基于单核苷酸多态性微阵列分析技术对染色体片段缺失孕妇引产选择的指导价值分析  

Guidance value of single nucleotide polymorphism array analysis technology for induction of labor in pregnant women with chromosomal fragment deletion

作　　者：钟丽群 欧阳宁 ZHONG Liqun;OUYANG Ning(Department of Prenatal Diagnosis,Pingxiang Maternal and Child Health Hospital,Jiangxi Province,Pingxiang337000,China;Department of Genetic Counseling,Pingxiang Maternal and Child Health Hospital,Jiangxi Province,Pingxiang337000,China)

机构地区：[1]江西省萍乡市妇幼保健院产前诊断科,江西萍乡337000 [2]江西省萍乡市妇幼保健院遗传咨询科,江西萍乡337000

出　　处：《中国当代医药》2024年第5期103-106,110,共5页China Modern Medicine

基　　金：江西省卫生健康委科技计划项目(SKJP220211053)。

摘　　要：目的分析单核苷酸多态性微阵列(SNP-array)技术诊断胎儿染色体缺失的敏感性与准确性,探讨其在孕妇引产选择上的临床指导价值。方法回顾性选取萍乡市妇幼保健院2020年1月至2022年5月接受孕检的有产前诊断指征如高龄、不良妊娠史、超声检查异常的1007例孕妇的临床资料,所有孕妇均行染色体核型检测,同时进行SNP-array技术完成胎儿产前遗传学诊断,根据诊断结果为孕妇提供染色体缺失对子女成长发育的危害的相关知识,由父母进行引产或继续妊娠选择。以染色体核型检测结果为金标准,计算SNP-array技术诊断胎儿染色体异常的敏感度与准确度,分析SNP-array技术对染色体片段缺失诊断的临床价值和孕妇引产选择的指导价值。结果经染色体核型检测共73例(7.25%)胎儿检测出染色体异常。SNP-array技术诊断确认共108例(10.72%)胎儿检测出染色体异常,其中26例(2.58%)为染色体片段缺失。26例染色体片段缺失案例中引产15例,继续妊娠并产出子女11例。SNP-array检测染色体异常准确度为91.36%、敏感度为64.38%、特异度为93.47%,Kappa值=0.474。在染色体片段缺失的诊断上,SNP-array技术检测准确度为97.91%、敏感度为100.00%、特异度为97.90%,Kappa值=0.317。结论SNP-array技术产前遗传学诊断胎儿染色体片段缺失,指导孕妇引产结局较传统染色体核型检测良好,在提高妊娠结局上具有较高临床价值,但一致性和敏感性较差,无法单独替代染色体核型检测,临床上宜将两种检查方法联合使用以提高诊断质量。Objective To analyze the sensitivity and accuracy of single nucleotide polymorphism array(SNP-array)in the diagnosis of fetal chromosome deletion,and to explore its clinical guiding value in the selection of induction of labor.Methods From January 2020 to May 2022,the clinical data of 1007 pregnant women with prenatal diagnosis indications such as advanced age,adverse pregnancy history and abnormal ultrasound examination in Pingxiang Maternal and Child Health Hospital were retrospectively analyzed.All pregnant women underwent chromosome karyotype analysis,and SNP-array technology was used to complete fetal genetic diagnosis.According to the diagnosis results,the pregnant women were provided with relevant knowledge about the harm of chromosome deletion to the growth and development of their children,and the parents made the choice of induction or continuation of pregnancy.Using karyotype analysis as the gold standard,the sensitivity and accuracy of SNP-array in the diagnosis of fetal chromosomal abnormalities were calculated.The clinical value of SNP-array in the diagnosis of chromosomal fragment deletion and the guiding value of induction of labor were analyzed.Results Chromosomal abnormalities were detected in 73 cases(7.25%).SNP-array confirmed 108 cases(10.72%)of chromosomal abnormalities,including 26 cases(2.58%)of chromosomal fragment deletion.Among the 26 cases with chromosome fragment deletion,15 cases were terminated and 11 cases continued pregnancy and gave birth to children.SNP-array had an accuracy of 91.36%,a sensitivity of 64.38%,and a specificity of 93.47%in detecting chromosomal abnormalities,with a Kappa value of 0.474.In the diagnosis of chromosomal deletion,the accuracy,sensitivity and specificity of SNP-array were 97.91%,100.00%and 97.90%,respectively,and Kappa value was 0.317.Conclusion SNP-array is better than conventional karyotyping in the diagnosis of fetal chromosomal fragment deletion,and has high clinical value in improving pregnancy outcomes.However,the consistency and sensitivity of S

关 键 词：产前遗传学诊断 染色体核型 单核苷酸多态性微阵列技术 染色体片段缺失 引产 

分 类 号：R714.21[医药卫生—妇产科学]