Research on medians of serum markers in prenatal screening during the first and second trimester of pregnancy

Gao Gang; Lin Xiaojie; Zhang Li; Zhu Jinping; Feng Tong; Qiu Jigang; Zhao Rui; Yu Qingmei

doi:10.3760/cma.j.issn.1673-4386.2019.02.004

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孕早中期产前筛查血清标志物中位数的研究

国际遗传学杂志, 2019,42(2) : 120-123. DOI: 10.3760/cma.j.issn.1673-4386.2019.02.004

摘要

目的

通过对临沂地区大样本的孕早中期产前筛查，修正本地区筛查中心血清标记物的中位数。

方法

采用时间分辨荧光免疫法检测孕妇孕早期血清的PAPP-A及其孕中期的hAFP、β-HCG和uE3，运用Lifecycle分析软件计算风险值，建立临沂地区孕早中期产前筛查的中位数。同时对筛查结果为高风险者行进羊水细胞染色体核型分析，随访追踪孕妇的妊娠结局。

结果

在8408例孕早中期的受检孕妇中高风险者285例，确诊异常者13例，但发生漏诊2例。孕早中期筛查检出率86.67%、假阳性率3.24 %、阳性预测值4.56%。

结论

孕早中期产前筛查是一种有效且必要的手段，建立孕早中期产前筛查的中位数对本地区产前筛查具有重要意义。

引用本文: 高刚, 林晓杰, 张力, 等. 孕早中期产前筛查血清标志物中位数的研究 [J] . 国际遗传学杂志,2019,42 (2): 120-123. DOI: 10.3760/cma.j.issn.1673-4386.2019.02.004

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除非特别声明，本刊刊出的所有文章不代表中华医学会和本刊编委会的观点。

唐氏综合征(Down's syndrome，DS)又称21-三体综合征，在正常人群中发病率为1/800～1/600^[1]。该病患者智力低下多伴有畸形，而且迄今为止没有有效的治疗措施，生活方面不能自理，需专人长期照顾，因此给家庭带来沉重的精神压力和经济负担。

贡献者信息

高刚

临沂市妇女儿童医院　276001

林晓杰

临沂市妇女儿童医院　276001

张力

临沂市妇女儿童医院　276001

朱金萍

临沂市妇女儿童医院　276001

冯桐

临沂市妇女儿童医院　276001

邱吉刚

临沂市妇女儿童医院　276001

赵瑞

临沂市妇女儿童医院　276001

于清梅

山东医学高等专科学校，临沂　276001

通信作者

于清梅

山东医学高等专科学校，临沂　276001

Email：rain0539@163.com

关键词

孕早中期; 产前筛查; 血清标志物; 中位数;

基金项目

山东省医药卫生科技发展计划项目（2016WS0221）

利益冲突

利益冲突　所有作者均声明不存在利益冲突

历史

出版日期：2019-04-15

收稿日期：2019-01-07

Orginal Article

Research on medians of serum markers in prenatal screening during the first and second trimester of pregnancy

Gao Gang, Lin Xiaojie, Zhang Li, Zhu Jinping, Feng Tong, Qiu Jigang, Zhao Rui, Yu Qingmei

Published 2019-04-15

Cite as Int J Genet, 2019,42(2): 120-123. DOI: 10.3760/cma.j.issn.1673-4386.2019.02.004

Abstract

Objective

To correct the median of serum markers in screening centres in Linyi by prenatal screening of large samples in the first and second trimester.

Methods

Time-resolved fluorescence immunoassay was used to detect serum markers of pregnancy associated plasma protein A (PAPP-A) in the early pregnancy, alpha fetoprotein (hAFP), β-HCG and unconjugated estriol(uE3) in the second trimester of pregnancy. Lifecycle analysis software was used to calculate DS risk value, then the median values for the first and second trimester prenatal screening in Linyi area was established. At the same time, the patients with high-riskscreening resultsmarched on karyotype analysis of amniotic fluid cells, and the pregnancy outcomes of pregnant women were followed up.

Results

Among 8408pregnancy women receiving prenatal serum screeningin the early and mid-pregnancy, 285 were screened for high risk, 13 cases were diagnosed as abnormal, but 2 cases were missed.The detection rate of early pregnancy screening was 86.67%, the false positive rate was 3.24%, and the positive predictive value was 4.56%.

Conclusion

Prenatal screening during the first and second trimester of pregnancy is an effective and necessary tool. Establishing the median values for the first and second trimester prenatal screening is importantin the region.

Key words:

The first and second trimester; Prenatal screening; Serum marker; Median

Contributor Information

Gao Gang