• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验

[孕中期孕妇血清学检测唐氏综合征筛查分析]

[Analysis of Down syndrome screening by maternal serum detection in mid-pregnancy].

作者信息

Liu Yan-hui, Li Li-fen, Wu Ya-min

机构信息

Department of Medical Genetics, Tung Wah Hospital, Sun Yat-sen University, Guangzhou, China.

出版信息

Nan Fang Yi Ke Da Xue Xue Bao. 2010 Mar;30(3):532-4, 537.

PMID:20335129
Abstract

OBJECTIVE

To study the clinical value of screening chromosomal diseases and abnormal pregnancy by maternal serum examination in mid-pregnancy.

METHODS

Maternal serum AFP and F-beta hCG were detected in the mid-pregnancy (16-20 weeks) using commercially available detection kits, and the risk of Down syndrome was calculated taking into account of such factors as the maternal age, gestational age, and body weight. Those at high risk underwent amino fluid or cordocentesis for fetal karyotpying. The pregnant women were divided into >or=35 years and <35 years groups, and high and low risk for Down syndrome groups for test results and pregnancy outcome analysis.

RESULTS

Of the 6000 pregnant women undergoing antenatal screening, 552 were identified to be at high risk of Down syndrome (9.2%) with one missing case of detection, and 463 of the high-risk cases underwent amino fluid or cordocentesis examination. Twenty-seven cases were found to have abnormal chromosomes, and abortion was suggested in 14 cases but not in the other 13 cases where other chromosomal abnormalities such as polymorphic mutations were found. The screening positive rate in >or=35 years and <35 years group was 95.5% and 8.2% (P<0.0001), with fetal chromosomal abnormality rate of 4.5% and 2.9%, respectively (P>0.5). The rate of abnormal pregnant outcomes for high and low risk groups was 5.6% and 0.05% (P<0.0001), with pregnancy complication rate of 11.8% and 3.7% (P<0.0001) and fetal chromosomal polymorphic mutation rate of 2.8% and 1.1% (P>0.5), respectively.

CONCLUSION

Maternal serum AFP and F-beta hCG levels in second trimester have important values in predicting fetal chromosomal diseases, and their detection may help reduce the birth defect rate and prevent abnormal pregnancy outcomes and complications.

摘要

目的

探讨孕中期孕妇血清学检查筛查染色体疾病及异常妊娠的临床价值。

方法

采用市售检测试剂盒检测孕中期(16 - 20周)孕妇血清甲胎蛋白(AFP)和游离β-人绒毛膜促性腺激素(F-βhCG),并结合孕妇年龄、孕周、体重等因素计算唐氏综合征风险。对高危孕妇行羊水或脐血穿刺进行胎儿染色体核型分析。将孕妇分为年龄≥35岁组和年龄<35岁组,以及唐氏综合征筛查高风险组和低风险组,进行检测结果及妊娠结局分析。

结果

6000例接受产前筛查的孕妇中,552例被确定为唐氏综合征高危(9.2%),漏检1例,463例高危孕妇接受了羊水或脐血穿刺检查。发现27例染色体异常,14例建议终止妊娠,另13例发现其他染色体异常如多态性突变未建议终止妊娠。年龄≥35岁组和年龄<35岁组筛查阳性率分别为95.5%和8.2%(P<0.0001),胎儿染色体异常率分别为4.5%和2.9%(P>0.5)。高风险组和低风险组异常妊娠结局发生率分别为5.6%和0.05%(P<0.0001),妊娠并发症发生率分别为11.8%和3.7%(P<0.0001),胎儿染色体多态性突变率分别为2.8%和1.1%(P>0.5)。

结论

孕中期孕妇血清AFP和F-βhCG水平对预测胎儿染色体疾病具有重要价值,检测有助于降低出生缺陷率,预防异常妊娠结局及并发症。

相似文献

1
[Analysis of Down syndrome screening by maternal serum detection in mid-pregnancy].[孕中期孕妇血清学检测唐氏综合征筛查分析]
Nan Fang Yi Ke Da Xue Xue Bao. 2010 Mar;30(3):532-4, 537.
2
[Serum screening of fetal chromosome abnormality during second pregnancy trimester: results of 26,803 pregnant women in Jiangsu Province].孕中期胎儿染色体异常血清学筛查:江苏省26803例孕妇的筛查结果
Zhonghua Yi Xue Za Zhi. 2007 Sep 18;87(35):2476-80.
3
Dimeric inhibin A as a marker for Down's syndrome in early pregnancy.二聚体抑制素A作为孕早期唐氏综合征的标志物。
N Engl J Med. 1996 May 9;334(19):1231-6. doi: 10.1056/NEJM199605093341904.
4
Second-trimester maternal serum screening for Down syndrome in Mainland China.中国大陆孕中期唐氏综合征的母体血清筛查。
Prenat Diagn. 2006 Dec;26(13):1271-2. doi: 10.1002/pd.1599.
5
Effectiveness of combining maternal serum alpha-fetoprotein and hCG in a second-trimester screening program for Down syndrome.孕中期唐氏综合征筛查项目中联合母体血清甲胎蛋白和人绒毛膜促性腺激素的有效性。
Obstet Gynecol. 1994 Aug;84(2):298-303.
6
[AFP, uE3, beta-hCG levels applied for prenatal diagnosis of Down's syndrome].[甲胎蛋白、游离雌三醇、β-人绒毛膜促性腺激素水平在唐氏综合征产前诊断中的应用]
Zhonghua Fu Chan Ke Za Zhi. 1997 Nov;32(11):655-8.
7
First-trimester or second-trimester screening, or both, for Down's syndrome.孕早期或孕中期唐氏综合征筛查,或两者皆做。
N Engl J Med. 2005 Nov 10;353(19):2001-11. doi: 10.1056/NEJMoa043693.
8
hCG and the free beta-subunit as screening tests for Down syndrome.人绒毛膜促性腺激素及游离β亚基作为唐氏综合征的筛查指标。
Prenat Diagn. 1998 Mar;18(3):235-45.
9
[Screening by maternal serum markers for Down's syndrome].[通过母体血清标志物筛查唐氏综合征]
Zhongguo Yi Xue Ke Xue Yuan Xue Bao. 2003 Apr;25(2):156-9.
10
Contingent triple-screening for Down syndrome in the second trimester is not a cost-effective prenatal screening strategy in Mainland Chinese population.孕中期唐氏综合征的三联筛查在中国大陆人群中并非具有成本效益的产前筛查策略。
Prenat Diagn. 2010 May;30(5):493. doi: 10.1002/pd.2465.

引用本文的文献

1
First and second trimester serum tests with and without first trimester ultrasound tests for Down's syndrome screening.用于唐氏综合征筛查的孕早期和孕中期血清检测,以及有无孕早期超声检查的情况。
Cochrane Database Syst Rev. 2017 Mar 15;3(3):CD012599. doi: 10.1002/14651858.CD012599.
2
First trimester ultrasound tests alone or in combination with first trimester serum tests for Down's syndrome screening.孕早期单独进行超声检查或与孕早期血清检查联合用于唐氏综合征筛查。
Cochrane Database Syst Rev. 2017 Mar 15;3(3):CD012600. doi: 10.1002/14651858.CD012600.
3
First trimester serum tests for Down's syndrome screening.
孕早期唐氏综合征筛查的血清学检测
Cochrane Database Syst Rev. 2015 Nov 30;2015(11):CD011975. doi: 10.1002/14651858.CD011975.