羊水细胞高通量测序产前诊断Williams综合征

详细信息    查看全文 | 推荐本文 |

英文篇名：Prenatal diagnosis of Williams syndrome using NGS to test the amniotic fluid 作者：阮琰 ; 许晓光 ; 徐丹萍 ; 阮智芝 英文作者：RUAN Yan;XU Xiao-guang;XU Dan-ping;RUAN Zhi-zhi;Zhejiang Taizhou Linhai,Enze Medical Center,Clique Zhejiang Taizhou Hospital,Reroductive Center; 关键词：Williams综合征 ; 高通量测序 ; 染色体微缺失/微重复 ; 产前诊断 英文关键词：Walliams syndrome;;Next generation sequencing;;Chromosomal microdeletion/microduplication;;Prenatal diagnosis 中文刊名：ZYYA 英文刊名：Chinese Journal of Birth Health & Heredity 机构：浙江台州临海恩泽医疗中心(集团)浙江省台州医院生殖中心; 出版日期：2018-12-25 出版单位：中国优生与遗传杂志 年：2018 期：v.26 语种：中文; 页：ZYYA201812020 页数：2 CN：12 ISSN：11-3743/R 分类号：57-58

摘要

目的通过对羊水细胞DNA高通量测序(即第二代基因测序技术,next?generation?sequencing,NGS)诊断Williams综合征,探讨NGS在产前诊断中的应用价值。方法对1例超声发现胎儿生长发育异常的孕妇进行羊膜腔穿刺术,提取羊水细胞DNA,进行测序分析。结果高通量测序结果显示胎儿染色体7q11.23区域存在2.42Mb的缺失,家系调查该缺失来自孕妇本人。结论对超声发现胎儿生长发育异常时,建议进行羊水细胞DNA高通量测序,产前诊断排除Williams综合征等染色体微缺失/微重复。
        Objective:Through the diagnosis of Williams syndrome by using the high-throughput sequencing technique(next generation sequencing,NGS)to test the DNA in maternal amniotic fluid,in order to explore the application value of NGS in prenatal diagnosis. Methods:Amniocentesis was performed to who with the fetal abnormal growth shown by the ultrasound,the amniotic fluid DNA were extracted and tested using the NGS. Results:By NGS,a deletion of 2.42 Mb in chromosomal 7 q11.23 was discovered,the deletion was derived from the pregnant women. Conclusion:We advice to do the NGS to the amniotic fluid cell who with the fetal abnormal growth,to exclude the chromosomal microdeletion/microduplication syndromes.

引文

[1]Pober BR. Williams-Beuren Syndrome[J].N Engl J Med,2010,362(3):239-252.
    [2]朱海燕,季春燕,张海荣.两例Williams综合征患者的基因型及表型分析[J].中华医学遗传学杂志,2016,33(1):68-70.
    [3]Brawn G,Porter M. Adaptive functioning in Williams syndrome and its relation to demographic variables and family environment[J].Res DevDisabil,2014,35(12):3606-3623.
    [4]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.
    [5]WeiseA,MrasekK,KleinE,et.Microdeletionand microduplication syndromes[J]. J Histochem Cytochem. 2012;60(5):346-358.
    [6]王增阁,郭奇伟,周裕林.染色体微缺失微重复综合征遗传检测的现状及展望[J].中华检验医学杂志,2016,39(6):407-409.
    [7]NevadoJ,MergenerR,Palomares-BraloM,etal.New microdeletion and microduplication syndromes:A comprehensive review[J]. Genet Mol Biol,2014,37(1 Suppl):210-219.
    [8]黄辉,陈冬娜,吴静,等.高通量测序技术在罕见病分子诊疗中的应用及临床实例分析[J].药学进展,2016,40(6):420-428.
    [9]何冰,黄莉,张鹏,等.羊水细胞高通量测序与染色体核型分析在产前诊断中的应用研究[J].中国临床新医学,2015,8(12):1113-1116.
    [10]王彦林,程蔚蔚.高通量二代测序在预防出生缺陷产前诊断中的作用[J].中国计划生育和妇产科,2016.8(1).1-5.
    [11]唐新华,杨必成,朱姝,等.染色体核型分析与BoBs技术联合检测染色体异常及染色体微缺失综合征的产前诊断新模式的建立及应用[J].中华妇产科杂志,2016,51(5):325-330.
    [12] Liang D,Peng Y,Lv Wet al.Copy number variation sequencing for comprehensive diagnosis of chromosome disease syndromes[J].J Mol Diagn.2014;16(5):519-526.