Advanced maternal age: copy number variations and pregnancy outcomes
Objective: Adverse pregnancy outcomes are closely related to advanced maternal age (AMA; age at pregnancy ≥35 years). Little research has been reported on aneuploid abnormalities and pathogenic copy number variations (CNVs) affecting pregnancy outcomes in women with AMA. The purpose of this study wa...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2023-06-01
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| Series: | Frontiers in Genetics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fgene.2023.1206855/full |
| _version_ | 1797803834116931584 |
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| author | Luoyuan Cao Wenxu Dong Qinjuan Wu Xiaomin Huang Xiaomei Zeng Jing Yang Jiaojiao Lu Xunyan Chen Xian Zheng Xianguo Fu |
| author_facet | Luoyuan Cao Wenxu Dong Qinjuan Wu Xiaomin Huang Xiaomei Zeng Jing Yang Jiaojiao Lu Xunyan Chen Xian Zheng Xianguo Fu |
| author_sort | Luoyuan Cao |
| collection | DOAJ |
| description | Objective: Adverse pregnancy outcomes are closely related to advanced maternal age (AMA; age at pregnancy ≥35 years). Little research has been reported on aneuploid abnormalities and pathogenic copy number variations (CNVs) affecting pregnancy outcomes in women with AMA. The purpose of this study was to assess CNVs associated with AMA in prenatal diagnosis to determine the characteristics of pathogenic CNVs and assist with genetic counseling of women with AMA.Methods: Among 277 fetuses of women with AMA, 218 (78.7%) were isolated AMA fetuses and 59 (21.3%) were non-isolated AMA fetuses and showed ultrasound anomalies from January 2021 to October 2022. Isolated AMA was defined as AMA cases without sonographic abnormalities. Non-isolated AMA was defined as AMA cases with sonographic abnormalities such as sonographic soft markers, widening of the lateral ventricles, or extracardiac structural anomalies. The amniotic fluid cells underwent routine karyotyping followed by single nucleotide polymorphism array (SNP-array) analysis.Results: Of the 277 AMA cases, karyotype analysis identified 20 chromosomal abnormalities. As well as 12 cases of chromosomal abnormalities corresponded to routine karyotyping, the SNP array identified an additional 14 cases of CNVs with normal karyotyping results. There were five pathogenetic CNVs, seven variations of uncertain clinical significance (VOUS), and two benign CNVs. The detection rate of abnormal CNVs in non-isolated AMA cases was increasing (13/59; 22%) than in isolated AMA cases (13/218; 5.96%) (p < 0.001). We also determined that pathogenic CNVs affected the rate of pregnancy termination in women with AMA.Conclusion: Aneuploid abnormalities and pathogenic CNVs affect pregnancy outcomes in women with AMA. SNP array had a higher detection rate of genetic variation than did karyotyping and is an important supplement to karyotype analysis, which enables better informed clinical consultation and clinical decision-making. |
| first_indexed | 2024-03-13T05:27:58Z |
| format | Article |
| id | doaj.art-f5e4d54c59e447a2b4d9fcd59e0dfc5e |
| institution | Directory Open Access Journal |
| issn | 1664-8021 |
| language | English |
| last_indexed | 2024-03-13T05:27:58Z |
| publishDate | 2023-06-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Genetics |
| spelling | doaj.art-f5e4d54c59e447a2b4d9fcd59e0dfc5e2023-06-15T04:57:55ZengFrontiers Media S.A.Frontiers in Genetics1664-80212023-06-011410.3389/fgene.2023.12068551206855Advanced maternal age: copy number variations and pregnancy outcomesLuoyuan Cao0Wenxu Dong1Qinjuan Wu2Xiaomin Huang3Xiaomei Zeng4Jing Yang5Jiaojiao Lu6Xunyan Chen7Xian Zheng8Xianguo Fu9Department of Central Laboratory, Ningde Municipal Hospital Affilliated to Ningde Normal University, Ningde, Fujian, ChinaDepartment of Central Laboratory, Ningde Municipal Hospital Affilliated to Ningde Normal University, Ningde, Fujian, ChinaDepartment of Obstetrics, Ningde Municipal Hospital Affilliated to Ningde Normal University, Ningde, Fujian, ChinaDepartment of Ultrasound, Ningde Municipal Hospital Affilliated to Ningde Normal University, Ningde, Fujian, ChinaDepartment of Obstetrics, Ningde Municipal Hospital Affilliated to Ningde Normal University, Ningde, Fujian, ChinaDepartment of Central Laboratory, Ningde Municipal Hospital Affilliated to Ningde Normal University, Ningde, Fujian, ChinaDepartment of Central Laboratory, Ningde Municipal Hospital Affilliated to Ningde Normal University, Ningde, Fujian, ChinaDepartment of Obstetrics, Ningde Municipal Hospital Affilliated to Ningde Normal University, Ningde, Fujian, ChinaDepartment of Central Laboratory, Ningde Municipal Hospital Affilliated to Ningde Normal University, Ningde, Fujian, ChinaDepartment of Central Laboratory, Ningde Municipal Hospital Affilliated to Ningde Normal University, Ningde, Fujian, ChinaObjective: Adverse pregnancy outcomes are closely related to advanced maternal age (AMA; age at pregnancy ≥35 years). Little research has been reported on aneuploid abnormalities and pathogenic copy number variations (CNVs) affecting pregnancy outcomes in women with AMA. The purpose of this study was to assess CNVs associated with AMA in prenatal diagnosis to determine the characteristics of pathogenic CNVs and assist with genetic counseling of women with AMA.Methods: Among 277 fetuses of women with AMA, 218 (78.7%) were isolated AMA fetuses and 59 (21.3%) were non-isolated AMA fetuses and showed ultrasound anomalies from January 2021 to October 2022. Isolated AMA was defined as AMA cases without sonographic abnormalities. Non-isolated AMA was defined as AMA cases with sonographic abnormalities such as sonographic soft markers, widening of the lateral ventricles, or extracardiac structural anomalies. The amniotic fluid cells underwent routine karyotyping followed by single nucleotide polymorphism array (SNP-array) analysis.Results: Of the 277 AMA cases, karyotype analysis identified 20 chromosomal abnormalities. As well as 12 cases of chromosomal abnormalities corresponded to routine karyotyping, the SNP array identified an additional 14 cases of CNVs with normal karyotyping results. There were five pathogenetic CNVs, seven variations of uncertain clinical significance (VOUS), and two benign CNVs. The detection rate of abnormal CNVs in non-isolated AMA cases was increasing (13/59; 22%) than in isolated AMA cases (13/218; 5.96%) (p < 0.001). We also determined that pathogenic CNVs affected the rate of pregnancy termination in women with AMA.Conclusion: Aneuploid abnormalities and pathogenic CNVs affect pregnancy outcomes in women with AMA. SNP array had a higher detection rate of genetic variation than did karyotyping and is an important supplement to karyotype analysis, which enables better informed clinical consultation and clinical decision-making.https://www.frontiersin.org/articles/10.3389/fgene.2023.1206855/fulladvanced maternal ageprenatal diagnosiscopy number variationskaryotypingpregnancy outcomes |
| spellingShingle | Luoyuan Cao Wenxu Dong Qinjuan Wu Xiaomin Huang Xiaomei Zeng Jing Yang Jiaojiao Lu Xunyan Chen Xian Zheng Xianguo Fu Advanced maternal age: copy number variations and pregnancy outcomes Frontiers in Genetics advanced maternal age prenatal diagnosis copy number variations karyotyping pregnancy outcomes |
| title | Advanced maternal age: copy number variations and pregnancy outcomes |
| title_full | Advanced maternal age: copy number variations and pregnancy outcomes |
| title_fullStr | Advanced maternal age: copy number variations and pregnancy outcomes |
| title_full_unstemmed | Advanced maternal age: copy number variations and pregnancy outcomes |
| title_short | Advanced maternal age: copy number variations and pregnancy outcomes |
| title_sort | advanced maternal age copy number variations and pregnancy outcomes |
| topic | advanced maternal age prenatal diagnosis copy number variations karyotyping pregnancy outcomes |
| url | https://www.frontiersin.org/articles/10.3389/fgene.2023.1206855/full |
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