Case report: Prenatal diagnosis of rare chromosome mosaicism: discordant results between chorionic villi and amniotic fluid samples
Objective: We described a unique case of near-negative chromosome mosaicism in chorionic villi but complete monosomy X in amniotic fluid.Methods: Chorionic villus sampling and amniocentesis were performed separately in the first and second trimesters. Chromosomal microarray (CMA) and rapid aneuploid...
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| Format: | Article |
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Frontiers Media S.A.
2023-06-01
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| Series: | Frontiers in Genetics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fgene.2023.1165019/full |
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| author | Lingping Li Lingping Li Lingping Li Xijing Liu Xijing Liu Xijing Liu Qinqin Li Qinqin Li Qinqin Li Lili Zhang Lili Zhang Lili Zhang Yueyue Xiong Yueyue Xiong Yueyue Xiong Shanling Liu Shanling Liu Shanling Liu He Wang He Wang He Wang Hongmei Zhu Hongmei Zhu Hongmei Zhu Xuemei Zhang Xuemei Zhang Xuemei Zhang |
| author_facet | Lingping Li Lingping Li Lingping Li Xijing Liu Xijing Liu Xijing Liu Qinqin Li Qinqin Li Qinqin Li Lili Zhang Lili Zhang Lili Zhang Yueyue Xiong Yueyue Xiong Yueyue Xiong Shanling Liu Shanling Liu Shanling Liu He Wang He Wang He Wang Hongmei Zhu Hongmei Zhu Hongmei Zhu Xuemei Zhang Xuemei Zhang Xuemei Zhang |
| author_sort | Lingping Li |
| collection | DOAJ |
| description | Objective: We described a unique case of near-negative chromosome mosaicism in chorionic villi but complete monosomy X in amniotic fluid.Methods: Chorionic villus sampling and amniocentesis were performed separately in the first and second trimesters. Chromosomal microarray (CMA) and rapid aneuploidy detection (QF-PCR and FISH) were performed on placental villi and uncultured amniotic fluid. After pregnancy termination, the placenta, umbilical cord, and fetal muscle tissues were sampled for FISH detection.Results: The CMA revealed a lower signal from chromosome X in chorionic villi, with a copy number of 1.85, implying the presence of mosaic monosomy X. However, the QF-PCR and FISH results were nearly normal. In uncultured amniotic fluid, CMA and rapid aneuploidy detection indicated complete monosomy X. Across different sampling points on the aborted fetus, the FISH results varied from normal, to mosaic, and then complete monosomy X.Conclusion: This case presents a rare and complex situation where sampling from uncultured chorionic villi indicated low-level chromosome mosaicism, while sampling from amniotic fluid revealed complete monosomy X. Although some of these discordant outcomes may be due to methodological limitations, we conclude that prenatal consultation should be combined with fetal ultrasound phenotype and genetic testing for a comprehensive evaluation of fetal genetic abnormalities. |
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| institution | Directory Open Access Journal |
| issn | 1664-8021 |
| language | English |
| last_indexed | 2024-03-13T07:16:41Z |
| publishDate | 2023-06-01 |
| publisher | Frontiers Media S.A. |
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| series | Frontiers in Genetics |
| spelling | doaj.art-0d9189a502324dd69c2a32baaa2b6d752023-06-05T05:17:53ZengFrontiers Media S.A.Frontiers in Genetics1664-80212023-06-011410.3389/fgene.2023.11650191165019Case report: Prenatal diagnosis of rare chromosome mosaicism: discordant results between chorionic villi and amniotic fluid samplesLingping Li0Lingping Li1Lingping Li2Xijing Liu3Xijing Liu4Xijing Liu5Qinqin Li6Qinqin Li7Qinqin Li8Lili Zhang9Lili Zhang10Lili Zhang11Yueyue Xiong12Yueyue Xiong13Yueyue Xiong14Shanling Liu15Shanling Liu16Shanling Liu17He Wang18He Wang19He Wang20Hongmei Zhu21Hongmei Zhu22Hongmei Zhu23Xuemei Zhang24Xuemei Zhang25Xuemei Zhang26Department of Medical Genetics and Prenatal Diagnosis Center, West China Second University Hospital, Sichuan University, Chengdu, ChinaDepartment of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu, ChinaKey Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, ChinaDepartment of Medical Genetics and Prenatal Diagnosis Center, West China Second University Hospital, Sichuan University, Chengdu, ChinaDepartment of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu, ChinaKey Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, ChinaDepartment of Medical Genetics and Prenatal Diagnosis Center, West China Second University Hospital, Sichuan University, Chengdu, ChinaDepartment of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu, ChinaKey Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, ChinaDepartment of Medical Genetics and Prenatal Diagnosis Center, West China Second University Hospital, Sichuan University, Chengdu, ChinaDepartment of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu, ChinaKey Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, ChinaDepartment of Medical Genetics and Prenatal Diagnosis Center, West China Second University Hospital, Sichuan University, Chengdu, ChinaDepartment of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu, ChinaKey Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, ChinaDepartment of Medical Genetics and Prenatal Diagnosis Center, West China Second University Hospital, Sichuan University, Chengdu, ChinaDepartment of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu, ChinaKey Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, ChinaDepartment of Medical Genetics and Prenatal Diagnosis Center, West China Second University Hospital, Sichuan University, Chengdu, ChinaDepartment of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu, ChinaKey Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, ChinaDepartment of Medical Genetics and Prenatal Diagnosis Center, West China Second University Hospital, Sichuan University, Chengdu, ChinaDepartment of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu, ChinaKey Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, ChinaDepartment of Medical Genetics and Prenatal Diagnosis Center, West China Second University Hospital, Sichuan University, Chengdu, ChinaDepartment of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu, ChinaKey Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, ChinaObjective: We described a unique case of near-negative chromosome mosaicism in chorionic villi but complete monosomy X in amniotic fluid.Methods: Chorionic villus sampling and amniocentesis were performed separately in the first and second trimesters. Chromosomal microarray (CMA) and rapid aneuploidy detection (QF-PCR and FISH) were performed on placental villi and uncultured amniotic fluid. After pregnancy termination, the placenta, umbilical cord, and fetal muscle tissues were sampled for FISH detection.Results: The CMA revealed a lower signal from chromosome X in chorionic villi, with a copy number of 1.85, implying the presence of mosaic monosomy X. However, the QF-PCR and FISH results were nearly normal. In uncultured amniotic fluid, CMA and rapid aneuploidy detection indicated complete monosomy X. Across different sampling points on the aborted fetus, the FISH results varied from normal, to mosaic, and then complete monosomy X.Conclusion: This case presents a rare and complex situation where sampling from uncultured chorionic villi indicated low-level chromosome mosaicism, while sampling from amniotic fluid revealed complete monosomy X. Although some of these discordant outcomes may be due to methodological limitations, we conclude that prenatal consultation should be combined with fetal ultrasound phenotype and genetic testing for a comprehensive evaluation of fetal genetic abnormalities.https://www.frontiersin.org/articles/10.3389/fgene.2023.1165019/fullchromosome mosaicismprenatal diagnosisnuchal cystic hygromamonosomy Xgenetic testing |
| spellingShingle | Lingping Li Lingping Li Lingping Li Xijing Liu Xijing Liu Xijing Liu Qinqin Li Qinqin Li Qinqin Li Lili Zhang Lili Zhang Lili Zhang Yueyue Xiong Yueyue Xiong Yueyue Xiong Shanling Liu Shanling Liu Shanling Liu He Wang He Wang He Wang Hongmei Zhu Hongmei Zhu Hongmei Zhu Xuemei Zhang Xuemei Zhang Xuemei Zhang Case report: Prenatal diagnosis of rare chromosome mosaicism: discordant results between chorionic villi and amniotic fluid samples Frontiers in Genetics chromosome mosaicism prenatal diagnosis nuchal cystic hygroma monosomy X genetic testing |
| title | Case report: Prenatal diagnosis of rare chromosome mosaicism: discordant results between chorionic villi and amniotic fluid samples |
| title_full | Case report: Prenatal diagnosis of rare chromosome mosaicism: discordant results between chorionic villi and amniotic fluid samples |
| title_fullStr | Case report: Prenatal diagnosis of rare chromosome mosaicism: discordant results between chorionic villi and amniotic fluid samples |
| title_full_unstemmed | Case report: Prenatal diagnosis of rare chromosome mosaicism: discordant results between chorionic villi and amniotic fluid samples |
| title_short | Case report: Prenatal diagnosis of rare chromosome mosaicism: discordant results between chorionic villi and amniotic fluid samples |
| title_sort | case report prenatal diagnosis of rare chromosome mosaicism discordant results between chorionic villi and amniotic fluid samples |
| topic | chromosome mosaicism prenatal diagnosis nuchal cystic hygroma monosomy X genetic testing |
| url | https://www.frontiersin.org/articles/10.3389/fgene.2023.1165019/full |
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