天津医药

天津医药 ›› 2017, Vol. 45 ›› Issue (2): 180-183.doi: 10.11958/20161125

• 临床研究 • 上一篇    下一篇

无创胎儿 DNA 检测在 2 949 例传统唐氏筛查临界风险孕妇中的应用

涂新枝 1， 段纯 2， 李玉哲 1， 杨晓敏 1， 谢建生 3△   

  1. 1 南方医科大学附属深圳市妇幼保健院产科 （邮编 518028）， 2 检验科， 3 中心实验室
  • 收稿日期:2016-10-10 修回日期:2016-12-27 出版日期:2017-02-15 发布日期:2017-02-14
  • 通讯作者: △通讯作者 E-mail：jianshengxie2000@aliyun.com E-mail:tutu97130@126.com
  • 作者简介:涂新枝 （1980）， 女， 硕士， 副主任医师， 主要从事母胎医学临床工作
  • 基金资助:
    1 广东省医学科研基金 （B2015059）； 2 深圳市科技研发资金知识创新计划基础研究项目 （JCYJ20150402090412996）

Non-invasive prenatal test in 2 949 intermediate risk women after traditional Down syndrome screening

TU Xin-zhi1, DUAN Chun2, LI Yu-zhe1, YANG Xiao-min1, XIE Jian-sheng3△   

  1. 1 Department of Obstetrics, 2 Department of Clinical Laboratory, 3 Department of Central Laboratory, Shenzhen Maternity & Child Healthcare Hospital Affiliated to South Medical University, Shenzhen 518028, China
  • Received:2016-10-10 Revised:2016-12-27 Published:2017-02-15 Online:2017-02-14
  • Contact: △Corresponding Author E-mail: jianshengxie2000@aliyun.com E-mail:tutu97130@126.com

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摘要： 目的 探讨无创胎儿 DNA 检测（NIPT）在传统唐氏筛查临界风险孕妇中的应用价值。方法 选择 2015 年 3 月 1 日—2016 年 3 月 31 日因 “传统唐氏筛查为临界风险” 在深圳市妇幼保健院就诊， 经知情同意自愿接受 NIPT 作为后续检查的 2 949 例孕妇为研究对象。回顾性分析孕期传统唐氏筛查、 超声检查、 NIPT 结果和侵入性羊膜腔穿刺胎儿染色体核型分析结果， 追踪随访其妊娠结局。结果 2 949 例传统唐氏筛查为临界风险孕妇均 100% 获得 NIPT 检测结果， 发现 NIPT 高风险 25 例； 25 例中 24 例接受侵入性羊膜腔穿刺行胎儿染色体核型分析， 确诊胎儿染色体异常 13 例， 其中 21 三体 5 例、 13 三体 2 例、 性染色体异常 4 例、 其他染色体异常 2 例； 另有 1 例 NIPT 性染色体异常高风险者拒绝产前诊断， 出生后随访新生儿未见异常。经随访， NIPT 阴性孕妇中未发现染色体异常新生儿， 临界风险孕妇中胎儿染色体异常发生率 0.44%（13/2 949）。结论 应用 NIPT 作为唐氏筛查临界风险孕妇的二线筛查将大大减少侵入性产前诊断的例数， 明显提高胎儿染色体异常的检出率。

关键词: 唐氏综合征, 产前诊断, 胎儿监测, 胎儿疾病, 染色体畸变, 临界风险, 无创胎儿 DNA 检测

Abstract: Objective To explore the value of non-invasive prenatal test (NIPT) in pregnant women with intermediate risk after traditional Down syndrome screening. Methods From March 1 2015 to March 31 2016, a total of 2 949 pregnant women with intermediate risk after traditional Down syndrome screening who received NIPT as the second-line screening method at Shenzhen Maternity and Child Healthcare Hospital after informed consent were recruited for this study. Retrospective data analysis including the results of traditional Down syndrome screening, ultrasound, NIPT and invasive amniocentesis to fetal karyotype analysis were conducted, and pregnant outcomes were followed up. Results NIPT results were all obtained in 2 949 pregnant women with intermediate risk after traditional Down syndrome screening. Of 25 NIPTpositive cases, 24 cases received invasive amniocentesis to fetal karyotype analysis. Thirteen cases were confirmed with fetal chromosomal abnormalities including 5 cases of trisomy 21, 2 cases of trisomy 13, 4 cases of sex chromosomal abnormalities and 2 cases of other chromosomal abnormalities. In addition, 1 NIPT-positive case refused prenatal diagnosis was confirmed normal result after birth. The postnatal follow- up in NIPT- negative women did not find any newborn with chromosomal abnormality. The incidence of fetal chromosomal abnormalities in women with intermediate risk was 0.44% (13/2 949). Conclusion NIPT can be used as second-line screening method in pregnant women with intermediate risk after Down syndrome screening, which could lead to the prenatal detection of a higher proportion of fetal chromosomal abnormalities and a lower invasive-testing rate.

Key words: Down syndrome, prenatal diagnosis, fetal monitoring, fetal diseases, chromosome aberrations, intermediate risk, non-invasive prenatal test