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<p>Non-invasive prenatal testing (NIPT) as a first-tier screening approach at population scale warrants close evaluation of its accessibility, affordability and extended application value. Here we present insights from a fully publicly funded NIPT programme for the pregnant population in Hebei province, China (July 2019–June 2022), with the latest NIPT coverage of 93.3%. Among 1,185,416 pregnant women, the incidences of fetal chromosome aneuploidies were 0.105% (trisomy 21), 0.026% (trisomy 18), 0.005% (trisomy 13), 0.056% (47,XXY), 0.043% (45,X), 0.039% (47,XYY) and 0.034% (47,XXX). Parental advanced age (≥35 years old) was related to a 4.31-fold risk for fetal trisomy 21 compared to parental non-advanced age. An elevated risk for small vulnerable newborns was observed in NIPT false-positive (relative risk: 1.49 (1.31, 1.68)) and NIPT high-risk without invasive prenatal diagnosis (relative risk: 1.85 (1.57, 2.18)) cases. NIPT reduced prenatal diagnosis by 97.4% compared to maternal serum screening, with better cost-effectiveness. Our findings indicate that first-tier NIPT for all pregnant women could be a feasible and cost-effective alternative to traditional maternal serum screening. NIPT positive results may be an early indicator of more adverse pregnancy outcomes beyond fetal aneuploidies.</p>

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Large-scale implementation of non-invasive prenatal testing for fetal aneuploidies

  • 期刊论文

  • 发表日期：

    2026年4月6日

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  • Jing Liu,
  • Meng Wu,
  • Sijie He,
  • Linfeng Yang,
  • Jianhong Zhao,
  • Yingyao Chen,
  • Longmei Tang,
  • Can Zhao,
  • Yali Li,
  • Guimin Hao,
  • Yingjie Zhou,
  • Yunfang Wang,
  • Qingyun Huo,
  • Hongyan Jiao,
  • Yuhua Zhang,
  • Runxuan Du,
  • Defeng Tao,
  • Yuzhen Wang,
  • Lixia Chen,
  • Chang Guo,
  • Haiyan Liu,
  • Huanxia Xing,
  • Bo Yang,
  • Shuyang Gao,
  • Jianguo Zhang,
  • Lijian Zhao,
  • Jian Gao,
  • Baosheng Zhu,
  • Jun Zhu

摘要

Non-invasive prenatal testing (NIPT) as a first-tier screening approach at population scale warrants close evaluation of its accessibility, affordability and extended application value. Here we present insights from a fully publicly funded NIPT programme for the pregnant population in Hebei province, China (July 2019–June 2022), with the latest NIPT coverage of 93.3%. Among 1,185,416 pregnant women, the incidences of fetal chromosome aneuploidies were 0.105% (trisomy 21), 0.026% (trisomy 18), 0.005% (trisomy 13), 0.056% (47,XXY), 0.043% (45,X), 0.039% (47,XYY) and 0.034% (47,XXX). Parental advanced age (≥35 years old) was related to a 4.31-fold risk for fetal trisomy 21 compared to parental non-advanced age. An elevated risk for small vulnerable newborns was observed in NIPT false-positive (relative risk: 1.49 (1.31, 1.68)) and NIPT high-risk without invasive prenatal diagnosis (relative risk: 1.85 (1.57, 2.18)) cases. NIPT reduced prenatal diagnosis by 97.4% compared to maternal serum screening, with better cost-effectiveness. Our findings indicate that first-tier NIPT for all pregnant women could be a feasible and cost-effective alternative to traditional maternal serum screening. NIPT positive results may be an early indicator of more adverse pregnancy outcomes beyond fetal aneuploidies.