新一代测序技术对22q11.2微缺失所致的胎儿心脏发育畸形的产前筛查价值  

Prenatal screening value of new generation sequencing technology for fetal cardiac malformation caused by 22q11.2 microdeletion

作　　者：邹玥 刘颖[1] 郭雪华 ZOU Yue;LIU Ying;GUO Xuehua(Central Laboratory of Jilin Women And Children Health Hospital,Changchun,Jilin 130000,China)

机构地区：[1]吉林省妇幼保健院中心实验室,吉林长春130000

出　　处：《安徽医药》2022年第11期2253-2257,共5页Anhui Medical and Pharmaceutical Journal

摘　　要：目的分析新一代测序技术对22q11.2微缺失所致的胎儿心脏发育畸形的产前筛查价值。方法选取2018年7月至2020年3月吉林省妇幼保健院收治的78例可疑胎儿心脏发育畸形者的孕妇作为受试对象,均接受跟踪随访明确胎儿心脏发育情况,采用新一代测序技术、多重连接探针扩增(MLPA)技术检测22q11.2微缺失情况,并利用MLPA技术对父母溯源。统计随访和检测结果,采用微阵列比较基因组杂交(arrayCGH)技术进行全基因组扫描分析,验证上述检测结果。将arrayCGH验证结果作为“金标准”,分析新一代测序技术对22q11.2微缺失所致的胎儿心脏发育畸形的产前筛查价值。结果78例受试对象中有35例胎儿心脏发育畸形者,经新一代测序技术、MLPA、arrayCGH检测分别有12例、14例、14例22q11.2微缺失;43例胎儿心脏发育正常者经新一代测序技术、MLPA、arrayCGH检测分别有1例、1例、1例22q11.2微缺失;有2例经MLPA检测发现22q11.2微缺失属于父源,余13例均为新发22q11.2微缺失;以arrayCGH验证结果为“金标准”,新一代测序技术诊断22q11.2微缺失的灵敏度、特异度、准确度分别为86.70%、100.00%、97.40%,Kappa一致性检验值为0.913,MLPA诊断22q11.2微缺失的灵敏度、特异度、准确度分别为100.00%、100.00%、10.00%,Kappa一致性检验值为1.000,且新一代测序技术、MLPA检测结果与“金标准”有显著关联性(χ^(2)=59.43、71.70,P<0.05),差异无统计学意义(χ^(2)=0.50、0.00,P>0.05)。结论22q11.2微缺失是胎儿心脏发育畸形的常见原因,新一代测序技术和MLPA对其筛查价值相当。Objective To analyze the prenatal screening value of new generation sequencing technology for fetal cardiac malformation caused by 22q11.2 microdeletion.Methods Seventy-eight pregnant women with suspected fetal cardiac malformation in Jilin Women And Children Health Hospital from July 2018 to March 2020 were selected as the subjects.All pregnant women were followed up to confirm the fetal heart development.22q11.2 microdeletions were detected by next-generation sequencing technology and multiplex ligation probe amplification(MLPA)technology,and MLPA technology was used to trace the origin of parents.The results of followup and detection were statistically analyzed.Array comparative genomic hybridization(array CGH)technology was used for whole genome scanning analysis to verify the above detection results.The follow-up results and array CGH verification results were regarded as the"gold standard",and the prenatal screening value of new generation sequencing technology for fetal cardiac malformation caused by22q11.2 microdeletion was analyzed.Results Among the 78 subjects,35 cases of fetal heart malformation were found,and there were12 cases,14 cases,and 14 cases of 22q11.2 microdeletions detected by new generation sequencing technology,MLPA,and array CGH.In 43 cases of normal fetal heart development,there were 1 case,1 case and 1 case of 22q11.2 microdeletions detected by new generation sequencing technology,MLPA and array CGH.2 cases of 22q11.2 microdeletions were found to be paternal origin by MLPA detection,and the remaining 13 cases were all new 22q11.2 microdeletions.The verification result of array CGH was regarded as the"gold standard",the sensitivity,specificity and accuracy of the new generation sequencing technology in the diagnosis of 22q11.2 microdeletion were 86.70%,100.00%and 97.40%,respectively,and the kappa consistency test value was 0.913.The sensitivity,specificity and accuracy of MLPA diagnosis of 22q11.2 microdeletion were 100.00%,100.00%and 10.00%,respectively,and the kappa consistency test va

关 键 词：心脏缺损 先天性 22Q11.2微缺失 心脏发育畸形 产前筛查 

分 类 号：R714.5[医药卫生—妇产科学]