染色体微阵列分析在胎儿心脏畸形诊断中的应用探讨
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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.
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.
引文
[1]余献增,骆丹越,杨红梅,等.胎儿心脏畸形诊断中产前超声应用的价值分析[J].中华全科医学,2015,13(3):452-454.
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[3]易翠兴,潘敏,胡舜妍,等. 161例胎儿心脏结构畸形的染色体核型分析[J].中国优生与遗传杂志,2017,25(2):102-104.
[4]GrünblattE,OnedaB,EkiciAB,etal.Highresolution chromosomal microarray analysis in paediatric obsessivecompulsive disorder[J]. BMC Med Genomics,2017,10(1):68.
[5]郭乔丽,符芳,李茹,等.染色体微阵列分析技术在马蹄足内翻胎儿产前诊断中的应用[J].中华妇产科杂志,2016,51(7):484-490.
[6]杨静,刘霞,许川一,等.四维超声STIC技术在胎儿心脏畸形辅助诊断中的应用价值[J].中华全科医学,2016,14(3):452-454.
[7]St Louis JD,Kurosawa H,Jonas RA,et al. The World Database for Pediatric and Congenital Heart Surgery:The Dawn of a New Era of Global Communication and Quality Improvement in Congenital Heart Disease[J]. World J Pediatr Congenit Heart Surg,2017,8(5):597-599.
[8]吴坚柱,周祎,杨柳,等.早孕期超声异常胎儿的染色体核型分析[J].中华医学遗传学杂志,2016,33(3):408-411.
[9]刘洋,谢建生,耿茜,等. G显带和多重连接依赖探针扩增联合分析心脏发育畸形胎儿的染色体异常[J].中华医学遗传学杂志,2017,34(1):1-5.
[10]游艳琴,汪淑娟,汪龙霞,等.微阵列比较基因组杂交技术在多发畸形中的临床应用研究[J].解放军医学杂志,2016,41(9):750-757.
[11]林小玲,徐雪琴,李德柒,等. 272例中、晚孕期超声异常胎儿脐血染色体核型及微阵列结果分析[J].中国卫生检验杂志,2017,27(4):585-587.
[12] Brabbing-Goldstein D,Reches A,Svirsky R,et al. Dilemmas in genetic counseling for low-penetrance neuro-susceptibility loci detected on prenatal chromosomal microarray analysis[J]. Am J Obstet Gynecol,2018,218(2):247. e1-247.e12.
[13]孙丽娟,吴青青,姚苓,等.结合产前超声诊断评价染色体微阵列分析在Dandy-Walker综合征胎儿病因解释及产前咨询中的应用价值[J].中国医药,2017,12(7):1069-1073.
[14]孟卓,熊礼宽,林小影,等.染色体微阵列分析在胎儿唇腭裂畸形中的临床应用[J].海南医学,2018,29(3):336-338.
[15]邓琼,符芳,李茹,等.染色体微阵列分析技术在室间隔缺损胎儿中的应用研究[J].中华医学遗传学杂志,2017,34(5):699-704.
[16]曾艳,许平,范佳鸣,等. 251例产前B超诊断畸形胎儿的染色体核型分析[J].中华医学遗传学杂志,2017,34(2):304-306.
[17]邹畅,赵鑫,林秀华,等.脐带血淋巴细胞染色体核型分析在孕中晚期胎儿染色体异常诊断中的作用研究[J].中国医师杂志,2016,18(8):1148-1151.
[18]吴琦嫦,杨小梅,王文博,等.探讨传统染色体核型分析与染色体微阵列分析技术在产前诊断中的应用[J].中国优生与遗传杂志,2017,25(11):55-60.
[19] Bartholmot C,Mousty E,Grosjean F,et al. Contribution of chromosomal microarray analysis by a multidisciplinary prenatal diagnosis center[J]. Gynecol Obstet Fertil Senol,2017,45(7-8):400-407.
[20]宋婷婷,万陕宁,黎昱,等.染色体微阵列分析技术在侧脑室增宽胎儿产前诊断中的应用价值[J].解放军医学杂志,2017,42(10):902-908.
[2]Rychik J,Goff D,Mc Kay E,et al. Characterization of the Placenta in the Newborn with Congenital Heart Disease:Distinctions Based on Type of Cardiac Malformation[J]. Pediatr Cardiol,2018,39(6):1165-1171.
[3]易翠兴,潘敏,胡舜妍,等. 161例胎儿心脏结构畸形的染色体核型分析[J].中国优生与遗传杂志,2017,25(2):102-104.
[4]GrünblattE,OnedaB,EkiciAB,etal.Highresolution chromosomal microarray analysis in paediatric obsessivecompulsive disorder[J]. BMC Med Genomics,2017,10(1):68.
[5]郭乔丽,符芳,李茹,等.染色体微阵列分析技术在马蹄足内翻胎儿产前诊断中的应用[J].中华妇产科杂志,2016,51(7):484-490.
[6]杨静,刘霞,许川一,等.四维超声STIC技术在胎儿心脏畸形辅助诊断中的应用价值[J].中华全科医学,2016,14(3):452-454.
[7]St Louis JD,Kurosawa H,Jonas RA,et al. The World Database for Pediatric and Congenital Heart Surgery:The Dawn of a New Era of Global Communication and Quality Improvement in Congenital Heart Disease[J]. World J Pediatr Congenit Heart Surg,2017,8(5):597-599.
[8]吴坚柱,周祎,杨柳,等.早孕期超声异常胎儿的染色体核型分析[J].中华医学遗传学杂志,2016,33(3):408-411.
[9]刘洋,谢建生,耿茜,等. G显带和多重连接依赖探针扩增联合分析心脏发育畸形胎儿的染色体异常[J].中华医学遗传学杂志,2017,34(1):1-5.
[10]游艳琴,汪淑娟,汪龙霞,等.微阵列比较基因组杂交技术在多发畸形中的临床应用研究[J].解放军医学杂志,2016,41(9):750-757.
[11]林小玲,徐雪琴,李德柒,等. 272例中、晚孕期超声异常胎儿脐血染色体核型及微阵列结果分析[J].中国卫生检验杂志,2017,27(4):585-587.
[12] Brabbing-Goldstein D,Reches A,Svirsky R,et al. Dilemmas in genetic counseling for low-penetrance neuro-susceptibility loci detected on prenatal chromosomal microarray analysis[J]. Am J Obstet Gynecol,2018,218(2):247. e1-247.e12.
[13]孙丽娟,吴青青,姚苓,等.结合产前超声诊断评价染色体微阵列分析在Dandy-Walker综合征胎儿病因解释及产前咨询中的应用价值[J].中国医药,2017,12(7):1069-1073.
[14]孟卓,熊礼宽,林小影,等.染色体微阵列分析在胎儿唇腭裂畸形中的临床应用[J].海南医学,2018,29(3):336-338.
[15]邓琼,符芳,李茹,等.染色体微阵列分析技术在室间隔缺损胎儿中的应用研究[J].中华医学遗传学杂志,2017,34(5):699-704.
[16]曾艳,许平,范佳鸣,等. 251例产前B超诊断畸形胎儿的染色体核型分析[J].中华医学遗传学杂志,2017,34(2):304-306.
[17]邹畅,赵鑫,林秀华,等.脐带血淋巴细胞染色体核型分析在孕中晚期胎儿染色体异常诊断中的作用研究[J].中国医师杂志,2016,18(8):1148-1151.
[18]吴琦嫦,杨小梅,王文博,等.探讨传统染色体核型分析与染色体微阵列分析技术在产前诊断中的应用[J].中国优生与遗传杂志,2017,25(11):55-60.
[19] Bartholmot C,Mousty E,Grosjean F,et al. Contribution of chromosomal microarray analysis by a multidisciplinary prenatal diagnosis center[J]. Gynecol Obstet Fertil Senol,2017,45(7-8):400-407.
[20]宋婷婷,万陕宁,黎昱,等.染色体微阵列分析技术在侧脑室增宽胎儿产前诊断中的应用价值[J].解放军医学杂志,2017,42(10):902-908.