[1]马 威,魏 波,张慧萍△.染色体微阵列分析技术在先天性心脏病胎儿产前遗传学诊断中的应用价值*[J].陕西医学杂志,2020,49(11):1436-1439.[doi:DOI:10.3969/j.issn.1000-7377.2020.11.017]
　MA Wei,WEI Bo,ZHANG Huiping..Application value of chromosome microarray analysis technology in prenatal genetic diagnosis of fetuses with congenital heart disease[J].,2020,49(11):1436-1439.[doi:DOI:10.3969/j.issn.1000-7377.2020.11.017]
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染色体微阵列分析技术在先天性心脏病胎儿产前遗传学诊断中的应用价值*
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《陕西医学杂志》[ISSN:1000-7377/CN:61-1281/TN]

卷:
49
期数:
2020年11期
页码:
1436-1439
栏目:
临床研究
出版日期:
2020-11-05

文章信息/Info

Title:
Application value of chromosome microarray analysis technology in prenatal genetic diagnosis of fetuses with congenital heart disease
作者:
马 威; 魏 波; 张慧萍△
宁夏医科大学总医院产前诊断中心(银川750004)
Author(s):
MA Wei; WEI Bo; ZHANG Huiping.
Prenatal Diagnosis Center,General Hospital of Ningxia Medical University(Yinchuan 750004)
关键词:
先天性心脏病;  诊断;  染色体微阵列分析;  染色体核型分析;  拷贝数变异;  预后
Keywords:
Congenital heart disease;  Diagnosis;  Chromosome microarray analysis;  Chromosome karyotype analysis;  Copy number variation;  Prognosis
分类号:
R714.53
DOI:
DOI:10.3969/j.issn.1000-7377.2020.11.017
文献标志码:
A
摘要:
目的:探讨染色体微阵列分析(CMA)技术在先天性心脏病(CHD)胎儿产前遗传学诊断中的价值。方法:选取经超声提示CHD胎儿的孕妇76例,同时进行染色体核型分析和CMA检测。结果:76例CHD胎儿单一心脏结构畸形、多发心脏结构畸形、心内合并心外异常分别有30例(39.47%)、24例(31.58%)和22例(28.95%); 76例CHD胎儿共检出11例(14.47%)染色体核型异常,其中21-三体综合征3例,18-三体综合征4例,标记染色体2例,臂间倒位1例,平衡易位1例; CMA共检出15例(19.74%)致病性拷贝数变异(CNV),均为已知的致病性异常,包括非整倍体异常7例、亚显微结构CNV改变3例、22q11.1微重复1例、22q11.2微缺失2例、7q11.23微缺失 1例、5p15.33微缺失 1例; CMA和染色体核型分析对单一心脏畸形、多发心脏畸形和心内合并心外畸形胎儿异常检出率比较均无统计学差异(P>0.05)。CMA对心内合并心外畸形胎儿致病性CNV检出率显著高于单一心脏畸形组。结论:CMA相比染色体核型分析能使CHD胎儿遗传学病因检出率提高5.26%,对于核型分析正常的CHD胎儿进一步行CMA检测有助于正确评估胎儿预后。
Abstract:
Objective:To explore the application value of chromosome microarray analysis(CMA)technology in prenatal genetic diagnosis of fetuses with congenital heart disease(CHD).Methods:76 pregnant women with CHD fetuses diagnosed by ultrasound were enrolled.The karyotype analysis and CMA detection were conducted.Results:Of the 76 CHD fetuses,there were 30 cases(39.47%)with single cardiac malformations,24 cases(31.58%)with multiple cardiac malformations and 22 cases(28.95%)with extracardiac malformations.Of the 76 CHD fetuses,there were 11(14.47%)with abnormal chromosome karyotype,including 3 cases with trisomy 21 syndrome,4 cases with trisomy 18 syndrome,2 cases with marker chromosomes,1 case with pericentric inversion and 1 case with balanced translocation.It was detected by CMA that there were 15 cases(19.74%)with pathogenic copy number variations(CNVs),which were all known pathogenic abnormalities,including 7 cases with aneuploidy abnormalities,3 cases with submicroscopic CNV changes,1 cases with 22q11.1 micro-repetition,2 case with 22q11.2 micro-deletion,1 case with 7q11.23 micro-deletion and 1 case with 5p15.33 micro-deletion.There were no significant differences in detection rates of pathogenic CNV among CHD fetuses with single cardiac malformations,multiple cardiac malformations and extracardiac malformations between CMA and karyotype analysis.The detection rate of pathogenic CNV by CMA in extracardiac malformation group was significantly higher than that in single cardiac malformation group.Conclusion:Compared with chromosome karyotype analysis,CMA can increase the detection rate of genetic etiology in CHD fetuses by 5.26%.The further CMA test for CHD fetuses with normal karyotype analysis is conductive to correctly assessing fetal prognosis.

参考文献/References:

[1] 中华医学会胸心血管外科学分会,中华医学会小儿外科学分会心胸外科学组,国家心血管病中心先天性心脏病专业委员会,等.中国心脏出生缺陷围产期诊断和临床评估处置专家共识[J].中华小儿外科杂志,2018,39(3):163-170.
[2] 董柏青,陈碧艳,梁秋瑜,等.广西壮族自治区169万例胎儿总出生缺陷与重大出生缺陷分布特征研究[J].中华流行病学杂志,2019,40(12):1554-1559.
[3] 李烁琳,顾若漪,黄国英.儿童先天性心脏病流行病学特征[J].中国实用儿科杂志,2017,32(11):871-875.
[4] Wang R,Lei T,Fu F,et al.Application of chromosome microarray analysis in patients with unexplained developmental delay/intellectual disability in South China[J].Pediatr Neonatol,2018,60(1):35-42.
[5] 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.
[6] 弓 瑜.彩色多普勒超声检查在孕中晚期胎儿心脏畸形筛查中的临床价值[J].陕西医学杂志,2017,46(10):1449-1450.
[7] 魏琳颜,高 霞,薛红丽.先天性心脏病影响因素研究进展[J].中国妇幼保健,2019,34(3):713-718.
[8] Wit MC,Srebniak MI,Govaerts LC,et al.Additional value of prenatal genomic array testing in fetuses with isolated structural ultrasound abnormalities and a normal karyotype:a systematic review of the literature[J].Ultrasound Obstet Gynecol,2014,43(2):139-146.
[9] 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.
[10] Hanemaaijer NM,Sikkema RB,Vries G,et al.Practical guidelines for interpreting copy number gains detected by high-resolution array in routine diagnostics[J].Eur J Hum Genet,2012,20(2):161-165.
[11] Wang Y,Cao L,Liang D,et al.Prenatal chromosomal microarray analysis in fetuses with congenital heart disease:a prospective cohort study[J].Am J Obstet Gynecol,2018,218(2):1-17.
[12] Wu XL,Li R,Fu F,et al.Chromosome microarray analysis in the investigation of children with congenital heart disease[J].BMC Pediatr,2017,17(1):117.
[13] Zhu X,Li J,Ru T,et al.Identification of copy number variations associated with congenital heart disease by chromosomal microarray analysis and next-generation sequencing[J].Prenat Diagn,2016,36(4):321-327.
[14] 田 雨,胡 婷,刘珊玲,等.染色体微阵列技术在先天性心脏病胎儿诊断中的应用[J].中华医学遗传学杂志,2018,35(6):919-920.
[15] 杨 晓,彭 薇,马 宁,等.染色体微阵列分析在先天性多发性畸形临床诊断中的应用[J].临床儿科杂志,2018,36(12):889-893.

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备注/Memo

备注/Memo:
*宁夏医科大学校级课题(XM2019069)
更新日期/Last Update: 2020-11-05