产前胎儿染色体异常诊断中无创DNA检测与羊水穿刺的应用效果比较  

Comparison of application of noninvasive DNA detection and amniocentesis in the prenatal diagnosis of fetal chromosomal abnormalities

作　　者：唐黛丽 郑慧玲[1] 金亚清[1] TANG Dai-Li;ZHENG Hui-Ling;JIN Ya-Qing(Department of Eugenic Genetics,Guiyang Maternal and Child Health Hospital,Guiyang 550002,Guizhou,China)

机构地区：[1]贵阳市妇幼保健院优生遗传科,贵州贵阳550002

出　　处：《吉林医学》2024年第12期2900-2903,共4页Jilin Medical Journal

基　　金：贵阳市卫生健康局科学技术计划项目[项目编号:【2021】筑卫健科技合同字第32号]。

摘　　要：目的:比较产前胎儿染色体异常诊断中无创DNA检测与羊水穿刺的应用效果。方法:回顾性分析因无创高危就诊优生遗传科行羊水穿刺的512例孕妇病历资料,所有患者均接受无创DNA产前检测和羊水穿刺进行核型和染色体微阵列分析(CMA)。探究无创DNA产前检测染色体异常符合率。结果:①无创DNA产前检测提示:21三体高危138例(26.95%),18三体高危54例(10.55%),13三体高危27例(5.27%),性染色体高危167例(32.62%),其他常染色体高危126例(24.61%);②羊水穿刺核型诊断:染色体异常210例,总诊断符合率41.02%(210/512),包括21三体综合征胎儿105例,诊断符合率76.09%(105/138),确诊18三体综合征胎儿14例,诊断符合率25.93%(14/54),确诊13三体综合征胎儿3例,诊断符合率11.11%(3/27),确诊性染色体异常胎儿62例,诊断符合率37.13%(62/167),确诊其他常染色体异常胎儿26例,诊断符合率20.63%(26/126),不同染色体高危风险分布及诊断符合率差异有统计学意义(Z=5.391,P=0.000;χ^(2)=117.184,P=0.001);③随访结局:确诊21三体综合征胎儿孕妇引产102例,生产3例;确诊18三体综合征胎儿孕妇引产13例,术后流产1例;确诊13三体综合征胎儿孕妇均引产;确诊性染色体异常胎儿孕妇引产36例,生产26例;确诊其他常染色体异常胎儿孕妇引产10例,生产26例。结论:产前胎儿染色体异常诊断中使用无创DNA检测可有效筛出21三体综合征胎儿,但对其他染色体异常检出率较低,临床产前检查仍需要联合羊水穿刺诊断。Objective To compare the application effect of noninvasive DNA detection and amniocentesis in the prenatal diagnosis of fetal chromosomal abnormalities.Method Medical records of 512 pregnant women who received amniocentesis in department of eugenic genetics of the hospital due to non-invasive high risk were retrospectively analyzed.All patients received noninvasive DNA prenatal detection and amniocentesis for karyotype and chromosome microarray analysis(CMA).The coincidence rate of noninvasive DNA prenatal detection on chromosomal abnormalities was explored.Results①Noninvasive DNA prenatal detection reminded that there were 138 cases(26.95%)of high-risk trisomy 21,54 cases(10.55%)of high-risk trisomy 18,27 cases(5.27%)of high-risk trisomy 13,167 cases(32.62%)of high-risk sex chromosome and 126 cases(24.61%)of high-risk other autosomes.②Amniocentesis karyotype diagnosis showed that there were 210 cases of chromosomal abnormalities with the total diagnostic coincidence rate of 41.02%(210/512),including 105 cases of trisomy 21 syndrome with the diagnostic coincidence rate of 76.09%(105/138),14 cases of trisomy 18 syndrome with the diagnostic coincidence rate of 25.93%(14/54),3 cases of trisomy 13 syndrome with the diagnostic coincidence rate of 11.11%(3/27),62 cases of sex chromosome abnormality with the diagnostic coincidence rate of 37.13%(62/167)and 26 cases of other autosomal abnormalities with the diagnostic coincidence rate of 20.63%(26/126).There were significant differences in the high-risk risk distributions and diagnostic coincidence rates of different chromosomes(Z=5.391,P=0.000;χ^(2)=117.184,P=0.000).③Follow-up results showed that 102 cases of induced labor and 3 cases of cesarean section were diagnosed in pregnant women with trisomy 21 syndrome.There were 13 cases of induced labor and 1 case of postoperative abortion in pregnant women with trisomy 18 syndrome.All pregnant women diagnosed with trisomy 13 syndrome were with induced labor.There were 36 cases of induced labor and 26 cases of cesarean

关 键 词：无创DNA产前检测 羊水穿刺 染色体异常 核型 

分 类 号：R714.53[医药卫生—妇产科学]