Case report: Detection of fetal trisomy 9 mosaicism by multiple genetic testing methods: Report of two cases
Chromosomal mosaicism remains a perpetual diagnostic and clinical dilemma. In the present study, we detected two prenatal trisomy 9 mosaic syndrome cases by using multiple genetic testing methods. The non-invasive prenatal testing (NIPT) results suggested trisomy 9 in two fetuses. Karyotype analysis...
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Frontiers Media S.A.
2023-03-01
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| Series: | Frontiers in Genetics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fgene.2023.1121121/full |
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| author | Na Ma Zhenhua Zhu Jiancheng Hu Jialun Pang Shuting Yang Jing Liu Jing Chen Wanglan Tang Haiyan Kuang Rong Hu Zhuo Li Hua Wang Ying Peng Hui Xi |
| author_facet | Na Ma Zhenhua Zhu Jiancheng Hu Jialun Pang Shuting Yang Jing Liu Jing Chen Wanglan Tang Haiyan Kuang Rong Hu Zhuo Li Hua Wang Ying Peng Hui Xi |
| author_sort | Na Ma |
| collection | DOAJ |
| description | Chromosomal mosaicism remains a perpetual diagnostic and clinical dilemma. In the present study, we detected two prenatal trisomy 9 mosaic syndrome cases by using multiple genetic testing methods. The non-invasive prenatal testing (NIPT) results suggested trisomy 9 in two fetuses. Karyotype analysis of amniocytes showed a high level (42%–50%) of mosaicism, and chromosomal microarray analysis (CMA) of uncultured amniocytes showed no copy number variation (CNV) except for large fragment loss of heterozygosity. Ultrasound findings were unmarkable except for small for gestational age. In Case 1, further umbilical blood puncture confirmed 22.4% and 34% trisomy 9 mosaicism by CMA and fluorescent in situ hybridization (FISH) respectively. After comprehensive consideration of the genetic and ultrasound results, the two gravidas decided to receive elective termination and molecular investigations of multiple tissue samples from the aborted fetus and the placenta. The results confirmed the presence of true fetoplacental mosaicism with levels of trisomy 9 mosaicism from 76% to normal in various tissues. These two cases highlight the necessity of genetic counseling for gravidas whose NIPT results highly suggest the risk of chromosome 9 to ascertain the occurrence of mosaicism. In addition, the comprehensive use of multiple genetic techniques and biological samples is recommended for prenatal diagnosis to avoid false-negative results. It should also be noted that ultrasound results of organs with true trisomy 9 mosaicism can be free of structural abnormalities during pregnancy. |
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| last_indexed | 2024-04-10T04:33:58Z |
| publishDate | 2023-03-01 |
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| series | Frontiers in Genetics |
| spelling | doaj.art-80d17c4fc23245f89809b24653316e052023-03-10T05:12:42ZengFrontiers Media S.A.Frontiers in Genetics1664-80212023-03-011410.3389/fgene.2023.11211211121121Case report: Detection of fetal trisomy 9 mosaicism by multiple genetic testing methods: Report of two casesNa Ma0Zhenhua Zhu1Jiancheng Hu2Jialun Pang3Shuting Yang4Jing Liu5Jing Chen6Wanglan Tang7Haiyan Kuang8Rong Hu9Zhuo Li10Hua Wang11Ying Peng12Hui Xi13Department of Medical Genetics, Hunan Provincial Maternal and Child Healthcare Hospital, Changsha, ChinaDepartment of General Surgery, Changsha Central Hospital Affiliated to University of South China, Changsha, ChinaDepartment of Medical Genetics, Hunan Provincial Maternal and Child Healthcare Hospital, Changsha, ChinaDepartment of Medical Genetics, Hunan Provincial Maternal and Child Healthcare Hospital, Changsha, ChinaDepartment of Medical Genetics, Hunan Provincial Maternal and Child Healthcare Hospital, Changsha, ChinaDepartment of Medical Genetics, Hunan Provincial Maternal and Child Healthcare Hospital, Changsha, ChinaDepartment of Medical Genetics, Hunan Provincial Maternal and Child Healthcare Hospital, Changsha, ChinaDepartment of Medical Genetics, Hunan Provincial Maternal and Child Healthcare Hospital, Changsha, ChinaDepartment of Ultrasonography, Hunan Provincial Maternal and Child Healthcare Hospital, Changsha, ChinaDepartment of Medical Genetics, Hunan Provincial Maternal and Child Healthcare Hospital, Changsha, ChinaCenter for Medical Genetics and Hunan Key Laboratory of Medical Genetics School of Life Sciences, School of Life Sciences, Central South University, Changsha, ChinaDepartment of Medical Genetics, Hunan Children’s Hospital, Changsha, ChinaDepartment of Medical Genetics, Hunan Provincial Maternal and Child Healthcare Hospital, Changsha, ChinaDepartment of Medical Genetics, Hunan Provincial Maternal and Child Healthcare Hospital, Changsha, ChinaChromosomal mosaicism remains a perpetual diagnostic and clinical dilemma. In the present study, we detected two prenatal trisomy 9 mosaic syndrome cases by using multiple genetic testing methods. The non-invasive prenatal testing (NIPT) results suggested trisomy 9 in two fetuses. Karyotype analysis of amniocytes showed a high level (42%–50%) of mosaicism, and chromosomal microarray analysis (CMA) of uncultured amniocytes showed no copy number variation (CNV) except for large fragment loss of heterozygosity. Ultrasound findings were unmarkable except for small for gestational age. In Case 1, further umbilical blood puncture confirmed 22.4% and 34% trisomy 9 mosaicism by CMA and fluorescent in situ hybridization (FISH) respectively. After comprehensive consideration of the genetic and ultrasound results, the two gravidas decided to receive elective termination and molecular investigations of multiple tissue samples from the aborted fetus and the placenta. The results confirmed the presence of true fetoplacental mosaicism with levels of trisomy 9 mosaicism from 76% to normal in various tissues. These two cases highlight the necessity of genetic counseling for gravidas whose NIPT results highly suggest the risk of chromosome 9 to ascertain the occurrence of mosaicism. In addition, the comprehensive use of multiple genetic techniques and biological samples is recommended for prenatal diagnosis to avoid false-negative results. It should also be noted that ultrasound results of organs with true trisomy 9 mosaicism can be free of structural abnormalities during pregnancy.https://www.frontiersin.org/articles/10.3389/fgene.2023.1121121/fullkaryotypecopy number variation sequencingnon-invasive prenatal testingchromosomal microarray analysismosaicismtrisomy 9 |
| spellingShingle | Na Ma Zhenhua Zhu Jiancheng Hu Jialun Pang Shuting Yang Jing Liu Jing Chen Wanglan Tang Haiyan Kuang Rong Hu Zhuo Li Hua Wang Ying Peng Hui Xi Case report: Detection of fetal trisomy 9 mosaicism by multiple genetic testing methods: Report of two cases Frontiers in Genetics karyotype copy number variation sequencing non-invasive prenatal testing chromosomal microarray analysis mosaicism trisomy 9 |
| title | Case report: Detection of fetal trisomy 9 mosaicism by multiple genetic testing methods: Report of two cases |
| title_full | Case report: Detection of fetal trisomy 9 mosaicism by multiple genetic testing methods: Report of two cases |
| title_fullStr | Case report: Detection of fetal trisomy 9 mosaicism by multiple genetic testing methods: Report of two cases |
| title_full_unstemmed | Case report: Detection of fetal trisomy 9 mosaicism by multiple genetic testing methods: Report of two cases |
| title_short | Case report: Detection of fetal trisomy 9 mosaicism by multiple genetic testing methods: Report of two cases |
| title_sort | case report detection of fetal trisomy 9 mosaicism by multiple genetic testing methods report of two cases |
| topic | karyotype copy number variation sequencing non-invasive prenatal testing chromosomal microarray analysis mosaicism trisomy 9 |
| url | https://www.frontiersin.org/articles/10.3389/fgene.2023.1121121/full |
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