Screening and prenatal diagnosis of survival motor neuron gene deletion in pregnant women in Zhaoqing city, Guangdong Province
Abstract Objective A total of 5,200 pregnant women in Zhaoqing city, Guangdong Province, were screened to identify spinal muscular atrophy (SMA) mutation carriers to guide the prevention of SMA and prevent the birth of children with SMA. Methods Exons 7 and 8 (E7 and E8) of the survival motor neuron...
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2023-03-01
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| Series: | BMC Medical Genomics |
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| Online Access: | https://doi.org/10.1186/s12920-023-01468-0 |
| _version_ | 1827982390006382592 |
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| author | Zhiwei Huang Qingchan Yang Jianxiang Ye Jianxing Huang Jin Lin Jing Chen Zizhao Liang Zijie Cao |
| author_facet | Zhiwei Huang Qingchan Yang Jianxiang Ye Jianxing Huang Jin Lin Jing Chen Zizhao Liang Zijie Cao |
| author_sort | Zhiwei Huang |
| collection | DOAJ |
| description | Abstract Objective A total of 5,200 pregnant women in Zhaoqing city, Guangdong Province, were screened to identify spinal muscular atrophy (SMA) mutation carriers to guide the prevention of SMA and prevent the birth of children with SMA. Methods Exons 7 and 8 (E7 and E8) of the survival motor neuron (SMN) 1 gene were detected in women using real-time fluorescence quantitative polymerase chain reaction. SMN1 and SMN2 copy numbers in those who were initially identified as carriers were verified via targeted region capture and next-generation sequencing. When both partners were identified as carriers, prenatal diagnosis of the fetus was performed. Results Among the screened women, 75 SMA carriers (71 cases had both E7 and E8 heterozygous deletions and 4 cases only had an E7 heterozygous deletion) were identified, with a carrier frequency of 1.44% (95% confidence interval: 1.31–1.65%). Three couples where both spouses were identified as SMA carriers, and their three fetuses were subjected to prenatal genetic analysis. Of the three, one had homozygous deletions of E7 and E8 and the other two had heterozygous deletions of E7 and E8. After a detailed prenatal consultation, the former couple decided to terminate the pregnancy. Conclusion Through screening and prenatal diagnosis of pregnant women in Zhaoqing city, Guangdong Province, the incidence of SMA can be reduced, prevention of birth defects can be improved, incidence of birth defects can be effectively minimized. |
| first_indexed | 2024-04-09T22:33:39Z |
| format | Article |
| id | doaj.art-2e46102ab2c4481c914b71bf0aa52c30 |
| institution | Directory Open Access Journal |
| issn | 1755-8794 |
| language | English |
| last_indexed | 2024-04-09T22:33:39Z |
| publishDate | 2023-03-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Medical Genomics |
| spelling | doaj.art-2e46102ab2c4481c914b71bf0aa52c302023-03-22T12:38:01ZengBMCBMC Medical Genomics1755-87942023-03-011611810.1186/s12920-023-01468-0Screening and prenatal diagnosis of survival motor neuron gene deletion in pregnant women in Zhaoqing city, Guangdong ProvinceZhiwei Huang0Qingchan Yang1Jianxiang Ye2Jianxing Huang3Jin Lin4Jing Chen5Zizhao Liang6Zijie Cao7Clinical Laboratory, The Second People’s Hospital of ZhaoqingClinical Laboratory, The Second People’s Hospital of ZhaoqingClinical Laboratory, The Second People’s Hospital of ZhaoqingClinical Laboratory, The Second People’s Hospital of ZhaoqingObstetrical Department, The Second People’s Hospital of ZhaoqingPrenatal Diagnosis Center, The Second People’s Hospital of ZhaoqingClinical Laboratory, The Second People’s Hospital of ZhaoqingClinical Laboratory, The Second People’s Hospital of ZhaoqingAbstract Objective A total of 5,200 pregnant women in Zhaoqing city, Guangdong Province, were screened to identify spinal muscular atrophy (SMA) mutation carriers to guide the prevention of SMA and prevent the birth of children with SMA. Methods Exons 7 and 8 (E7 and E8) of the survival motor neuron (SMN) 1 gene were detected in women using real-time fluorescence quantitative polymerase chain reaction. SMN1 and SMN2 copy numbers in those who were initially identified as carriers were verified via targeted region capture and next-generation sequencing. When both partners were identified as carriers, prenatal diagnosis of the fetus was performed. Results Among the screened women, 75 SMA carriers (71 cases had both E7 and E8 heterozygous deletions and 4 cases only had an E7 heterozygous deletion) were identified, with a carrier frequency of 1.44% (95% confidence interval: 1.31–1.65%). Three couples where both spouses were identified as SMA carriers, and their three fetuses were subjected to prenatal genetic analysis. Of the three, one had homozygous deletions of E7 and E8 and the other two had heterozygous deletions of E7 and E8. After a detailed prenatal consultation, the former couple decided to terminate the pregnancy. Conclusion Through screening and prenatal diagnosis of pregnant women in Zhaoqing city, Guangdong Province, the incidence of SMA can be reduced, prevention of birth defects can be improved, incidence of birth defects can be effectively minimized.https://doi.org/10.1186/s12920-023-01468-0Spinal muscular atrophySMN1Carrier screeningPrenatal diagnosis |
| spellingShingle | Zhiwei Huang Qingchan Yang Jianxiang Ye Jianxing Huang Jin Lin Jing Chen Zizhao Liang Zijie Cao Screening and prenatal diagnosis of survival motor neuron gene deletion in pregnant women in Zhaoqing city, Guangdong Province BMC Medical Genomics Spinal muscular atrophy SMN1 Carrier screening Prenatal diagnosis |
| title | Screening and prenatal diagnosis of survival motor neuron gene deletion in pregnant women in Zhaoqing city, Guangdong Province |
| title_full | Screening and prenatal diagnosis of survival motor neuron gene deletion in pregnant women in Zhaoqing city, Guangdong Province |
| title_fullStr | Screening and prenatal diagnosis of survival motor neuron gene deletion in pregnant women in Zhaoqing city, Guangdong Province |
| title_full_unstemmed | Screening and prenatal diagnosis of survival motor neuron gene deletion in pregnant women in Zhaoqing city, Guangdong Province |
| title_short | Screening and prenatal diagnosis of survival motor neuron gene deletion in pregnant women in Zhaoqing city, Guangdong Province |
| title_sort | screening and prenatal diagnosis of survival motor neuron gene deletion in pregnant women in zhaoqing city guangdong province |
| topic | Spinal muscular atrophy SMN1 Carrier screening Prenatal diagnosis |
| url | https://doi.org/10.1186/s12920-023-01468-0 |
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