Volume 19 Issue 1
Jan.  2021
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Article Navigation >  Chinese Journal of General Practice  > 2021  >  19(1): 65-68
HU Yue, LIU Wen, PENG Ya-qin, XU Jing-jing, SONG Ya-xian, HE Guo-ping, WU Li-min, WANG Jing. Retrospective study of non-invasive prenatal screening using high-throughput sequencing technology in a single centre[J]. Chinese Journal of General Practice, 2021, 19(1): 65-68. doi: 10.16766/j.cnki.issn.1674-4152.001732
Citation: HU Yue, LIU Wen, PENG Ya-qin, XU Jing-jing, SONG Ya-xian, HE Guo-ping, WU Li-min, WANG Jing. Retrospective study of non-invasive prenatal screening using high-throughput sequencing technology in a single centre[J]. Chinese Journal of General Practice, 2021, 19(1): 65-68. doi: 10.16766/j.cnki.issn.1674-4152.001732
shu

Retrospective study of non-invasive prenatal screening using high-throughput sequencing technology in a single centre

doi: 10.16766/j.cnki.issn.1674-4152.001732

  • Prenatal Diagnosis Center, The First Affiliated Hospital of University of Science and Technology of China/Anhui Provincial Hospital, Hefei, Anhui 230001, China

Funds:

 202004J07020024

  • Received Date: 2020-06-11
    Available Online: 2022-02-19
    Abstract
  •   Objective  To explore the clinical application value and effectiveness of non-invasive prenatal testing (NIPT) for the identification of foetal chromosomal aneuploidies.  Methods  A total of 8 246 singleton pregnant women who were voluntarily undergoing NIPT testing at the First Affiliated Hospital of the University of Science and Technology of China from 2017 to 2018 were selected. Blood samples were collected from the subjects, and free foetal DNA was extracted. High-throughput sequencing was used to analyse the cell-free foetal DNA from the plasma of pregnant women. Those at high risk for chromosomal abnormalities underwent invasive prenatal diagnosis. The clinical data, test results and pregnancy outcomes were recorded during the period, and special cases were further analysed. All cases were analysed collectively to explore the actual clinical testing efficacy of NIPT.  Results  This study detected 68 cases at high risk using NIPT, including 25 cases of Trisomy 21, 8 cases of Trisomy 18, 5 cases of Trisomy 13, 18 cases of sexual chromosome aneuploid, 5 cases of other chromosomal abnormalities and 7 cases of microdeletion/microduplication. After genetic counselling, 58 patients underwent invasive prenatal diagnosis, and 38 positive cases were confirmed by chromosomal karyotyping analysis. The positive predictive values of the aforementioned detected cases were 87.50%, 85.70%, 25.00%, 50.00%, 25.00% and 40.00%, respectively.  Conclusion  NIPT is an effective screening method. Apart from being effective for the detection of trisomy 21 and 18, NIPT is effective in detecting sex chromosome aneuploidy, microdeletion/microduplication and chromosomal mosaicism.

     

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