclusion The NGS test was able to assess the chromosomal microparticle deficiency in pregnant women with recurrent abortion,and the age of>35 years old was an important cause of chromosomal abnormality.
作者
侯帅
张昊晴
李彩云
陈丹婧
颜海英
阳敏
刘颖慧
雷冬竹
Hou Shuai;Zhang Haoqing;Li Caiyun;Chen Danjing;Yan Haiying;Yang Min;Liu Yinghui;Lei Dongzhu(Prenatal Diagnosis Center,Chenzhou First People's Hospital Chenzhou 423000,Hunan,China)
出处
《现代科学仪器》
2020年第3期101-105,共5页
Modern Scientific Instruments
基金
郴州市科学技局支持项目编号:cz2015024。
关键词
复发性流产
G显带染色体核型分析
高通量测序技术
染色体
Recurrent abortion
Karyotype analysis of G banding chromosome
High-throughput sequencing technology
chromosome
