染色体微阵列分析在胎儿心脏畸形诊断中的应用探讨  

Application discussion of chromosomal microarray analysis in the diagnosis of fetal heart malformation

作　　者：宋筱玉[1] 吴菊[1] 唐中锋 林晓娟[1] 葛婷婷[1] 孙庆梅[1] SONG Xiao-yu;WU Ju;TANG Zhong-feng;LIN Xiao-juan;GE Ting-ting;SUN Qing-mei(Prenatal Diagnosis Center,Gansu Maternal and Child Health Care Hospital,Lanzhou 730050,China)

机构地区：[1]甘肃省妇幼保健院产前诊断中心

出　　处：《中国优生与遗传杂志》2018年第12期86-88,共3页Chinese Journal of Birth Health & Heredity

基　　金：2017年甘肃省卫生行业科研计划项目(编号GSWSKY2017-20)

摘　　要：目的探讨染色体微阵列分析(CMA)在胎儿心脏畸形诊断中的应用价值。方法选取2016年1月~2018年2月在本院经常规超声心动图检查诊断为心脏畸形的107例胎儿,均在自愿原则基础上行染色体核型分析及CMA检测。对比染色体核型分析及CMA检测心脏畸形胎儿染色体异常结果,并分析染色体核型分析正常而CMA检测异常的染色体拷贝数变异(CNVs)。结果 107例胎儿经染色体核型分析及CMA均检测成功,成功率均为100%,经染色体核型分析显示,共有12例胎儿出现染色体结果异常,检出率为11.21%,其余95例胎儿为染色体结果正常,经CMA检测显示,共有18例胎儿出现染色体结果异常,检出率为16.82%,其中12例异常结果与染色体核型分析相同,另6例为额外发现的异常CNVs,此6例额外发现的CNVs片段长度分别为140bp、1.05Mb、2.52Mb、3.25Mb、5.03Mb及1.68Mb,染色体核型分析与CMA对非整倍体或不平衡染色体的检出率具有一致性(P=1.000),CMA对微小缺失或重复染色体的检出率明显高于染色体核型分析(P<0.05)。结论与染色体核型分析相比,CMA可提高胎儿心脏畸形染色体异常的检出率,则指导临床工作者可据此对胎儿预后进行正确评估,从而为孕妇选择终止或继续妊娠提供客观的理论依据。Objective:To discuss the application value of chromosome microarray analysis(CMA)in diagnosis of fetal heart malformations. Methods:A total of 107 fetuses with heart malformations diagnosed by conventional echocardiography were selected from January 2016 to February 2018 in our hospital,who were detected by chromosome karyotype analysis and CMA on the basis of voluntary principle. The results of chromosome abnormalities detected by chromosome karyotype analysis and CMA in fetuses with cardiac malformations were compared,and the chromosome copy number variation(CNVs)of normal detected by chromosome karyotype analysis but abnormal detected by CMA were analyzed. Results:107 fetuses were successfully detected by chromosome karyotype analysis and CMA,and the success rates all were 100%. The chromosome karyotype analysis showed that there were 12 fetuses with abnormal results of chromosome,and the detection rate was 11.21%,and the remaining 95 fetuses with normal results of chromosome. CMA showed that there were 16 fetuses with abnormal results of chromosome,and the detection rate was 16.82%,and 12 cases among them were the same as chromosome karyotype analysis,and the other 6 were additional discoved abnormal CNVs,and the length of the other 6 were additional discoved abnormal CNVs fragments respectively were 140 bp,1.05 Mb,2.52 Mb,3.25 Mb,5.03 Mb and 1.68 Mb. The detection rate of aneuploidy or imbalance chromosome detected by chromosome karyotype analysis was consistent with detected by CMA(P=1.000),and the detection rate of minimal deletion or duplication chromosomes detected by CMA was significantly higher than that by chromosome karyotype analysis(P<0.05). Conclusion:Compared with chromosomal karyotype analysis,the CMA can improve the detection rate of chromosomal abnormalities in fetal heart malformations,which can guide clinical workers to correctly evaluate the fetal prognosis,thus providing an objective theoretical basis for pregnant women to choose termination or continuation of pregnancy.

关 键 词：染色体微阵列分析 胎儿 心脏畸形 诊断价值 

分 类 号：R714.5[医药卫生—妇产科学]