Biomedical Statistics and Informatics

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Correlation Analysis Between Maternal Age and Pathogenic Copy Number Variations in Prenatal Diagnosis

Received: 11 May 2023    Accepted: 2 June 2023    Published: 25 September 2023
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Abstract

Objective: To investigate the correlation between maternal age and pathogenic copy number variations (pCNVs) in prenatal diagnosis. Method: This is a retrospective study, from 2009.6 to 2022.4, thirty-five thousand and seventeen invasive procedures have been performed due to high risk of down syndrome screening, advanced maternal age, ultrasound structural defects and so on. All the pregnant information, clinical indications and outcome of prenatal diagnosis were recorded in our prenatal database. The correlation between maternal age and chromosomal abnormalities/pathogenic copy number variations was analyzed by binary logistics regression. Results: In 35017 prenatal samples, karyotyping was performed in 34676 cases, which showed chromosomal abnormalities in 2704 cases (7.80%, 2704/34676). CMA was performed in 5041 cases, which showed chromosomal abnormalities in 646 cases (12.81%, 646/5041) including 233 pathogenic copy number variations (4.96%, 233/4700). The detection rate of CMA was significantly higher than that of karyotyping (P=0.000, X2=143.437). In this study, karyotyping and CMA were both performed in 4700 cases, which showed a 4.36% (205/4700) increase in chromosomal abnormalities detected by CMA compared with karyotyping. By regression analysis, the incidence of chromosomal abnormalities increased significantly with the increase of the maternal age (P=0.000; Exp (B)=1.055; CI 95% 1.048-1.062). However, the proportion of pCNVs decreased greatly (P=0.000; Exp (B)=0.947; CI 95% 0.921-0.974). Conclusion: The detection rate of CMA was higher than traditional karyotype analysis in prenatal diagnosis. There was a significant correlation between maternal age and chromosomal abnormalities, but the incidence of pathogenic copy number variations did not increase with the increase of the maternal age.

DOI 10.11648/j.bsi.20230803.12
Published in Biomedical Statistics and Informatics (Volume 8, Issue 3, September 2023)
Page(s) 42-47
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This is an Open Access article, distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution and reproduction in any medium or format, provided the original work is properly cited.

Copyright

Copyright © The Author(s), 2024. Published by Science Publishing Group

Keywords

Prenatal Diagnosis, Maternal Age, Chromosomal Abnormalities, Pathogenic Copy Number Variations

References
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[3] Li Yu, Song Ting-ting, Xu Ying, Dang Ying-hui, Wan Shan-ning, Zhang Jian-fang. Application of chromosomal microarray analysis in prenatal diagnosis of advanced maternal age pregnant women. Journal of Lanzhou University: Medical Edition. 2021, 47 (3): 5. doi: 10.13885/j.issn.1000-2812.2021.03.016.
[4] ZHANG Na, YAN Meizhen, WANG Yuanbai, JIANG Yuying, ZHUANG Jianlong. Karyotype and copy number variation analyses of amniotic fluid cells in pregnant women with advanced maternal age. Journal of Southwest Medical University. 2021, 044 (002): 144-149. doi: 10.3969/j.issn.2096-3351.2021.02.010.
[5] Wilson KL, Czerwinski JL, Hoskovec JM, et al. NSGC practice guideline: prenatal screening and diagnostic testing options for chromosome aneuploidy. J Genet Couns. 2013; 22 (1): 4-15. doi: 10.1007/s10897-012-9545-3.
[6] Ghi T, Sotiriadis A, Calda P, et al. ISUOG Practice Guidelines: invasive procedures for prenatal diagnosis. Ultrasound Obstet Gynecol. 2016; 48 (2): 256-268. doi: 10.1002/uog.15945.
[7] American College of Obstetricians and Gynecologists’ Committee on Practice Bulletins—Obstetrics; Committee on Genetics; Society for Maternal-Fetal Medicine. Screening for Fetal Chromosomal Abnormalities: ACOG Practice Bulletin, Number 226. Obstet Gynecol. 2020; 136 (4): e48-e69. doi: 10.1097/AOG.0000000000004084.
[8] Society for Maternal-Fetal Medicine (SMFM). Electronic address: pubs@smfm.org, Dugoff L, Norton ME, Kuller JA. The use of chromosomal microarray for prenatal diagnosis [published correction appears in Am J Obstet Gynecol. 2017 Feb; 216 (2): 180]. Am J Obstet Gynecol. 2016; 215 (4): B2-B9. doi: 10.1016/j.ajog.2016.07.016.
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[10] Larroya M, Tortajada M, Mensión E, Pauta M, Rodriguez-Revenga L, Borrell A. Have maternal or paternal ages any impact on the prenatal incidence of genomic copy number variants associated with fetal structural anomalies?. PLoS One. 2021; 16 (7): e0253866. Published 2021 Jul 9. doi: 10.1371/journal.pone.0253866.
[11] Yang Shuting, Zhao Yali, Tang Xinxin, Wang Zhiwei, Liu Dengping, Zhang Jinglu, Gu Ying, Wang Leilei. Application of Chromosome microarray analysis in prenatal diagnosis of pregnant women with advanced age. Chin J Med Genet, 2021 February, 38 (2): 7. doi: 10.3760/cma.j.cn511374-20200323-00195.
[12] Blyth U, Craciunas L, Hudson G, Choudhary M. Maternal germline factors associated with aneuploid pregnancy loss: a systematic review. Hum Reprod Update. 2021; 27 (5): 866-884. doi: 10.1093/humupd/dmab010.
[13] Cheng JM, Liu YX. Age-Related Loss of Cohesion: Causes and Effects. Int J Mol Sci. 2017; 18 (7): 1578. Published 2017 Jul 22. doi: 10.3390/ijms18071578.
[14] Wang S, Liu Y, Shang Y, et al. Crossover Interference, Crossover Maturation, and Human Aneuploidy. Bioessays. 2019; 41 (10): e1800221. doi: 10.1002/bies.201800221.
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  • APA Style

    Huang Shun-ting, Yuan Si-min, Zhong Hui-zhu, Yi Cui-xing, Li Ru, et al. (2023). Correlation Analysis Between Maternal Age and Pathogenic Copy Number Variations in Prenatal Diagnosis. Biomedical Statistics and Informatics, 8(3), 42-47. https://doi.org/10.11648/j.bsi.20230803.12

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    ACS Style

    Huang Shun-ting; Yuan Si-min; Zhong Hui-zhu; Yi Cui-xing; Li Ru, et al. Correlation Analysis Between Maternal Age and Pathogenic Copy Number Variations in Prenatal Diagnosis. Biomed. Stat. Inform. 2023, 8(3), 42-47. doi: 10.11648/j.bsi.20230803.12

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    AMA Style

    Huang Shun-ting, Yuan Si-min, Zhong Hui-zhu, Yi Cui-xing, Li Ru, et al. Correlation Analysis Between Maternal Age and Pathogenic Copy Number Variations in Prenatal Diagnosis. Biomed Stat Inform. 2023;8(3):42-47. doi: 10.11648/j.bsi.20230803.12

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  • @article{10.11648/j.bsi.20230803.12,
      author = {Huang Shun-ting and Yuan Si-min and Zhong Hui-zhu and Yi Cui-xing and Li Ru and Zhang Yong-ling and Fu Fang and Zhou Hang and Yang Xin},
      title = {Correlation Analysis Between Maternal Age and Pathogenic Copy Number Variations in Prenatal Diagnosis},
      journal = {Biomedical Statistics and Informatics},
      volume = {8},
      number = {3},
      pages = {42-47},
      doi = {10.11648/j.bsi.20230803.12},
      url = {https://doi.org/10.11648/j.bsi.20230803.12},
      eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.bsi.20230803.12},
      abstract = {Objective: To investigate the correlation between maternal age and pathogenic copy number variations (pCNVs) in prenatal diagnosis. Method: This is a retrospective study, from 2009.6 to 2022.4, thirty-five thousand and seventeen invasive procedures have been performed due to high risk of down syndrome screening, advanced maternal age, ultrasound structural defects and so on. All the pregnant information, clinical indications and outcome of prenatal diagnosis were recorded in our prenatal database. The correlation between maternal age and chromosomal abnormalities/pathogenic copy number variations was analyzed by binary logistics regression. Results: In 35017 prenatal samples, karyotyping was performed in 34676 cases, which showed chromosomal abnormalities in 2704 cases (7.80%, 2704/34676). CMA was performed in 5041 cases, which showed chromosomal abnormalities in 646 cases (12.81%, 646/5041) including 233 pathogenic copy number variations (4.96%, 233/4700). The detection rate of CMA was significantly higher than that of karyotyping (P=0.000, X2=143.437). In this study, karyotyping and CMA were both performed in 4700 cases, which showed a 4.36% (205/4700) increase in chromosomal abnormalities detected by CMA compared with karyotyping. By regression analysis, the incidence of chromosomal abnormalities increased significantly with the increase of the maternal age (P=0.000; Exp (B)=1.055; CI 95% 1.048-1.062). However, the proportion of pCNVs decreased greatly (P=0.000; Exp (B)=0.947; CI 95% 0.921-0.974). Conclusion: The detection rate of CMA was higher than traditional karyotype analysis in prenatal diagnosis. There was a significant correlation between maternal age and chromosomal abnormalities, but the incidence of pathogenic copy number variations did not increase with the increase of the maternal age.},
     year = {2023}
    }
    

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  • TY  - JOUR
    T1  - Correlation Analysis Between Maternal Age and Pathogenic Copy Number Variations in Prenatal Diagnosis
    AU  - Huang Shun-ting
    AU  - Yuan Si-min
    AU  - Zhong Hui-zhu
    AU  - Yi Cui-xing
    AU  - Li Ru
    AU  - Zhang Yong-ling
    AU  - Fu Fang
    AU  - Zhou Hang
    AU  - Yang Xin
    Y1  - 2023/09/25
    PY  - 2023
    N1  - https://doi.org/10.11648/j.bsi.20230803.12
    DO  - 10.11648/j.bsi.20230803.12
    T2  - Biomedical Statistics and Informatics
    JF  - Biomedical Statistics and Informatics
    JO  - Biomedical Statistics and Informatics
    SP  - 42
    EP  - 47
    PB  - Science Publishing Group
    SN  - 2578-8728
    UR  - https://doi.org/10.11648/j.bsi.20230803.12
    AB  - Objective: To investigate the correlation between maternal age and pathogenic copy number variations (pCNVs) in prenatal diagnosis. Method: This is a retrospective study, from 2009.6 to 2022.4, thirty-five thousand and seventeen invasive procedures have been performed due to high risk of down syndrome screening, advanced maternal age, ultrasound structural defects and so on. All the pregnant information, clinical indications and outcome of prenatal diagnosis were recorded in our prenatal database. The correlation between maternal age and chromosomal abnormalities/pathogenic copy number variations was analyzed by binary logistics regression. Results: In 35017 prenatal samples, karyotyping was performed in 34676 cases, which showed chromosomal abnormalities in 2704 cases (7.80%, 2704/34676). CMA was performed in 5041 cases, which showed chromosomal abnormalities in 646 cases (12.81%, 646/5041) including 233 pathogenic copy number variations (4.96%, 233/4700). The detection rate of CMA was significantly higher than that of karyotyping (P=0.000, X2=143.437). In this study, karyotyping and CMA were both performed in 4700 cases, which showed a 4.36% (205/4700) increase in chromosomal abnormalities detected by CMA compared with karyotyping. By regression analysis, the incidence of chromosomal abnormalities increased significantly with the increase of the maternal age (P=0.000; Exp (B)=1.055; CI 95% 1.048-1.062). However, the proportion of pCNVs decreased greatly (P=0.000; Exp (B)=0.947; CI 95% 0.921-0.974). Conclusion: The detection rate of CMA was higher than traditional karyotype analysis in prenatal diagnosis. There was a significant correlation between maternal age and chromosomal abnormalities, but the incidence of pathogenic copy number variations did not increase with the increase of the maternal age.
    VL  - 8
    IS  - 3
    ER  - 

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Author Information
  • Prenatal Diagnostic Center, Guangzhou Women and Children’s Medical Center, Guangzhou Medical University, Guangzhou, China

  • Prenatal Diagnostic Center, Guangzhou Women and Children’s Medical Center, Guangzhou Medical University, Guangzhou, China

  • Prenatal Diagnostic Center, Guangzhou Women and Children’s Medical Center, Guangzhou Medical University, Guangzhou, China

  • Prenatal Diagnostic Center, Guangzhou Women and Children’s Medical Center, Guangzhou Medical University, Guangzhou, China

  • Prenatal Diagnostic Center, Guangzhou Women and Children’s Medical Center, Guangzhou Medical University, Guangzhou, China

  • Prenatal Diagnostic Center, Guangzhou Women and Children’s Medical Center, Guangzhou Medical University, Guangzhou, China

  • Prenatal Diagnostic Center, Guangzhou Women and Children’s Medical Center, Guangzhou Medical University, Guangzhou, China

  • Prenatal Diagnostic Center, Guangzhou Women and Children’s Medical Center, Guangzhou Medical University, Guangzhou, China

  • Prenatal Diagnostic Center, Shenzhen Longgang District Maternal and Child Health Hospital, Shenzhen, China

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