Clinical Selection of Prenatal Diagnostic Techniques Following Positive Noninvasive Prenatal Screening Results in Southwest China
Background: This study aims to evaluate prenatal diagnosis methods following positive noninvasive prenatal screening (NIPS) results.Methods: According to the positive noninvasive prenatal screening results, 926 pregnant women were divided into three groups: main target disease group (high risk for t...
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Frontiers Media S.A.
2022-01-01
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| Series: | Frontiers in Genetics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fgene.2021.811414/full |
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| author | Xiaosha Jing Xiaosha Jing Hongqian Liu Hongqian Liu Qian Zhu Qian Zhu Sha Liu Sha Liu Jianlong Liu Jianlong Liu Ting Bai Ting Bai Cechuan Deng Cechuan Deng Tianyu Xia Tianyu Xia Yunyun Liu Yunyun Liu Jing Cheng Jing Cheng Xiang Wei Xiang Wei Lingling Xing Lingling Xing Yuan Luo Yuan Luo Quanfang Zhou Quanfang Zhou Lin Chen Lin Chen Lingping Li Lingping Li Jiamin Wang Jiamin Wang |
| author_facet | Xiaosha Jing Xiaosha Jing Hongqian Liu Hongqian Liu Qian Zhu Qian Zhu Sha Liu Sha Liu Jianlong Liu Jianlong Liu Ting Bai Ting Bai Cechuan Deng Cechuan Deng Tianyu Xia Tianyu Xia Yunyun Liu Yunyun Liu Jing Cheng Jing Cheng Xiang Wei Xiang Wei Lingling Xing Lingling Xing Yuan Luo Yuan Luo Quanfang Zhou Quanfang Zhou Lin Chen Lin Chen Lingping Li Lingping Li Jiamin Wang Jiamin Wang |
| author_sort | Xiaosha Jing |
| collection | DOAJ |
| description | Background: This study aims to evaluate prenatal diagnosis methods following positive noninvasive prenatal screening (NIPS) results.Methods: According to the positive noninvasive prenatal screening results, 926 pregnant women were divided into three groups: main target disease group (high risk for trisomy 21, trisomy 18, or trisomy 13), sex chromosome aneuploidy (SCA) group, and other chromosomal abnormalities group [abnormal Z-scores for chromosomes other than trisomy (T)21/T18/T13 or SCAs]. The verification methods and results were then retrospectively analysed.Results: In the main target disease group, the positive rate of chromosomal abnormalities confirmed by quantitative fluorescence polymerase chain reaction (QF-PCR) was 75.18% (212/282), which was not significantly different from that by karyotyping (79.36%, 173/218) and copy number variation (CNV) detection methods (71.43%, 65/91). The positive rate of additional findings confirmed by karyotyping and copy number variation detection methods in main target disease group was 0.46% (1/218) and 8.79% (8/91), respectively. The positive rate of chromosomal abnormalities confirmed by karyotyping and CNV detection methods were 27.11% (45/166) and 38.46% (95/247) in the SCA group and 4.17% (1/24) and 20% (36/180) in the other chromosomal abnormalities group, respectively. Fetal sex chromosome mosaicism was detected in 16.13% (20/124) of the confirmed SCA cases. There were no significant differences in the detection rates of chromosomal microarray analysis (CMA) and CNV sequencing (CNVseq) among the three groups (p > 0.05).Conclusion: QF-PCR can quickly and accurately identify aneuploidies following NIPS-positive results for common aneuploidy, and in combination with karyotyping and CNV detection techniques can provide more comprehensive results. With the NIPS-positive results for SCA or other abnormalities, CMA and CNVseq may have the same effect on increasing the detection rate. The addition of fluorescence in situ hybridization assay may help to identify true fetal mosaicism. |
| first_indexed | 2024-12-17T18:38:10Z |
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| language | English |
| last_indexed | 2024-12-17T18:38:10Z |
| publishDate | 2022-01-01 |
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| series | Frontiers in Genetics |
| spelling | doaj.art-a7bfe1bae77745fc93942e82fa6ae1e72022-12-21T21:37:02ZengFrontiers Media S.A.Frontiers in Genetics1664-80212022-01-011210.3389/fgene.2021.811414811414Clinical Selection of Prenatal Diagnostic Techniques Following Positive Noninvasive Prenatal Screening Results in Southwest ChinaXiaosha Jing0Xiaosha Jing1Hongqian Liu2Hongqian Liu3Qian Zhu4Qian Zhu5Sha Liu6Sha Liu7Jianlong Liu8Jianlong Liu9Ting Bai10Ting Bai11Cechuan Deng12Cechuan Deng13Tianyu Xia14Tianyu Xia15Yunyun Liu16Yunyun Liu17Jing Cheng18Jing Cheng19Xiang Wei20Xiang Wei21Lingling Xing22Lingling Xing23Yuan Luo24Yuan Luo25Quanfang Zhou26Quanfang Zhou27Lin Chen28Lin Chen29Lingping Li30Lingping Li31Jiamin Wang32Jiamin Wang33Department of Obstetrics and Gynaecology, West China Second University Hospital, Sichuan University, Chengdu, ChinaKey Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, Sichuan University, Chengdu, ChinaDepartment of Obstetrics and Gynaecology, West China Second University Hospital, Sichuan University, Chengdu, ChinaKey Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, Sichuan University, Chengdu, ChinaDepartment of Obstetrics and Gynaecology, West China Second University Hospital, Sichuan University, Chengdu, ChinaKey Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, Sichuan University, Chengdu, ChinaDepartment of Obstetrics and Gynaecology, West China Second University Hospital, Sichuan University, Chengdu, ChinaKey Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, Sichuan University, Chengdu, ChinaDepartment of Obstetrics and Gynaecology, West China Second University Hospital, Sichuan University, Chengdu, ChinaKey Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, Sichuan University, Chengdu, ChinaDepartment of Obstetrics and Gynaecology, West China Second University Hospital, Sichuan University, Chengdu, ChinaKey Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, Sichuan University, Chengdu, ChinaDepartment of Obstetrics and Gynaecology, West China Second University Hospital, Sichuan University, Chengdu, ChinaKey Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, Sichuan University, Chengdu, ChinaDepartment of Obstetrics and Gynaecology, West China Second University Hospital, Sichuan University, Chengdu, ChinaKey Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, Sichuan University, Chengdu, ChinaDepartment of Obstetrics and Gynaecology, West China Second University Hospital, Sichuan University, Chengdu, ChinaKey Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, Sichuan University, Chengdu, ChinaDepartment of Obstetrics and Gynaecology, West China Second University Hospital, Sichuan University, Chengdu, ChinaKey Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, Sichuan University, Chengdu, ChinaDepartment of Obstetrics and Gynaecology, West China Second University Hospital, Sichuan University, Chengdu, ChinaKey Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, Sichuan University, Chengdu, ChinaDepartment of Obstetrics and Gynaecology, West China Second University Hospital, Sichuan University, Chengdu, ChinaKey Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, Sichuan University, Chengdu, ChinaDepartment of Obstetrics and Gynaecology, West China Second University Hospital, Sichuan University, Chengdu, ChinaKey Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, Sichuan University, Chengdu, ChinaDepartment of Obstetrics and Gynaecology, West China Second University Hospital, Sichuan University, Chengdu, ChinaKey Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, Sichuan University, Chengdu, ChinaDepartment of Obstetrics and Gynaecology, West China Second University Hospital, Sichuan University, Chengdu, ChinaKey Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, Sichuan University, Chengdu, ChinaDepartment of Obstetrics and Gynaecology, West China Second University Hospital, Sichuan University, Chengdu, ChinaKey Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, Sichuan University, Chengdu, ChinaDepartment of Obstetrics and Gynaecology, West China Second University Hospital, Sichuan University, Chengdu, ChinaKey Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, Sichuan University, Chengdu, ChinaBackground: This study aims to evaluate prenatal diagnosis methods following positive noninvasive prenatal screening (NIPS) results.Methods: According to the positive noninvasive prenatal screening results, 926 pregnant women were divided into three groups: main target disease group (high risk for trisomy 21, trisomy 18, or trisomy 13), sex chromosome aneuploidy (SCA) group, and other chromosomal abnormalities group [abnormal Z-scores for chromosomes other than trisomy (T)21/T18/T13 or SCAs]. The verification methods and results were then retrospectively analysed.Results: In the main target disease group, the positive rate of chromosomal abnormalities confirmed by quantitative fluorescence polymerase chain reaction (QF-PCR) was 75.18% (212/282), which was not significantly different from that by karyotyping (79.36%, 173/218) and copy number variation (CNV) detection methods (71.43%, 65/91). The positive rate of additional findings confirmed by karyotyping and copy number variation detection methods in main target disease group was 0.46% (1/218) and 8.79% (8/91), respectively. The positive rate of chromosomal abnormalities confirmed by karyotyping and CNV detection methods were 27.11% (45/166) and 38.46% (95/247) in the SCA group and 4.17% (1/24) and 20% (36/180) in the other chromosomal abnormalities group, respectively. Fetal sex chromosome mosaicism was detected in 16.13% (20/124) of the confirmed SCA cases. There were no significant differences in the detection rates of chromosomal microarray analysis (CMA) and CNV sequencing (CNVseq) among the three groups (p > 0.05).Conclusion: QF-PCR can quickly and accurately identify aneuploidies following NIPS-positive results for common aneuploidy, and in combination with karyotyping and CNV detection techniques can provide more comprehensive results. With the NIPS-positive results for SCA or other abnormalities, CMA and CNVseq may have the same effect on increasing the detection rate. The addition of fluorescence in situ hybridization assay may help to identify true fetal mosaicism.https://www.frontiersin.org/articles/10.3389/fgene.2021.811414/fullaneuploidynoninvasive prenatal screeningsex chromosome mosaicismother chromosomal abnormalitiespositive NIPS resultsprenatal diagnostic techniques |
| spellingShingle | Xiaosha Jing Xiaosha Jing Hongqian Liu Hongqian Liu Qian Zhu Qian Zhu Sha Liu Sha Liu Jianlong Liu Jianlong Liu Ting Bai Ting Bai Cechuan Deng Cechuan Deng Tianyu Xia Tianyu Xia Yunyun Liu Yunyun Liu Jing Cheng Jing Cheng Xiang Wei Xiang Wei Lingling Xing Lingling Xing Yuan Luo Yuan Luo Quanfang Zhou Quanfang Zhou Lin Chen Lin Chen Lingping Li Lingping Li Jiamin Wang Jiamin Wang Clinical Selection of Prenatal Diagnostic Techniques Following Positive Noninvasive Prenatal Screening Results in Southwest China Frontiers in Genetics aneuploidy noninvasive prenatal screening sex chromosome mosaicism other chromosomal abnormalities positive NIPS results prenatal diagnostic techniques |
| title | Clinical Selection of Prenatal Diagnostic Techniques Following Positive Noninvasive Prenatal Screening Results in Southwest China |
| title_full | Clinical Selection of Prenatal Diagnostic Techniques Following Positive Noninvasive Prenatal Screening Results in Southwest China |
| title_fullStr | Clinical Selection of Prenatal Diagnostic Techniques Following Positive Noninvasive Prenatal Screening Results in Southwest China |
| title_full_unstemmed | Clinical Selection of Prenatal Diagnostic Techniques Following Positive Noninvasive Prenatal Screening Results in Southwest China |
| title_short | Clinical Selection of Prenatal Diagnostic Techniques Following Positive Noninvasive Prenatal Screening Results in Southwest China |
| title_sort | clinical selection of prenatal diagnostic techniques following positive noninvasive prenatal screening results in southwest china |
| topic | aneuploidy noninvasive prenatal screening sex chromosome mosaicism other chromosomal abnormalities positive NIPS results prenatal diagnostic techniques |
| url | https://www.frontiersin.org/articles/10.3389/fgene.2021.811414/full |
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