Chromosome microarray analysis combined with karyotype analysis is a powerful tool for the detection in pregnant women with high-risk indicators
Abstract Background Karyotype analysis and fluorescence in situ hybridization (FISH) are commonly used for prenatal diagnosis, however they have many disadvantages. Chromosome microarray analysis (CMA) has the potential to overcome these disadvantages. This study aimed to evaluate the clinical value...
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| Format: | Article |
| Language: | English |
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BMC
2023-11-01
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| Series: | BMC Pregnancy and Childbirth |
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| Online Access: | https://doi.org/10.1186/s12884-023-06052-z |
| _version_ | 1797629874660179968 |
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| author | Guanhua Qian Liuyun Cai Hong Yao Xiaojing Dong |
| author_facet | Guanhua Qian Liuyun Cai Hong Yao Xiaojing Dong |
| author_sort | Guanhua Qian |
| collection | DOAJ |
| description | Abstract Background Karyotype analysis and fluorescence in situ hybridization (FISH) are commonly used for prenatal diagnosis, however they have many disadvantages. Chromosome microarray analysis (CMA) has the potential to overcome these disadvantages. This study aimed to evaluate the clinical value of CMA in the diagnosis of fetal chromosomal anomalies in southwest of China. Methods A total of 3336 samples of amniotic fluid or umbilical cord blood from pregnant women with high-risk indicators at our center in southwest of China from June 2018 to January 2023 were included in the retrospective analysis. 3222 cases tested by CMA and karyotyping, 114 cases only tested by CMA. Results 3336 samples divided into 2911 cases with single and 425 cases with multiple high-risk indicators. The aneuploidy and pathogenic/likely pathogenic copy number variations (CNVs) of 2911 cases with single high-risk indicator were 4.43% (129/2911) and 2.44% (71/2911) respectively; the aneuploidy and pathogenic/likely pathogenic CNVs of 425 cases with multiple high-risk indicators were 6.82% (29/425) and 2.12% (9/425) respectively. The rate of aneuploidy increased significantly with pregnancy age or NT value. The detection rate of aneuploidy on cases with AMA combined NT ≥ 2.5 mm was significantly higher than that in cases only with AMA (p < 0.001); the detection rate of aneuploidy and pathogenic/likely pathogenic CNVs in cases with AMA combined NIPT high-risk were higher than that in cases only with AMA (p < 0.001, p < 0.05). Conclusions The combined application of CMA and karyotyping were recommended in prenatal diagnosis for providing a scientific and accurate genetic diagnosis and improving the quality of prenatal genetic counseling. |
| first_indexed | 2024-03-11T10:59:56Z |
| format | Article |
| id | doaj.art-2d374c6ac22b4c6bb6c241b1320fe07e |
| institution | Directory Open Access Journal |
| issn | 1471-2393 |
| language | English |
| last_indexed | 2024-03-11T10:59:56Z |
| publishDate | 2023-11-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Pregnancy and Childbirth |
| spelling | doaj.art-2d374c6ac22b4c6bb6c241b1320fe07e2023-11-12T12:32:59ZengBMCBMC Pregnancy and Childbirth1471-23932023-11-012311710.1186/s12884-023-06052-zChromosome microarray analysis combined with karyotype analysis is a powerful tool for the detection in pregnant women with high-risk indicatorsGuanhua Qian0Liuyun Cai1Hong Yao2Xiaojing Dong3Obstetrics and Gynecology Department, The Second Affiliated Hospital of Chongqing Medical UniversityObstetrics and Gynecology Department, The Second Affiliated Hospital of Chongqing Medical UniversityObstetrics and Gynecology Department, The Second Affiliated Hospital of Chongqing Medical UniversityObstetrics and Gynecology Department, The Second Affiliated Hospital of Chongqing Medical UniversityAbstract Background Karyotype analysis and fluorescence in situ hybridization (FISH) are commonly used for prenatal diagnosis, however they have many disadvantages. Chromosome microarray analysis (CMA) has the potential to overcome these disadvantages. This study aimed to evaluate the clinical value of CMA in the diagnosis of fetal chromosomal anomalies in southwest of China. Methods A total of 3336 samples of amniotic fluid or umbilical cord blood from pregnant women with high-risk indicators at our center in southwest of China from June 2018 to January 2023 were included in the retrospective analysis. 3222 cases tested by CMA and karyotyping, 114 cases only tested by CMA. Results 3336 samples divided into 2911 cases with single and 425 cases with multiple high-risk indicators. The aneuploidy and pathogenic/likely pathogenic copy number variations (CNVs) of 2911 cases with single high-risk indicator were 4.43% (129/2911) and 2.44% (71/2911) respectively; the aneuploidy and pathogenic/likely pathogenic CNVs of 425 cases with multiple high-risk indicators were 6.82% (29/425) and 2.12% (9/425) respectively. The rate of aneuploidy increased significantly with pregnancy age or NT value. The detection rate of aneuploidy on cases with AMA combined NT ≥ 2.5 mm was significantly higher than that in cases only with AMA (p < 0.001); the detection rate of aneuploidy and pathogenic/likely pathogenic CNVs in cases with AMA combined NIPT high-risk were higher than that in cases only with AMA (p < 0.001, p < 0.05). Conclusions The combined application of CMA and karyotyping were recommended in prenatal diagnosis for providing a scientific and accurate genetic diagnosis and improving the quality of prenatal genetic counseling.https://doi.org/10.1186/s12884-023-06052-zPrenatal diagnosisChromosomal microarray analysis (CMA)Copy number variation (CNV)Karyotype analysis |
| spellingShingle | Guanhua Qian Liuyun Cai Hong Yao Xiaojing Dong Chromosome microarray analysis combined with karyotype analysis is a powerful tool for the detection in pregnant women with high-risk indicators BMC Pregnancy and Childbirth Prenatal diagnosis Chromosomal microarray analysis (CMA) Copy number variation (CNV) Karyotype analysis |
| title | Chromosome microarray analysis combined with karyotype analysis is a powerful tool for the detection in pregnant women with high-risk indicators |
| title_full | Chromosome microarray analysis combined with karyotype analysis is a powerful tool for the detection in pregnant women with high-risk indicators |
| title_fullStr | Chromosome microarray analysis combined with karyotype analysis is a powerful tool for the detection in pregnant women with high-risk indicators |
| title_full_unstemmed | Chromosome microarray analysis combined with karyotype analysis is a powerful tool for the detection in pregnant women with high-risk indicators |
| title_short | Chromosome microarray analysis combined with karyotype analysis is a powerful tool for the detection in pregnant women with high-risk indicators |
| title_sort | chromosome microarray analysis combined with karyotype analysis is a powerful tool for the detection in pregnant women with high risk indicators |
| topic | Prenatal diagnosis Chromosomal microarray analysis (CMA) Copy number variation (CNV) Karyotype analysis |
| url | https://doi.org/10.1186/s12884-023-06052-z |
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