Chromosomal microarray analysis for prenatal diagnosis of uniparental disomy: a retrospective study
Abstract Background Chromosomal microarray analysis (CMA) is a valuable tool in prenatal diagnosis for the detection of chromosome uniparental disomy (UPD). This retrospective study examines fetuses undergoing invasive prenatal diagnosis through Affymetrix CytoScan 750 K array analysis. We evaluated...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2024-01-01
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| Series: | Molecular Cytogenetics |
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| Online Access: | https://doi.org/10.1186/s13039-023-00668-8 |
| _version_ | 1827326076406202368 |
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| author | Chenxia Xu Miaoyuan Li Tiancai Gu Fenghua Xie Yanfang Zhang Degang Wang Jianming Peng |
| author_facet | Chenxia Xu Miaoyuan Li Tiancai Gu Fenghua Xie Yanfang Zhang Degang Wang Jianming Peng |
| author_sort | Chenxia Xu |
| collection | DOAJ |
| description | Abstract Background Chromosomal microarray analysis (CMA) is a valuable tool in prenatal diagnosis for the detection of chromosome uniparental disomy (UPD). This retrospective study examines fetuses undergoing invasive prenatal diagnosis through Affymetrix CytoScan 750 K array analysis. We evaluated both chromosome G-banding karyotyping data and CMA results from 2007 cases subjected to amniocentesis. Results The detection rate of regions of homozygosity (ROH) ≥ 10 Mb was 1.8% (33/2007), with chromosome 11 being the most frequently implicated (17.1%, 6/33). There were three cases where UPD predicted an abnormal phenotype based on imprinted gene expression. Conclusion The integration of UPD detection by CMA offers a more precise approach to prenatal genetic diagnosis. CMA proves effective in identifying ROH and preventing the birth of children affected by imprinting diseases. |
| first_indexed | 2024-03-07T14:39:25Z |
| format | Article |
| id | doaj.art-107cfda82f7d4ccf93b7498e80d5d9b3 |
| institution | Directory Open Access Journal |
| issn | 1755-8166 |
| language | English |
| last_indexed | 2024-03-07T14:39:25Z |
| publishDate | 2024-01-01 |
| publisher | BMC |
| record_format | Article |
| series | Molecular Cytogenetics |
| spelling | doaj.art-107cfda82f7d4ccf93b7498e80d5d9b32024-03-05T20:27:21ZengBMCMolecular Cytogenetics1755-81662024-01-011711710.1186/s13039-023-00668-8Chromosomal microarray analysis for prenatal diagnosis of uniparental disomy: a retrospective studyChenxia Xu0Miaoyuan Li1Tiancai Gu2Fenghua Xie3Yanfang Zhang4Degang Wang5Jianming Peng6Prenatal Diagnosis Center, Boai Hospital of ZhongshanDepartment of Urology, The People’s Hospital of ZhongshanPrenatal Diagnosis Center, Boai Hospital of ZhongshanPrenatal Diagnosis Center, Boai Hospital of ZhongshanPrenatal Diagnosis Center, Boai Hospital of ZhongshanPrenatal Diagnosis Center, Boai Hospital of ZhongshanPrenatal Diagnosis Center, Boai Hospital of ZhongshanAbstract Background Chromosomal microarray analysis (CMA) is a valuable tool in prenatal diagnosis for the detection of chromosome uniparental disomy (UPD). This retrospective study examines fetuses undergoing invasive prenatal diagnosis through Affymetrix CytoScan 750 K array analysis. We evaluated both chromosome G-banding karyotyping data and CMA results from 2007 cases subjected to amniocentesis. Results The detection rate of regions of homozygosity (ROH) ≥ 10 Mb was 1.8% (33/2007), with chromosome 11 being the most frequently implicated (17.1%, 6/33). There were three cases where UPD predicted an abnormal phenotype based on imprinted gene expression. Conclusion The integration of UPD detection by CMA offers a more precise approach to prenatal genetic diagnosis. CMA proves effective in identifying ROH and preventing the birth of children affected by imprinting diseases.https://doi.org/10.1186/s13039-023-00668-8Chromosomal microarrayPrenatal diagnosisRegions of homozygositySNP arraysUniparental disomy |
| spellingShingle | Chenxia Xu Miaoyuan Li Tiancai Gu Fenghua Xie Yanfang Zhang Degang Wang Jianming Peng Chromosomal microarray analysis for prenatal diagnosis of uniparental disomy: a retrospective study Molecular Cytogenetics Chromosomal microarray Prenatal diagnosis Regions of homozygosity SNP arrays Uniparental disomy |
| title | Chromosomal microarray analysis for prenatal diagnosis of uniparental disomy: a retrospective study |
| title_full | Chromosomal microarray analysis for prenatal diagnosis of uniparental disomy: a retrospective study |
| title_fullStr | Chromosomal microarray analysis for prenatal diagnosis of uniparental disomy: a retrospective study |
| title_full_unstemmed | Chromosomal microarray analysis for prenatal diagnosis of uniparental disomy: a retrospective study |
| title_short | Chromosomal microarray analysis for prenatal diagnosis of uniparental disomy: a retrospective study |
| title_sort | chromosomal microarray analysis for prenatal diagnosis of uniparental disomy a retrospective study |
| topic | Chromosomal microarray Prenatal diagnosis Regions of homozygosity SNP arrays Uniparental disomy |
| url | https://doi.org/10.1186/s13039-023-00668-8 |
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