影像科学与光化学 ›› 2022, Vol. 40 ›› Issue (3): 499-503.DOI: 10.7517/issn.1674-0475.211106

• 综述与论文 • 上一篇    下一篇

孕中期产前超声联合NIPT在胎儿染色体异常筛查中的应用

侯代荣, 苏庆海, 李丽军   

  1. 南宁市第八人民医院, 广西 南宁 530003
  • 收稿日期:2021-11-04 出版日期:2022-05-15 发布日期:2022-05-27
  • 通讯作者: 广西重点研发计划(桂科AB17195075)

Application of Prenatal Ultrasound Combined with NIPT in the Screening of Fetal Chromosomal Abnormalities in the Second Trimester of Pregnancy

HOU Dairong, SU Qinghai, LI Lijun   

  1. The Eighth People's Hospital of Nanning, Nanning 530003, Guangxi, P. R. China
  • Received:2021-11-04 Online:2022-05-15 Published:2022-05-27

摘要: 本研究探讨孕中期产前超声联合无创产前检测(NIPT)对于染色体异常胎儿筛查的临床价值。选取实施产前超声筛查的6000例孕妇影像学资料及NIPT结果进行回顾性分析。6000例接受超声筛查的孕中期孕妇中,共计检出软指标异常112例,超声筛查出结构指标异常93例;NIPT筛查出高风险孕妇47例,其中21三体综合征33例、18三体综合征14例;超声软指标、超声结构指标、NIPT联合诊断胎儿染色体异常的灵敏度、特异度、阳性预测值及阴性预测值分别为86.44%、99.95%、94.44%、99.87%。孕中期妇女,产前采用超声或NIPT筛查胎儿染色体异常,其灵敏度均不高,但均具有较高的特异度,两种方法结合使用可有效地提高筛检的灵敏度,对于早发现具有重要价值,从而提高生育质量。

关键词: 孕中期, 产前超声检查, 无创产前检测, 染色体异常, 筛查

Abstract: This study investigated the clinical value of prenatal ultrasound combined with non-invasive prenatal testing (NIPT) in the screening of fetuses with chromosomal abnormalities in the second trimester. The imaging data and NIPT results of 6000 pregnant women performed prenatal ultrasound screening were retrospectively analyzed. Among the 6000 cases, 112 cases of abnormal soft index were totally detected, and 93 cases of abnormal structural index were detected by ultrasound. 47 cases of high-risk pregnant women were detected by NIPT, among them 33 cases of trisomy 21 syndrome and 14 cases of trisomy 18. Through the combined diagnosis of ultrasound soft index, ultrasound structural index, NIPT for fetal chromosomal abnormalities, the sensitivity, specificity, positive predictive value and negative predictive value were 86.44%, 99.95%, 94.44% and 99.87%, respectively. For women in the second trimester, prenatal ultrasound or NIPT screening for fetal chromosomal abnormalities has low sensitivity but both high specificity. So the combination of the two methods could effectively improve the sensitivity of screening, which may be useful for early detection important value, thereby improving the reproductive quality.

Key words: second trimester, prenatal ultrasound, non-invasive prenatal testing, chromosomal abnormalities, screening