Discordant performances of non-invasive prenatal testing for foetal trisomy 21 screening in subgroups of pregnancies
AbstractBackground Non-invasive prenatal testing (NIPT) has been widely adopted as an approach for foetal aneuploidy screening. This study was to evaluate the performance of NIPT for foetal T21 detection in subgroups of pregnancies and the correlation between Z-score and discordant positive predicti...
| Main Authors: | , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Taylor & Francis Group
2023-12-01
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| Series: | Journal of Obstetrics and Gynaecology |
| Subjects: | |
| Online Access: | https://www.tandfonline.com/doi/10.1080/01443615.2023.2288226 |
| _version_ | 1797402813642309632 |
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| author | Feng Suo Yi Wang Na Wang Yawen Wang Mingming Liao Jingjing Wang Chuanxia Wang Yan Zhang Man Zhang Chu Zhang Maosheng Gu Lingshan Gou |
| author_facet | Feng Suo Yi Wang Na Wang Yawen Wang Mingming Liao Jingjing Wang Chuanxia Wang Yan Zhang Man Zhang Chu Zhang Maosheng Gu Lingshan Gou |
| author_sort | Feng Suo |
| collection | DOAJ |
| description | AbstractBackground Non-invasive prenatal testing (NIPT) has been widely adopted as an approach for foetal aneuploidy screening. This study was to evaluate the performance of NIPT for foetal T21 detection in subgroups of pregnancies and the correlation between Z-score and discordant positive predictive values (PPVs).Methods We retrospectively reviewed the NIPT results among 22361 pregnancies undergoing combined second-trimester screening (cSTS) previously. Sixty-four cases with positive NIPT results for foetal T21 were validated by invasive prenatal diagnosis.Results In pregnancies with cSTS-T21 low-, intermediate-, and high-risk, the PPVs at NIPT were 14.3%, 64.3%, and 86.4%, respectively. Mean Z-scores of positive NIPT cases with cSTS-T21 high- and intermediate-risk were comparable, while were higher than that of cases with pre-test low-risk. Furthermore, PPVs for positive NIPT cases at 3 < Z < 5, 5 ≤ Z < 9, and Z ≥ 9 were 16.7%, 63.2%, and 100.0%, respectively.Conclusions This study suggested that Z-score value of positive cases might be associated with discordant PPVs for T21 screening in subgroups of pregnancies. |
| first_indexed | 2024-03-09T02:30:36Z |
| format | Article |
| id | doaj.art-6d17fb30f1c4455ca6e96f52073927a2 |
| institution | Directory Open Access Journal |
| issn | 0144-3615 1364-6893 |
| language | English |
| last_indexed | 2024-03-09T02:30:36Z |
| publishDate | 2023-12-01 |
| publisher | Taylor & Francis Group |
| record_format | Article |
| series | Journal of Obstetrics and Gynaecology |
| spelling | doaj.art-6d17fb30f1c4455ca6e96f52073927a22023-12-06T15:28:10ZengTaylor & Francis GroupJournal of Obstetrics and Gynaecology0144-36151364-68932023-12-0143210.1080/01443615.2023.2288226Discordant performances of non-invasive prenatal testing for foetal trisomy 21 screening in subgroups of pregnanciesFeng Suo0Yi Wang1Na Wang2Yawen Wang3Mingming Liao4Jingjing Wang5Chuanxia Wang6Yan Zhang7Man Zhang8Chu Zhang9Maosheng Gu10Lingshan Gou11Center for Genetic Medicine, Xuzhou Maternity and Child Health Care Hospital Affiliated to Xuzhou Medical University, Xuzhou, ChinaCenter for Genetic Medicine, Xuzhou Maternity and Child Health Care Hospital Affiliated to Xuzhou Medical University, Xuzhou, ChinaSchool of Basic Medical Sciences, Xinxiang Medical University, Xinxiang, ChinaDepartment of Clinical Medicine, School of Medicine, Yangzhou University, Yangzhou, ChinaDepartment of Obstetrics, Xuzhou Maternity and Child Health Care Hospital Affiliated to Xuzhou Medical University, Xuzhou, ChinaCenter for Genetic Medicine, Xuzhou Maternity and Child Health Care Hospital Affiliated to Xuzhou Medical University, Xuzhou, ChinaCenter for Genetic Medicine, Xuzhou Maternity and Child Health Care Hospital Affiliated to Xuzhou Medical University, Xuzhou, ChinaCenter for Genetic Medicine, Xuzhou Maternity and Child Health Care Hospital Affiliated to Xuzhou Medical University, Xuzhou, ChinaDepartment of Technology, Zhejiang Biosan Biochemical Technologies Co., Ltd, Hangzhou, ChinaDepartment of Neurobiology, Xuzhou Key Laboratory of Neurobiology, Xuzhou Medical University, Xuzhou, ChinaCenter for Genetic Medicine, Xuzhou Maternity and Child Health Care Hospital Affiliated to Xuzhou Medical University, Xuzhou, ChinaCenter for Genetic Medicine, Xuzhou Maternity and Child Health Care Hospital Affiliated to Xuzhou Medical University, Xuzhou, ChinaAbstractBackground Non-invasive prenatal testing (NIPT) has been widely adopted as an approach for foetal aneuploidy screening. This study was to evaluate the performance of NIPT for foetal T21 detection in subgroups of pregnancies and the correlation between Z-score and discordant positive predictive values (PPVs).Methods We retrospectively reviewed the NIPT results among 22361 pregnancies undergoing combined second-trimester screening (cSTS) previously. Sixty-four cases with positive NIPT results for foetal T21 were validated by invasive prenatal diagnosis.Results In pregnancies with cSTS-T21 low-, intermediate-, and high-risk, the PPVs at NIPT were 14.3%, 64.3%, and 86.4%, respectively. Mean Z-scores of positive NIPT cases with cSTS-T21 high- and intermediate-risk were comparable, while were higher than that of cases with pre-test low-risk. Furthermore, PPVs for positive NIPT cases at 3 < Z < 5, 5 ≤ Z < 9, and Z ≥ 9 were 16.7%, 63.2%, and 100.0%, respectively.Conclusions This study suggested that Z-score value of positive cases might be associated with discordant PPVs for T21 screening in subgroups of pregnancies.https://www.tandfonline.com/doi/10.1080/01443615.2023.2288226Non-invasive prenatal testingtrisomy 21Z-score |
| spellingShingle | Feng Suo Yi Wang Na Wang Yawen Wang Mingming Liao Jingjing Wang Chuanxia Wang Yan Zhang Man Zhang Chu Zhang Maosheng Gu Lingshan Gou Discordant performances of non-invasive prenatal testing for foetal trisomy 21 screening in subgroups of pregnancies Journal of Obstetrics and Gynaecology Non-invasive prenatal testing trisomy 21 Z-score |
| title | Discordant performances of non-invasive prenatal testing for foetal trisomy 21 screening in subgroups of pregnancies |
| title_full | Discordant performances of non-invasive prenatal testing for foetal trisomy 21 screening in subgroups of pregnancies |
| title_fullStr | Discordant performances of non-invasive prenatal testing for foetal trisomy 21 screening in subgroups of pregnancies |
| title_full_unstemmed | Discordant performances of non-invasive prenatal testing for foetal trisomy 21 screening in subgroups of pregnancies |
| title_short | Discordant performances of non-invasive prenatal testing for foetal trisomy 21 screening in subgroups of pregnancies |
| title_sort | discordant performances of non invasive prenatal testing for foetal trisomy 21 screening in subgroups of pregnancies |
| topic | Non-invasive prenatal testing trisomy 21 Z-score |
| url | https://www.tandfonline.com/doi/10.1080/01443615.2023.2288226 |
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