Case Report: Prenatal diagnosis of fetal tetrasomy 9p initially identified by non-invasive prenatal testing
Tetrasomy 9p is a rare syndrome characterized by fetal growth restriction, Dandy-Walker malformation, cardiac anomalies, and facial abnormalities and is discovered by ultrasound during the prenatal examination. Herein, we report a fetus of tetrasomy 9p without obvious phenotypic manifestations durin...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2022-10-01
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| Series: | Frontiers in Genetics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fgene.2022.1020525/full |
| _version_ | 1828099775143084032 |
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| author | Jialing Yu Na Chen Min Chen Min Shen Yeqing Qian Minyue Dong Minyue Dong Minyue Dong |
| author_facet | Jialing Yu Na Chen Min Chen Min Shen Yeqing Qian Minyue Dong Minyue Dong Minyue Dong |
| author_sort | Jialing Yu |
| collection | DOAJ |
| description | Tetrasomy 9p is a rare syndrome characterized by fetal growth restriction, Dandy-Walker malformation, cardiac anomalies, and facial abnormalities and is discovered by ultrasound during the prenatal examination. Herein, we report a fetus of tetrasomy 9p without obvious phenotypic manifestations during the first trimester that was identified by non-invasive prenatal testing (NIPT). NIPT revealed that the gain of 9p24.3–9p11 that was approximately 46.36 Mb in size. Karyotyping of amniocytes indicated an additional marker in all metaphase. Chromosome microarray and fluorescence in situ hybridization on uncultured amniocytes revealed tetrasomic of 9p24.3q13, and that the supernumerary chromosome is a dicentric isochromosome consisted of two copies of the 9p arm. Taken together, it was indicated that the fetal karyotype was 47,XY,+idic (9) (q13), and that multiple techniques are crucial to the prenatal diagnosis. |
| first_indexed | 2024-04-11T08:18:48Z |
| format | Article |
| id | doaj.art-162d4d57a1b0474cbd64adbc6db2e70c |
| institution | Directory Open Access Journal |
| issn | 1664-8021 |
| language | English |
| last_indexed | 2024-04-11T08:18:48Z |
| publishDate | 2022-10-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Genetics |
| spelling | doaj.art-162d4d57a1b0474cbd64adbc6db2e70c2022-12-22T04:35:01ZengFrontiers Media S.A.Frontiers in Genetics1664-80212022-10-011310.3389/fgene.2022.10205251020525Case Report: Prenatal diagnosis of fetal tetrasomy 9p initially identified by non-invasive prenatal testingJialing Yu0Na Chen1Min Chen2Min Shen3Yeqing Qian4Minyue Dong5Minyue Dong6Minyue Dong7Women’s Hospital, School of Medicine, Zhejiang University, Hangzhou, Zhejiang, ChinaWomen’s Hospital, School of Medicine, Zhejiang University, Hangzhou, Zhejiang, ChinaWomen’s Hospital, School of Medicine, Zhejiang University, Hangzhou, Zhejiang, ChinaWomen’s Hospital, School of Medicine, Zhejiang University, Hangzhou, Zhejiang, ChinaWomen’s Hospital, School of Medicine, Zhejiang University, Hangzhou, Zhejiang, ChinaWomen’s Hospital, School of Medicine, Zhejiang University, Hangzhou, Zhejiang, ChinaKey Laboratory of Reproductive Genetics Zhejiang University, Ministry of Education, Hangzhou, Zhejiang, ChinaKey Laboratory of Women’s Reproductive Health of Zhejiang Province, Women’s Hospital, School of Medicine, Zhejiang University, Hangzhou, ChinaTetrasomy 9p is a rare syndrome characterized by fetal growth restriction, Dandy-Walker malformation, cardiac anomalies, and facial abnormalities and is discovered by ultrasound during the prenatal examination. Herein, we report a fetus of tetrasomy 9p without obvious phenotypic manifestations during the first trimester that was identified by non-invasive prenatal testing (NIPT). NIPT revealed that the gain of 9p24.3–9p11 that was approximately 46.36 Mb in size. Karyotyping of amniocytes indicated an additional marker in all metaphase. Chromosome microarray and fluorescence in situ hybridization on uncultured amniocytes revealed tetrasomic of 9p24.3q13, and that the supernumerary chromosome is a dicentric isochromosome consisted of two copies of the 9p arm. Taken together, it was indicated that the fetal karyotype was 47,XY,+idic (9) (q13), and that multiple techniques are crucial to the prenatal diagnosis.https://www.frontiersin.org/articles/10.3389/fgene.2022.1020525/fulltetrasomy 9p syndromeNIPTprenatal diagnosisCMAkaryotyping |
| spellingShingle | Jialing Yu Na Chen Min Chen Min Shen Yeqing Qian Minyue Dong Minyue Dong Minyue Dong Case Report: Prenatal diagnosis of fetal tetrasomy 9p initially identified by non-invasive prenatal testing Frontiers in Genetics tetrasomy 9p syndrome NIPT prenatal diagnosis CMA karyotyping |
| title | Case Report: Prenatal diagnosis of fetal tetrasomy 9p initially identified by non-invasive prenatal testing |
| title_full | Case Report: Prenatal diagnosis of fetal tetrasomy 9p initially identified by non-invasive prenatal testing |
| title_fullStr | Case Report: Prenatal diagnosis of fetal tetrasomy 9p initially identified by non-invasive prenatal testing |
| title_full_unstemmed | Case Report: Prenatal diagnosis of fetal tetrasomy 9p initially identified by non-invasive prenatal testing |
| title_short | Case Report: Prenatal diagnosis of fetal tetrasomy 9p initially identified by non-invasive prenatal testing |
| title_sort | case report prenatal diagnosis of fetal tetrasomy 9p initially identified by non invasive prenatal testing |
| topic | tetrasomy 9p syndrome NIPT prenatal diagnosis CMA karyotyping |
| url | https://www.frontiersin.org/articles/10.3389/fgene.2022.1020525/full |
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