孕妇无创DNA产前检测结果分布及异常情况因素分析

doi:10.12183/j.scjpm.2021.1139

华南预防医学 ›› 2021, Vol. 47 ›› Issue (9): 1139-1143.doi: 10.12183/j.scjpm.2021.1139

孕妇无创DNA产前检测结果分布及异常情况因素分析

黄艳君, 吕亚, 周冠琼, 朱燕, 杨明明

无锡市锡山人民医院东南大学附属中大医院无锡分院,江苏无锡 214105

收稿日期:2021-01-29 发布日期:2021-10-18
通讯作者: 吕亚,E-mail:huangyanjunhn@163.com
作者简介:黄艳君（1977—）,女,大学本科,副主任护师,研究方向：妇产科护理及管理
基金资助:
无锡市卫生和健康委员会面上项目（MS201951）

Distribution of non-invasive prenatal testing results and influencing factors of abnormalities among pregnant women

HUANG Yan-jun, LYU Ya, ZHOU Guan-qiong, ZHU Yan, YANG Ming-ming

Wuxi Xishan People's Hospital, Wuxi Branch of Zhongda Hospital Affiliated to Southeast University, Wuxi 214105, China

Received:2021-01-29 Published:2021-10-18

摘要/Abstract

摘要： 目的分析孕妇无创DNA产前检测（NIPT）结果分布及异常情况,并探讨影响NIPT高风险产前诊断和染色体核型分析阳性预测值的可能因素。方法选取2018年1月至2020年12月在无锡市某医院行NIPT的16 523名单胎妊娠孕妇作为研究对象,对NIPT检测结果高风险者进一步进行染色体核型分析。采用描述流行病学分析方法对结果进行分析。结果 16 523名孕妇中NIPT高风险例数为183例,NIPT高风险检出率为1.11%。不同年龄、血清学筛查结果、胎儿超声软指标（USM）结果、胎儿颈项透明层厚度（NT）的孕妇NIPT高风险检出率差异有统计学意义（均P<0.01）。150例接受羊水穿刺染色体核型分析,染色体核型检查率为81.97%。产前诊断的选择与胎儿NT有关（P<0.05）。染色体核型分析的阳性预测值为68.67%（103/150）。其中21-三体（T21）、18-三体（T18）、13-三体（T13）、性染色体非整倍体（SCAs）及其他染色体异常的染色体核型分析阳性预测值分别为90.57%、68.75%、54.55%、71.43%、14.29%。染色体异常结果类型、USM异常、NT均影响染色体核型分析的阳性预测值（P<0.05或P<0.01）。结论孕妇NIPT高风险检出以T21和SCAs为主,孕妇年龄、血清学筛查结果及USM、NT均影响NIPT高风险检出率。NIPT结果的准确度与染色体异常结果类型、USM异常和NT有关。

关键词: 无创DNA产前检测, 染色体异常, 产前诊断, 核型分析

Abstract: Objective To investigate the distribution and abnormalities of non-invasive prenatal testing （NIPT） results in pregnant women, and explore the factors influencing the positive predictive value of NIPT high-risk prenatal diagnosis and karyotype analysis. Methods The 16 523 pregnant women who underwent NIPT at a hospital from January 2018 to December 2020 were selected as the research subjects, and karyotype analysis was performed on those with high risk of NIPT results. The results were analyzed by descriptive epidemiological analysis method. Results Among 16 523 pregnant women, 183 cases had high risk of NIPT, and the high risk rate was 1.11%. There were significant differences in the high risk rate of NIPT among pregnant women with different age, serological screening results, abnormal ultrasound soft markers （USM） and nuchal translucency （NT）（all P<0.01）. A total of 150 cases received amniocentesis chromosome karyotype analysis, the karyotype examination rate was 81.97%. The choice of prenatal diagnosis was related to fetal NT （P<0.05）. The positive predictive value of karyotype analysis was 68.67% （103/150）. Among them, the positive predictive values of 21-trisomy （T21）, 18-trisomy （T18）, 13-trisomy （T13）, sex chromosome aneuploidy （SCAs） and other chromosomal abnormalities were 90.57%, 68.75%, 54.55%, 71.43% and 14.29%, respectively. The results of chromosomal abnormalities, USM abnormalities and NT all affected the positive predictive value of karyotype analysis （P<0.05 or P<0.01）. Conclusion T21 and SCAs are the main risk factors of NIPT in pregnant women. Maternal age, serological screening results, USM and NT all affect the detection rate of NIPT. The accuracy of NIPT results was related to the types of chromosomal abnormalities, USM abnormalities and NT.

Key words: Non-invasive prenatal testing, Chromosome abnormality, Prenatal diagnosis, Karyotype analysis

中图分类号:

R714.5

黄艳君, 吕亚, 周冠琼, 朱燕, 杨明明. 孕妇无创DNA产前检测结果分布及异常情况因素分析[J]. 华南预防医学, 2021, 47(9): 1139-1143.

HUANG Yan-jun, LYU Ya, ZHOU Guan-qiong, ZHU Yan, YANG Ming-ming. Distribution of non-invasive prenatal testing results and influencing factors of abnormalities among pregnant women[J]. South China Journal of Preventive Medicine, 2021, 47(9): 1139-1143.

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孕妇无创DNA产前检测结果分布及异常情况因素分析

Distribution of non-invasive prenatal testing results and influencing factors of abnormalities among pregnant women

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