[1]孟凡萍,郝 坡.渝东北地区胎儿染色体非整倍体疾病的NITP分析[J].现代检验医学杂志,2019,34(02):48-51.[doi:10.3969/j.issn.1671-7414.2019.02.013]
 MENG Fan-ping,HAO-Po.NITP Analysis of Fetal Chromosomal Aneuploidy Diseasein Northeast of Chongqing[J].Journal of Modern Laboratory Medicine,2019,34(02):48-51.[doi:10.3969/j.issn.1671-7414.2019.02.013]
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渝东北地区胎儿染色体非整倍体疾病的NITP分析()
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《现代检验医学杂志》[ISSN:/CN:]

卷:
第34卷
期数:
2019年02期
页码:
48-51
栏目:
论著
出版日期:
2019-05-11

文章信息/Info

Title:
NITP Analysis of Fetal Chromosomal Aneuploidy Diseasein Northeast of Chongqing
文章编号:
1671-7414(2019)02-048-04
作者:
孟凡萍1郝 坡2
(1.重庆三峡中心医院检验科基因检测中心,重庆 404000; 2.重庆三峡医药高等专科学校医学技术学院,重庆 404020)
Author(s):
MENG Fan-ping1HAO-Po2
(1.Gene Detection Center of Laboratory Department,ChongqingThree Gorges Central Hospital,Chongqing 404000,China; 2.College of MedicalTechnology,Chongqing Three Gorges Medical College,Chongqing 404020,China)
关键词:
胎儿游离DNA 无创产前基因检测 二代测序 染色体非整倍体
分类号:
R714.55
DOI:
10.3969/j.issn.1671-7414.2019.02.013
文献标志码:
A
摘要:
目的 应用无创产前基因检测(noninvasive prenatal genetic testing,NIPT)技术研究渝东北地区胎儿染色体非整倍体疾病的发病率和年龄分布。方法 利用美国life公司二代测序平台及生物信息分析技术,分析2016年7月~2018年5月在重庆三峡中心医院基因检测中心行NIPT检测的2 784例12~24周孕妇的外周血,从中获取胎儿染色体相关信息。对NIPT结果为高风险的孕妇实施羊膜腔穿刺及胎儿染色体核型分析,对NIPT结果为低风险的孕妇进行电话随访至出生后。结果 渝东北地区孕妇染色体非整倍体疾病高风险阳性检出率为0.72%(20/2 784)。其中≥40岁阳性率为2.97%,30~39岁阳性率为0.75%,<30岁阳性率为0.54%。羊膜腔穿刺分析显示,21-三体、18-三体高风险诊断符合率为100%(11/11,2/2),13-三体高风险诊断符合率为80.00%(4/5)。NIPT诊断胎儿染色体非整倍体疾病的敏感度为100.00%(2 784/2 784),总特异度为94.44%(17/18),总假阳性率为0.03%(1/2 784),假阴性率为0.00%(0/0)。结论 渝东北地区NIPT检测胎儿染色体非整倍体疾病的阳性检出率为0.72%,检出主要以21-三体为主,占61%,≥40岁高龄孕妇NIPT阳性率较其他年龄组明显升高,达2.97%。
Abstract:
Objective To study the incidence and age distribution of fetal chromosome non-aneuploid disease in Northeastern Chongqing by using noninvasive prenatal genetic testing(NIPT).Methods Using the second generation sequencing platform and bioinformation analysis technology of the US life company,the peripheral blood of 2 784 cases 12~24 weeks pregnant women tested by NIPT at the Genetic Testing Center of Chongqing Three Gorges Center Hospital from July 2016 to May 2018 was analyzed to obtain fetal chromosome information,analyzed amniocentesis and fetal karyotype of pregnant women with high risk of NIPT results,and the pregnant women with low risk of NIPT results were followed up by telephone until after birth.Results The high risk positive detection rate of chromosome non-aneuploid disease in pregnant women in Northeastern Chongqing was 0.72%(20/2 784).Among them,the positive rate of 40 years and above was 2.97%,the positive rate of 30~39 years old was 0.75%,and the positive rate of under 30 years old was 0.54%.Amniotic fluid puncture analysis showed that the high-risk diagnosis compliance rate of 21-trisomes and 18-trisomes was 100%(11/11,2/2),and the high-risk diagnosis compliance rate of 13-trisomes was 80.00%(4/5).The sensitivity of NIPT to diagnosis of fetal chromosome non-aneuploid disease was 100.00%(2 784/2 784),the total specificity was 94.44%(17/18),and the total false positive rate was 0.03%(1/2 784),the false negative rate was 0.00%(0/0).Conclusion The positive detection rate of NIPT fetal chromosome non-aneuploid disease in northeast chongqing was 0.72%, mainly 21-triploid detection,accounting for 61%.The positive rate of NIPT in 40-year-old pregnant women was significantly higher than other age groups, reaching 2.97%.

参考文献/References:

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备注/Memo

备注/Memo:
基金项目:重庆市万州区科研项目(20B02002),重庆三峡医药高等专科学校课题(2014mpxz18)。 作者简介:孟凡萍(1980-),女,医学博士,副主任检验师,主要从事脂代谢和胰岛素抵抗方面研究,E-mail:524974613@qq.com。 通讯作者:郝 坡,男,副教授,主要从事基因检测方面的工作,E-mail:hpo1979@126.com。 收稿日期:2019-01-25 修回日期:2019-02-12
更新日期/Last Update: 2019-04-30