[1]欧阳鲁平,刘文慧,覃秀云,等.SNP-array分析在超声波检测颈项透明层增厚胎儿的遗传学诊断中的应用[J].现代检验医学杂志,2019,34(05):4-8.[doi:10.3969/j.issn.1671-7414.2019.05.002]
　OUYANG Lu-ping,LIU Wen-hui,QIN Xiu-yun,et al.Application of Single Nucleotide Polymorphism Microarray Technology in Genetic Examination of Nuchal Translucency Thickened Fetuses[J].Journal of Modern Laboratory Medicine,2019,34(05):4-8.[doi:10.3969/j.issn.1671-7414.2019.05.002]
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SNP-array分析在超声波检测颈项透明层增厚胎儿的遗传学诊断中的应用()
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《现代检验医学杂志》[ISSN:/CN:]

卷:
第34卷
期数:
2019年05期
页码:
4-8
栏目:
论著
出版日期:
2019-10-29

文章信息/Info

Title:
Application of Single Nucleotide Polymorphism Microarray Technology in Genetic Examination of Nuchal Translucency Thickened Fetuses
文章编号:
1671-7414(2019)05-004-05
作者:
欧阳鲁平1; 刘文慧2; 覃秀云3; 王 锦1; 孙惟佳1
(1.广西壮族自治区妇幼保健院遗传代谢中心实验室,南宁 530001; 2.桂林医学院第二附属医院检验科,广西桂林 541100; 3.南宁市第四人民医院超声影像科,南宁 530023)
Author(s):
OUYANG Lu-ping1; LIU Wen-hui2; QIN Xiu-yun3; WANG Jin1; SUN Wei-jia1
(1.Laboratory of Genetic and Metabolism Center,Maternal & Child Health Hospital of GuangxiZhuang Autonomous Region,Nanning 530001,China; 2.Department of Clinical Laboratory,the Second Affiliated Hospital of Guilin Medical College,Guangxi Guilin 541100,China; 3.Department of Ultrasound,the Fourth People's Hospital of Nanning City,Nanning 530023,China)
关键词:
颈项透明层增厚;  绒毛膜穿刺;  核型分析;  单核苷酸多态性微阵列芯片
分类号:
R446.7
DOI:
10.3969/j.issn.1671-7414.2019.05.002
文献标志码:
A
摘要:
目的 探讨染色体核型分析与单核苷酸多态性微阵列芯片技术(single nucleotide polymorphism array,SNP-array)在颈项透明层(nuchal translucency,NT)增厚胎儿遗传学检查中的应用价值。方法 回顾分析130例妊娠早期(11～13+6周)NT≥3.0 mm为NT增厚,行介入性产前诊断绒毛标本的临床资料,统计并分析胎儿染色体核型分析与染色体微阵列芯片检测情况。染色体微阵列分析采用Illumina Human Cyto SNP12微阵列芯片进行全基因组拷贝数变异(copy number variations,CNVs)检测,结合查询国际病理性CNVs数据库(ClinGen,ClinVar,DECIPHER,OMIM)、正常人基因组变异数据库(database of genomic variants,DGV)以及PubMed文献数据库等对检出的CNVs的致病性进行分析。结果 130例胎儿NT增厚的胎儿样本中,检出染色体核型异常35例,检出率26.9%(35/130),检出SNP-array异常44例,检出率33.8%(44/130),SNP-array异常检出率明显高于染色体核型异常检出率,并且差异具有统计学意义(χ2=6.23,P<0.05)。且染色体微阵列技术检出了染色体核型分析未能检出的8例微缺失,4例微重复以及1例单亲二倍体。结论 对超声检测胎儿NT增厚的胎儿样本,行SNP-array检测有助于发现染色体核型分析无法检出的染色体亚显微结构异常,且SNP-array有利于提高对颈项透明层增厚胎儿遗传病因的诊断。
Abstract:
Objective To evaluate the application value ofchromosome karyotype analysis and single nucleotide polymorphism microarray technology in genetic examination of nuchal translucency(NT)thickened fetuses.Methods The clinical data of 130 cases with NT thickness greater than 3.0 mm in early pregnancy(11～13+6 weeks)were retrospectivelyanalyzed,and the clinical data of interventional prenatal diagnosis of villi samples were analyzed.The karyotype analysis and chromosome microarray detectionof fetuses were statistically analyzed.Illumina Human Cyto SNP12 microarray chips were adopted for chromosome microarray analysis to test the Copy Number Variations(CNVs),and query the international pathological CNVs Database(ClinGen,ClinVar,DECIPHER and OMIM)and the Database of Genomic Variants(DGV)and PubMed literature database were used to analyze the pathogenicity of CNVs detected.Results Among the 130 fetal samples with nuchal translucency thickened,35 cases with chromosomal karyotype abnormality were detected,with the detection rate of 26.9%(35/130),and 44 cases with SNP-array abnormality were detected,with the detection rate of 33.8%(44/130).The abnormal rateof SNP-array was significantly higher than that of chromosomal karyotype abnormality,and the difference was statistically significant(χ2=6.23,P<0.05).In addition,chromosome micro-array technology detected 4 cases of micro-deletion,4 cases of micro-duplication and 1 case of uniparental disomy that could not be detected by karyotype analysis.Conclusion Forfetal samples with NT thickened detected by ultrasound,SNP-array detection ishelpful to detect chromosome submicroscopic abnormalities that cannot be detected by karyotype analysis,and SNP-array is helpful to improve the diagnosis of genetic causes of cervical transparent layer thickening fetus.

参考文献/References:

[1] 李胜利,陈秀兰.早孕期胎儿超声筛查[J/CD].中国产前诊断杂志(电子版),2012,4(3):23-28. LI Shengli,CHEN Xiulan.Fetal ultrasound screening in early pregnancy[J/OL].Chinese Journal of Prenatal Diagnosis(Electronic Version),2012,4(3):23-28. [2] 欧阳鲁平,陈少科,费冬梅,等.1 160例孕早期绒毛染色体细胞遗传学分析[J].重庆医学,2015,44(6):813-815. OUYANG Luping,CHEN Shaoke,FEI Dongmei,et al.Analysis of fetal chromosomal karyotypes in 1 160 pregnanty women during the first trimester of gestation[J].Chongqing Medicine,2015,44(6):813-815. [3] 林晓娟,孙庆梅,赵媛,等.早孕期超声检测胎儿颈项透明层及鼻骨的临床意义[J].中国妇幼健康研究,2016,27(2):246-249. LIN Xiaojuan,SUN Qingmei,ZHAO Yuan,et al.Clinical significance of ultrasonic testing of fetal nuchal trans slucency and nasal bone in early pregnancy[J].Chinese Journal of Women and Child Health Research,2016,27(2):246-249. [4] 洪怡清,陈萍.早孕期超声筛查研究进展[J].中国妇幼健康研究,2015,26(2):395-398. HONG Yiqing,CHEN Ping.Research progression of ultraso nographic screening in the first trismester[J].Chinese Journal of Women and Children Health Research,2015,26(2):395-398. [5] 翁宗杰,吴秋梅,刘敏,等.103例胎儿颈项透明层增厚与染色体核型及妊娠结局关系分析[J].福建医药杂志,2016,38(2):115-118. WENG Zongjie,WU Qiumei,LIU Min,et al.Analysis of the relationship between the thickening of the cervical hyaline layer and the karyotype and pregnancy outcome in 103 cases[J].Fujian Medical Journal,2016,38(2):115-118. [6] SALDANHA F A,BRIZOT MDE L,MORAES E A,et al.Increased fetal nuchal translucency thickness and normal karyotype: prenatal and postnatal follow-up[J].Rev Assoc Bras,2009,55(5):575-580. [7] BILANDO C M,MULLER M A,PAJKRT E,et al.Increased nuchal translucency thickness and normal karyotype:time for parental reassurance[J].Ultrasound Obstet Gynecol,2007,30(1):11-18. [8] MAYMON R,HERMAN A.The clinical evaluation and pregnancy outcome of euploid fetuses with increased nuchal translucency[J].Clin Genet,2004,66(5):426-436. [9] 蒋瑜,杨太珠,罗红.128例颈项透明层厚度异常染色体正常胎儿妊娠结局分析[J].中国超声医学杂志,2017,33(5):447-449. JIANG Yu,YANG Taizhu,LUO Hong.Pregnancy outcomes of 128 fetuses with increased nuchal translucency but normal karyotype[J].Chinese Journal ofUltrasound in Medicine,2017,33(5):447-449. [10] 庞婉容,龙驹,孙雷,等.42例流产组织、257例羊水样本和59例脐带血样本全染色体SNP基因芯片分析[J].中国优生与遗传杂志,2018,26(9):12-14,封4. PANG Wanrong,LONG Ju,SUN Lei,et al.SNP gene chip analysis on 42 casesof abortion,257 amniotic fluid and 59 umbilical cord blood samples[J].Chinese Journal of Birth Health and Heredity,2018,26(9):12-14,cover 4. [11] 杨鑫,符芳,李茹,等.染色体微阵列分析在核型正常的颈项透明层增厚胎儿中的应用[J].中华医学遗传学杂志,2015,32(3):370-374. YANG Xin,FU Fang,LI Ru,et al.Application of chromosome microarray analysis for fetuses with increased nucleus translucency and a normal karyotype[J].Chinese Journal of Medical Genetics,2015,32(3):370-374. [12] 周祎,鲁云涯,陈涌珍,等.颈项透明层增厚胎儿的产前诊断及预后分析[J].中山大学学报(医学科学版),2013,34(6):888-893. ZHOU Yi,LU Yunya,CHEN Yongzhen,et al.Fetal prenatal diagnosis and pregnancy outcome with increased nuchal translucency[J].Journal of Sun Yat-sen University(Medical Sciences),2013,34(6):888-893. [13] 王敏,王昊,毛爱芬,等.染色体微阵列联合核型分析在NT增厚胎儿的产前诊断研究[J].中国妇幼健康研究,2018,29(4):465-468. WANG Min,WANG Hao,MAO Aifen,et al.Chromosome microarray analysis combined with karyotype analysis in Prenatal diagnosis of fetuses with increased NT[J].Chinese Journal of Woman and Child Health Research,2018,29(4):465-468. [14] 张丽丽,梁青,邓学东,等.孕11～13+6周超声检测胎儿鼻骨和颈项透明层的临床研究[J/CD].中华医学超声杂志(电子版),2013,10(7):554-559. ZHANG Lili,LIANG Qing,DENG Xuedong,et al.The clinical study of prenatal ultrasound screening of fetal nasal bone and nuchal translucency at 11～13+6 weeks[J/CD].Chinese Journal of Medical Ultrasound(Electronic Edition),2013,10(7):554-559. [15] 侯莉,张冬梅,叶才为,等.超声检测早孕期颈项透明层增厚的临床价值[J].临床超声医学杂志,2017,19(9):637-639. HOU Li,ZHANG Dongmei,YE Caiwei,et al.Clinical value of measuring nuchal translucency thickening by ultrasound in early pregnancy[J].Journal of Clinical Ultrasound in Medicine,2017,19(9):637-639. [16] HARPER L M,SUTTON A L,LONGMAN R E,et al.An economic analysis of prenatal cytogenetic technologies for sonographically detected fetal anomalies[J].Am J Med Genet A,2014,164(5):1192-1197.

备注/Memo

备注/Memo:
基金项目:广西自然科学基金项目(2016JJB140208); 广西壮族自治区卫健委自筹课题(Z20190054)。 作者简介:欧阳鲁平(1984-),男,学士学位,主管技师,研究方向:临床遗传学研究,E-mail:501284328@qq.com。 通讯作者:孙惟佳(1986-),女,硕士研究生,主治医师,研究方向:临床遗传学研究,E-mail:24154180@qq.com。
更新日期/Last Update: 2019-10-20