多种产前诊断技术联合应用在胎儿染色体异常产前诊断中的价值分析  

Analysis on the value of combined application of multiple prenatal diagnostic techniques in prenatal diagnosis of fetal chromosomal abnormalities

作　　者：慈倩倩 张新艳 张燕 马运荣 赵建文 史斐斐 CI Qian-qian;ZHANG Xin-yan;ZHANG Yan;MA Yun-rong;ZHAO Jian-wen;SHI Fei-fei(Prenatal Screening and Diagnosis Center,Jining Maternal and Child Health Family Planning Service Center,Jining,Shandong 272100,China;不详)

机构地区：[1]济宁市妇幼保健计划生育服务中心产前筛查与诊断中心,山东济宁272100 [2]浙江博圣生物技术股份有限公司技术保障部

出　　处：《中国妇幼保健》2024年第1期133-137,共5页Maternal and Child Health Care of China

基　　金：山东省妇幼保健协会科技创新科研项目(鲁妇幼协发[2021]19号);山东省济宁市重点研发计划项目(医学研究和临床医疗类)(济科字[2021]36号)。

摘　　要：目的探讨多种产前诊断技术联合应用在胎儿染色体异常产前诊断中的价值。方法回顾性分析2017年1月—2021年12月在济宁市妇幼保健计划生育服务中心行羊水细胞核型分析联合细菌人工染色体微珠(BoBs)标记技术或染色体微阵列分析(CMA)技术的4319例孕妇资料,分析胎儿染色体异常分布情况、不同产前诊断指征及产前诊断技术的联合应用情况。结果4319例孕妇中检出胎儿染色体异常575例,异常检出率13.31%,检出数目异常270例,检出率为6.25%;结构异常305例,检出率为7.06%,差异无统计学意义(χ^(2)=2.282,P>0.05)。575例异常染色体中,核型分析单独检出染色体异常以染色体平衡性重排和嵌合体为主,BoBs及CMA较核型分析额外检出染色体拷贝数变异(CNVs)195例,其中致病性及可能致病性CNVs 48例,染色体临床意义未明CNVs(VOUS)及可能良性CNVs 147例。高龄孕妇组检出染色体异常以数目异常为主,数目异常与CNVs检出率比较差异有统计学意义(χ^(2)=41.657,P<0.05)。超声异常组检出染色体异常以CNVs为主,CNVs与数目异常检出率比较差异有统计学意义(χ^(2)=25.857,P<0.05)。血清学筛查高风险组与无创产前基因检测(NIPT)高风险组的染色体数目异常和CNVs检出率比较差异均无统计学意义(χ^(2)=0.907,0.081,均P>0.05)。结论对不同产前诊断指征的孕妇,应同时行核型分析联合BoBs/CMA检测,充分发挥细胞遗传学与分子遗传学产前诊断技术的互补优势,从而有效降低出生缺陷发生率。Objective To explore the value of combined application of multiple prenatal diagnostic techniques in prenatal diagnosis of fetal chromosomal abnormalities.Methods From January 2017 to December 2021,the clinical data of 4319 pregnant women undergoing amniotic fluid cell karyotyping combined with bacterial artificial chromosomes-on-beads(BoBs)labeling technique or chromosome microarray analysis(CMA)in Jining Maternal and Child Health Family Planning Service Center were analyzed retrospectively.The distribution of fetal chromosomal abnormalities,different indications for prenatal diagnosis,and the combined application of prenatal diagnostic techniques were analyzed.Results Among 4319 pregnant women,575 cases of chromosomal abnormalities were detected,the detection rate was 13.31%,including 270 cases(6.25%)with numerical abnormalities and 305 cases(7.06%)with structural abnormalities,there was no statistically significant difference(χ^(2)=2.282,P>0.05).Among 575 cases with chromosomal abnormalities,balanced chromosomal rearrangements and chimerism were the main types detected by karyotyping,BoBs and CMA detected an additional 195 cases of chromosomal copy number variations(CNVs)compared with karyotyping,including 48 cases of pathogenic and potentially pathogenic CNVs and 147 cases of VOUS and potentially benign CNVs.In older pregnant women group,the main type detected was chromosomal numerical abnormalities,there was statistically significant difference between detection rate of numerical abnormalities and detection rate of CNVs(χ^(2)=41.657,P<0.05).In ultrasonic anomaly group,the main type detected was CNVs,there was statistically significant difference in detections rates of numerical abnormalities and CNVs(χ^(2)=25.857,P<0.05).There was no statistically significant difference in detection rates of chromosomal numerical abnormalities and CNVs between serological screening high-risk group and noninvasive prenatal genetic testing(NIPT)high-risk group(χ^(2)=0.907,0.081,all P>0.05).Conclusion For pregnant women wit

关 键 词：染色体异常 产前诊断 核型分析 染色体微阵列分析 细菌人工染色体微珠标记技术 

分 类 号：R715.5[医药卫生—妇产科学]