Performance of non-invasive prenatal testing for foetal chromosomal abnormalities in 1048 twin pregnancies
Abstract Objective To investigate the clinical value of non-invasive prenatal testing (NIPT) to screen for chromosomal abnormalities in twin pregnancies and to provide further data on NIPT manifestations in twin pregnancies. Materials and methods In a 4-year period, 1048 women with twin pregnancies...
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| Format: | Article |
| Language: | English |
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BMC
2021-06-01
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| Series: | Molecular Cytogenetics |
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| Online Access: | https://doi.org/10.1186/s13039-021-00551-4 |
| _version_ | 1818577284908449792 |
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| author | Yuan Cheng Xinran Lu Junxiang Tang Jingran Li Yuxiu Sun Chaohong Wang Jiansheng Zhu |
| author_facet | Yuan Cheng Xinran Lu Junxiang Tang Jingran Li Yuxiu Sun Chaohong Wang Jiansheng Zhu |
| author_sort | Yuan Cheng |
| collection | DOAJ |
| description | Abstract Objective To investigate the clinical value of non-invasive prenatal testing (NIPT) to screen for chromosomal abnormalities in twin pregnancies and to provide further data on NIPT manifestations in twin pregnancies. Materials and methods In a 4-year period, 1048 women with twin pregnancies were voluntarily prospectively tested by NIPT to screen for chromosomal abnormalities by sequencing cell-free foetal DNA (cffDNA) in maternal plasma. Positive NIPT results were confirmed by karyotyping, while negative results were followed up 42 days after delivery. Results Thirteen women had positive NIPT results as follows: 2 cases of trisomy 21 (T21), 1 of trisomy 18 (T18), 7 of sex chromosome aneuploidy (SCA), 1 of microdeletion, and 2 of microduplication. Of these 13 cases, 2 were true-positive cases confirmed by foetal karyotype analysis, namely, 1 case of T21 and 1 of microdeletion. Furthermore, the remaining 11 high-risk pregnant women were confirmed as false positive by foetal karyotyping. Thus, the combined positive predictive value (PPV) of NIPT screening for chromosomal abnormalities in twin pregnancies was 15.4% (2/13). There were no false-negative case via our follow-up results. Conclusion Safe and rapid NIPT has a certain clinical application value; however, the PPV is limited, and the screening efficiency is not stable. Careful use should be made in the screening of chromosomal abnormalities in twin pregnancies. |
| first_indexed | 2024-12-16T06:27:28Z |
| format | Article |
| id | doaj.art-87fd269289974f2bad37e4154831845a |
| institution | Directory Open Access Journal |
| issn | 1755-8166 |
| language | English |
| last_indexed | 2024-12-16T06:27:28Z |
| publishDate | 2021-06-01 |
| publisher | BMC |
| record_format | Article |
| series | Molecular Cytogenetics |
| spelling | doaj.art-87fd269289974f2bad37e4154831845a2022-12-21T22:40:59ZengBMCMolecular Cytogenetics1755-81662021-06-011411710.1186/s13039-021-00551-4Performance of non-invasive prenatal testing for foetal chromosomal abnormalities in 1048 twin pregnanciesYuan Cheng0Xinran Lu1Junxiang Tang2Jingran Li3Yuxiu Sun4Chaohong Wang5Jiansheng Zhu6Affiliated Maternity and Child Health Hospital of Anhui Medical UniversityMaternity and Child Health Hospital of Anhui ProvinceMaternity and Child Health Hospital of Anhui ProvinceMaternity and Child Health Hospital of Anhui ProvinceMaternity and Child Health Hospital of Anhui ProvinceMaternity and Child Health Hospital of Anhui ProvinceAffiliated Maternity and Child Health Hospital of Anhui Medical UniversityAbstract Objective To investigate the clinical value of non-invasive prenatal testing (NIPT) to screen for chromosomal abnormalities in twin pregnancies and to provide further data on NIPT manifestations in twin pregnancies. Materials and methods In a 4-year period, 1048 women with twin pregnancies were voluntarily prospectively tested by NIPT to screen for chromosomal abnormalities by sequencing cell-free foetal DNA (cffDNA) in maternal plasma. Positive NIPT results were confirmed by karyotyping, while negative results were followed up 42 days after delivery. Results Thirteen women had positive NIPT results as follows: 2 cases of trisomy 21 (T21), 1 of trisomy 18 (T18), 7 of sex chromosome aneuploidy (SCA), 1 of microdeletion, and 2 of microduplication. Of these 13 cases, 2 were true-positive cases confirmed by foetal karyotype analysis, namely, 1 case of T21 and 1 of microdeletion. Furthermore, the remaining 11 high-risk pregnant women were confirmed as false positive by foetal karyotyping. Thus, the combined positive predictive value (PPV) of NIPT screening for chromosomal abnormalities in twin pregnancies was 15.4% (2/13). There were no false-negative case via our follow-up results. Conclusion Safe and rapid NIPT has a certain clinical application value; however, the PPV is limited, and the screening efficiency is not stable. Careful use should be made in the screening of chromosomal abnormalities in twin pregnancies.https://doi.org/10.1186/s13039-021-00551-4Non-invasive prenatal testingChromosomal aneuploidyMicrodeletionMicroduplicationTwin pregnancy |
| spellingShingle | Yuan Cheng Xinran Lu Junxiang Tang Jingran Li Yuxiu Sun Chaohong Wang Jiansheng Zhu Performance of non-invasive prenatal testing for foetal chromosomal abnormalities in 1048 twin pregnancies Molecular Cytogenetics Non-invasive prenatal testing Chromosomal aneuploidy Microdeletion Microduplication Twin pregnancy |
| title | Performance of non-invasive prenatal testing for foetal chromosomal abnormalities in 1048 twin pregnancies |
| title_full | Performance of non-invasive prenatal testing for foetal chromosomal abnormalities in 1048 twin pregnancies |
| title_fullStr | Performance of non-invasive prenatal testing for foetal chromosomal abnormalities in 1048 twin pregnancies |
| title_full_unstemmed | Performance of non-invasive prenatal testing for foetal chromosomal abnormalities in 1048 twin pregnancies |
| title_short | Performance of non-invasive prenatal testing for foetal chromosomal abnormalities in 1048 twin pregnancies |
| title_sort | performance of non invasive prenatal testing for foetal chromosomal abnormalities in 1048 twin pregnancies |
| topic | Non-invasive prenatal testing Chromosomal aneuploidy Microdeletion Microduplication Twin pregnancy |
| url | https://doi.org/10.1186/s13039-021-00551-4 |
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