Prenatal diagnosis of trisomy 8 mosaicism, initially identified by cffDNA screening
Abstract Background So called cell-free fetal DNA (cffDNA) in the maternal plasma, which is derived from placenta, is widely used to screen fetal aneuploidies, including trisomy 21, 18, 13 and sex chromosomes. Here we reported a case of trisomy 8 mosaicism (T8M), which was initially identified via c...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2022-09-01
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| Series: | Molecular Cytogenetics |
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| Online Access: | https://doi.org/10.1186/s13039-022-00616-y |
| _version_ | 1828352072045559808 |
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| author | Junjie Hu Kai Yan Pengzhen Jin Yanmei Yang Yixi Sun Minyue Dong |
| author_facet | Junjie Hu Kai Yan Pengzhen Jin Yanmei Yang Yixi Sun Minyue Dong |
| author_sort | Junjie Hu |
| collection | DOAJ |
| description | Abstract Background So called cell-free fetal DNA (cffDNA) in the maternal plasma, which is derived from placenta, is widely used to screen fetal aneuploidies, including trisomy 21, 18, 13 and sex chromosomes. Here we reported a case of trisomy 8 mosaicism (T8M), which was initially identified via cffDNA screening in noninvasive prenatal testing (NIPT). Methods A 35-year-old woman received cffDNA screening at 17th week of gestation. Amniocentesis was performed subsequently, and karyotyping, single-nucleotide polymorphism array (SNP-array) and BACs-on-Beads™ (BoBs™) were used to determine fetal chromosome content. Interphase fluorescence in situ hybridization (FISH) was applied to determine the copy number of chromosome 8. Results An enhanced risk for fetal trisomy 8 was identified by cffDNA screening in the studied pregnant woman. After amniocentesis trisomy 8 was found in 1 of 73 metaphases. SNP-array on DNA derived from cultured amniocytes and neonatal cord blood cells suggested the presence of T8M. Interphase FISH on native neonatal cord blood cells confirmed T8M with a percentage of 10%. The Bobs™ fluorescence data also suggested that 8q23-8q24 was amplified. Conclusions The current study shows that NIPT is suited to provide hints on rare autosomal trisomies, which have to be further validated and confirmed by other approaches. |
| first_indexed | 2024-04-14T01:48:44Z |
| format | Article |
| id | doaj.art-53e1be581e0645c9b100baaf1cffce60 |
| institution | Directory Open Access Journal |
| issn | 1755-8166 |
| language | English |
| last_indexed | 2024-04-14T01:48:44Z |
| publishDate | 2022-09-01 |
| publisher | BMC |
| record_format | Article |
| series | Molecular Cytogenetics |
| spelling | doaj.art-53e1be581e0645c9b100baaf1cffce602022-12-22T02:19:26ZengBMCMolecular Cytogenetics1755-81662022-09-011511710.1186/s13039-022-00616-yPrenatal diagnosis of trisomy 8 mosaicism, initially identified by cffDNA screeningJunjie Hu0Kai Yan1Pengzhen Jin2Yanmei Yang3Yixi Sun4Minyue Dong5Women’s Hospital, Zhejiang University School of MedicineWomen’s Hospital, Zhejiang University School of MedicineWomen’s Hospital, Zhejiang University School of MedicineWomen’s Hospital, Zhejiang University School of MedicineWomen’s Hospital, Zhejiang University School of MedicineWomen’s Hospital, Zhejiang University School of MedicineAbstract Background So called cell-free fetal DNA (cffDNA) in the maternal plasma, which is derived from placenta, is widely used to screen fetal aneuploidies, including trisomy 21, 18, 13 and sex chromosomes. Here we reported a case of trisomy 8 mosaicism (T8M), which was initially identified via cffDNA screening in noninvasive prenatal testing (NIPT). Methods A 35-year-old woman received cffDNA screening at 17th week of gestation. Amniocentesis was performed subsequently, and karyotyping, single-nucleotide polymorphism array (SNP-array) and BACs-on-Beads™ (BoBs™) were used to determine fetal chromosome content. Interphase fluorescence in situ hybridization (FISH) was applied to determine the copy number of chromosome 8. Results An enhanced risk for fetal trisomy 8 was identified by cffDNA screening in the studied pregnant woman. After amniocentesis trisomy 8 was found in 1 of 73 metaphases. SNP-array on DNA derived from cultured amniocytes and neonatal cord blood cells suggested the presence of T8M. Interphase FISH on native neonatal cord blood cells confirmed T8M with a percentage of 10%. The Bobs™ fluorescence data also suggested that 8q23-8q24 was amplified. Conclusions The current study shows that NIPT is suited to provide hints on rare autosomal trisomies, which have to be further validated and confirmed by other approaches.https://doi.org/10.1186/s13039-022-00616-yTrisomy 8 mosaicismCell-free fetal DNA (cffDNA)Noninvasive prenatal testing (NIPT)Rare autosomal trisomiesPrenatal diagnosis |
| spellingShingle | Junjie Hu Kai Yan Pengzhen Jin Yanmei Yang Yixi Sun Minyue Dong Prenatal diagnosis of trisomy 8 mosaicism, initially identified by cffDNA screening Molecular Cytogenetics Trisomy 8 mosaicism Cell-free fetal DNA (cffDNA) Noninvasive prenatal testing (NIPT) Rare autosomal trisomies Prenatal diagnosis |
| title | Prenatal diagnosis of trisomy 8 mosaicism, initially identified by cffDNA screening |
| title_full | Prenatal diagnosis of trisomy 8 mosaicism, initially identified by cffDNA screening |
| title_fullStr | Prenatal diagnosis of trisomy 8 mosaicism, initially identified by cffDNA screening |
| title_full_unstemmed | Prenatal diagnosis of trisomy 8 mosaicism, initially identified by cffDNA screening |
| title_short | Prenatal diagnosis of trisomy 8 mosaicism, initially identified by cffDNA screening |
| title_sort | prenatal diagnosis of trisomy 8 mosaicism initially identified by cffdna screening |
| topic | Trisomy 8 mosaicism Cell-free fetal DNA (cffDNA) Noninvasive prenatal testing (NIPT) Rare autosomal trisomies Prenatal diagnosis |
| url | https://doi.org/10.1186/s13039-022-00616-y |
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