[1]张 燕,王 亿,缑灵山,等.孕妇外周血胎儿游离DNA 高通量测序在产前非整倍体核型遗传筛查中的应用[J].现代检验医学杂志,2020,35(02):6-8.[doi:10.3969/j.issn.1671-7414.2020.02.002]
 ZHANG Yan,WANG Yi,GOU Ling-shan,et al.Application of High-throughput Sequencing in Fetal Free DNA in MaternalPeripheral Blood in Prenatal Aneuploidy Karyotype Genetic Screening[J].Journal of Modern Laboratory Medicine,2020,35(02):6-8.[doi:10.3969/j.issn.1671-7414.2020.02.002]
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孕妇外周血胎儿游离DNA 高通量测序在产前非整倍体核型遗传筛查中的应用()
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《现代检验医学杂志》[ISSN:/CN:]

卷:
第35卷
期数:
2020年02期
页码:
6-8
栏目:
论 著
出版日期:
2020-05-24

文章信息/Info

Title:
Application of High-throughput Sequencing in Fetal Free DNA in MaternalPeripheral Blood in Prenatal Aneuploidy Karyotype Genetic Screening
文章编号:
1671-7414(2020)02-006-04
作者:
张 燕1 王 亿1 缑灵山1 王 鹏1方 媛1 王传霞1 王 娜2索 峰1 顾茂胜1
(1. 徐州市妇幼保健院遗传医学中心,江苏徐州 221000;2. 苏州贝康医疗器械有限公司,江苏苏州 215123)
Author(s):
ZHANG Yan1 WANG Yi1 GOU Ling-shan1 WANG Peng1 FANG Yuan1 WANG Chuan-xia1WANG Na2 SUO Feng1 GU Mao-sheng1
(1.Genetic Medicine Center,Xuzhou Maternity and Child Health Care Hospital, Jiangsu Xuzhou 221000, China;2.Suzhou Beikang Medical Device Co.Ltd, Jiangsu Suzhou 215123, China)
关键词:
胎儿游离DNA产前筛查非整倍体无创产前检测21 三体综合征
分类号:
R714.55;R446.7
DOI:
10.3969/j.issn.1671-7414.2020.02.002
文献标志码:
A
摘要:
目的 探讨孕妇外周血胎儿游离DNA 无创产前检测(non-invasive prenatal testing,NIPT)技术在评估胎儿染色体非整倍体风险中的临床应用价值。方法 选取2018 年4 月~ 2019 年10 月于徐州市妇幼保健院进行NIPT 检测的8 001 例孕妇,提取其静脉血血浆中胎儿游离DNA,利用高通量基因测序平台进行测序分析,高风险者进行羊膜腔穿刺术及染色体核型分析进行确诊诊断,低风险者常规产检。结果 8 001 例样本中共检出21,18 和13 三体高风险34 例(0.425%),其中包括28 例21 三体综合征(21 trisomic syndrome,T21),4 例18 三体综合征(18 trisomic syndrome,T18),2 例13 三体综合征(13 trisomic syndrome,T13)。所有高风险者均行羊水染色体核型分析,确诊19 例T21,3 例T18,1 例T13,复合阳性预测值为67.65%。所有检测者筛查指征分组中,彩超提示有与染色体异常相关的软指标异常组的阳性率最高(1.010%),其次为产筛高风险组、高龄组、产筛临界风险组,孕妇要求及其他筛查指征组阳性率最低。六组数据差异不具有统计学意义(χ2=5.454,P > 0.05)。结论 NIPT 检测技术因其具有高通量性、高检出率、无创性等优点,使其在临床具有越来越广泛的应用前景,但该技术存在的假阳性率及假阴性率不可避免,所以检出高风险者需进一步确诊,低风险者仍需常规产检避免假阴性。

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备注/Memo

备注/Memo:
基金项目:江苏省妇幼健康科研课题(F201819);徐州市科技计划项目(KC18175; KC18027);江苏省双创博士高层次人才项目。作者简介:张燕(1990-),女,本科,技师,从事分子遗传学筛查及诊断工作,E-mail:zhangyanxz2014@163.com。通讯作者:索峰(1985-),男,硕士研究生,助理研究员,E-mail:suofeng163@163.com。收稿日期:2020-01-02修回日期:2020-01-08
更新日期/Last Update: 2020-04-30