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

Huang Shun-ting; Yuan Si-min; Zhong Hui-zhu; Yi Cui-xing; Li Ru; Zhang Yong-ling; Fu Fang; Zhou Hang; Yang Xin

doi:doi:10.11648/j.bsi.20230803.12

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

Huang Shun-ting, Yuan Si-min, Zhong Hui-zhu, Yi Cui-xing, Li Ru, Zhang Yong-ling, Fu Fang, Zhou Hang, Yang Xin

Published in Biomedical Statistics and Informatics (Volume 8, Issue 3)

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.

Published in	Biomedical Statistics and Informatics (Volume 8, Issue 3)
DOI	10.11648/j.bsi.20230803.12
Page(s)	42-47
Creative Commons	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), 2023. Published by Science Publishing Group

Keywords

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

References

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[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.
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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

Huang Shun-ting

Prenatal Diagnostic Center, Guangzhou Women and Children’s Medical Center, Guangzhou Medical University, Guangzhou, China
Yuan Si-min

Prenatal Diagnostic Center, Guangzhou Women and Children’s Medical Center, Guangzhou Medical University, Guangzhou, China
Zhong Hui-zhu

Prenatal Diagnostic Center, Guangzhou Women and Children’s Medical Center, Guangzhou Medical University, Guangzhou, China
Yi Cui-xing

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

Prenatal Diagnostic Center, Guangzhou Women and Children’s Medical Center, Guangzhou Medical University, Guangzhou, China
Zhang Yong-ling

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

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

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

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

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Plain Text BibTeX RIS

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

Copy | Download

@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}
}

Copy | Download

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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