染色体微阵列分析技术在胎儿颈项透明层增厚中的应用

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Abstract Chromosomal microarray analysis (CMA) is a newly developed prenatal diagnosis technology, which has been widely used due to its huge advantages. Its advantages are Kb level resolution, high sensitivity and specificity, high degree of automation and high efficiency etc., it can not only detect chromosome number and unbalanced structural abnormalities, but also detect copy number variation (CNV) caused by unbalanced rearrangement at the level of chromosomal sub microstructure. Therefore, it has gained favor in clinical detection, become the tool of clinical genetic routine diagnosis, and has been introduced into prenatal fetal genetic disease detection. The measurement of nuchal translucency (NT) has been widely used as one of the routine screening items in early pregnancy. Many studies have found that NT thickening is a sensitive index of fetal chromosomal abnormalities. CMA has been used as a first-line diagnostic technique for prenatal genetic screening. In the detection rate of chromosomal abnormalities when NT abnormality is detected by ultrasound, CMA is significantly higher than that of conventional karyotype analysis. However, it is not clear whether CMA can be used as a first-line detection method for prenatal diagnosis. In application, it is necessary to pay special attention to the explanation and inheritance of gene CNV of clinical significance consultation. In this paper, we will review the application, advantages and challenges of microarray analysis in the thickening of NT.

Key words： Thickening of nuchal transparent Chromosome microarray analysis technique Prenatal diagnosis

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	DING Xiaorui1 LIU Aiju2▲ YANG Xiaoyan2 ZHANG Junhui2

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DING Xiaorui1 LIU Aiju2▲ YANG Xiaoyan2 ZHANG Junhui2. Application of chromosome microarray analysis in thickening of transparent layer of fetal neck[J]. 中国医药导报, 2020, 17(17): 45-48,56.

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http://www.yiyaodaobao.com.cn/EN/ OR http://www.yiyaodaobao.com.cn/EN/Y2020/V17/I17/45

[1] Lichtenbelt KD，Diemel BD，Koster MP，et al. Detection of fetal chromosomal anomalies：does nuchal translucency measureme NT have added value in the era of non-invasive prenatal testing? [J]. Prenat Diagn，2015，35（1）：663-668.
[2] Jelliffe-Pawlowski LL，Norton ME，Shaw GM，et al. Risk of critical congenital heart defects by nuchal translucency norms [J]. Am J Obstet Gynecol，2015，212（4）：518.e1-e10.
[3] 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.
[4] Konialis C，Pangalos C. Dilemmas in prenatal chromosomal diagnosis revealed through a single center′s 30 years′ experience and 90 000 cases [J]. Fetal Diagn Ther，2015， 38（3）：218-232.
[5] Lund IC，Christensen R，Petersen OB，et al. Chromosomal microarray in fetuses with increased nuchal translucency [J]. Ultrasound Obstet Gynecol，2015，45（1）：95-100.
[6] Grande M，Jansen FA，Blumenfeld YJ，et al. Genomic microarray in fetuses with increased nuchal translucency and normal karyotype：a systematic review and meta—analysis [J]. Ultrasound Obstet Gynecol，2015，46（6）：650-658.
[7] 董雪琴，叶风，吴洁丽，等.11~13周胎儿超声与染色体异常的关系[J].中国优生与遗传杂志，2015，23（1）：41-45.
[8] Szabo J，Gellen J. Nuchal fluid accumulation in trisomy-21 detected by vaginosonography in first trimester [J]. Lancet，1990，336（8723）：1133.
[9] Nicolaides KH，Azar G，Byrne D，et al. Fetal nuchal translucency ultrasound screening for chromosomal defects in first trimester of pregnancy [J]. BMJ，1992，304（6831）：867-869.
[10] Sun LJ，Wang X，Wu QQ. Value of nuchal translucency thickening in the fetal chromosome abnormality screening [J]. Zhong Hua Fu Chan Ke Za Zhi，2013，48（11）：819-823.
[11] Yang X，Li R，Fu F，et al. Submicroscopic chromosomal abnormalities in fetuses with increased nuchal translucency and normal karyotype [J]. J Matern Fetal Neonatal Med，2017，30（2）：194-198.
[12] 董媛，司艳梅，张萌，等.胎儿NT厚度与染色体异常的关系探讨[J].中国优生与遗传杂志，2017，25（3）：53-55，48.
[13] 刘伟明.超声检查颈项透明层增厚在胎儿染色体异常诊断中的价值分析[J].中国医疗器械信息，2018，24（9）：80-81.
[14] 张春蓉，姜川，郑远琴.超声检查NT增厚在胎儿染色体异常筛查中的诊断价值[J].中国继续医学教育，2018， 10（32）：69-71.
[15] Bilardo CM，Timmerman E，Pajkrt E，et al. Increased nuchal translucency in euploid fetuses-what should we be telling the parents [J]. Prenat Diagn，2010，30（20）：93-102.
[16] 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.
[17] Leung TY，Vogel I，Lau TK，et al. Identification of submicroscopic chromosomal aberrations in fetuses with increased nuchal translu-cency and apparently normal karyotype [J]. Ultrasound Obstet Gynecol，2011，38（3）：314-319.
[18] Wou K，Levy B，Wapner RJ. Chromosomal Microarrays for the Prenatal Detection of Microdeletions and Microduplications [J]. Clin Lab Med，2016，369（2）：261-276.
[19] Hardisty EE，Vora NL. Advances in genetic prenatal diagnosis and screening [J]. Curr Opin Pediatr，2014，26（6）：634-638.
[20] Sinkey RG，Odibo AO. Cost-Effectiveness of old and new technologies for aneuploidy screening [J]. Clin Lab Med，2016，36（2）：237-248.
[21] Lo JO，Shaffer BL，Feist CD，et al. Chromosomal microarray analysis and prenatal diagnosis [J]. Obstet Gynecol Surv，2014，69（10）：613-621.
[22] Coppinger J，Alliman S，Lamb AN，et al. Whole-genome microarray analysis in prenatal specimens identifies clinically significant chromosome alterations without increase in results of unclear significance compared to targeted microarray [J]. Prenat Diagn，2009，29（12）：1156-1166.
[23] Miller DT，Adam MP，Aradhya S，et al. Consensus statement：chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies [J]. Am J Hum Genet，2010， 86（5）：749-764.
[24] American College of Obstetricians and Gynecologists Committee on Genetics Committee Opinion No.581：the use of chromosomal microarray analysis in prenatal diagnosis [J]. Obstet Gynecol，2013，122（6）：1374-1377.
[25] 染色体微阵列分析技术在产前诊断中的应用协作组.染色体微阵列分析技术在产前诊断中的应用专家共识[J].中华妇产科杂志，2014，49（8）：570-573.
[26] 中国医师协会医学遗传学分会，中国医师协会青春期医学专业委员会临床遗传学组，中华医学会儿科学分会内分泌遗传代谢学组.染色体基因组芯片在儿科遗传病的临床应用专家共识[J].中华儿科杂志，2016，54（6）：410-413.
[27] Law LW，Lau TK，Fung TY，et al. De novo 16p13.11 microdeletion identified by high-resolution array CGH in a fetus with increased nuchal translucency [J]. BJOG，2009，116（2）：339-343.
[28] Leung TY，Vogel I，Lau TK，et al. Identification of submicroscopic chromosomal aberrations in fetuses with increased nuchal translucency and apparently normal karyotype [J]. Ultrasound Obstet Gynecol，2011，38（3）：314-319.
[29] 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.
[30] 李志华.微阵列比较基因组杂交技术在NT增厚胎儿产前诊断中的应用价值[A].中华医学会、中华医学会医学遗传学分会、中国医师协会医学遗传医师分会、中国遗传学会人类与医学遗传专业委员会.中华医学会第十五次全国医学遗传学学术会议暨中国医师协会医学遗传医师分会第一届全国学术会议暨2016年浙江省医学遗传学年会论文汇编[C].中华医学会、中华医学会医学遗传学分会、中国医师协会医学遗传医师分会、中国遗传学会人类与医学遗传专业委员会：浙江省科学技术协会，2016：1.
[31] 薛淑雅，陈兢思，张慧敏，等.颈部透明层增厚与染色体异常的相关分析[J].实用妇产科杂志，2019，35（5）：382-385.
[32] Schou KV，Kirchhoff M，Nygaard U，et al. Increased nuchal translucency with normal karyotype：a follow-up study of 100 cases supplemented with CGH and MLPA analyses [J]. Ultrasound Obstet Gynecol，2009，34（6）：618-622.
[33] Scott F，Murphy K，Carey L，et al. Prenatal diagnosis using combined quantitative fluorescent polymerase chain reaction and array comparative genomic hybridization analysis as a first-line test：results from over 1000 consecutive cases [J]. Ultrasound Obstet Gynecol，2013，41（6）：500-507.
[34] Huang J，Poon LC，Akolekar R，et al. Is high fetal nuchal translucency associated with submicroscopic chromosomal abnormalities on array CGH？[J]. Ultrasound Obstet Gynecol，2014，43（6）：620-624.