Low-level mosaic trisomy 17 at amniocentesis in a pregnancy associated with a favorable fetal outcome and cytogenetic discrepancy between cultured and uncultured amniocytes
Objective: We present low-level mosaic trisomy 17 at amniocentesis in a pregnancy associated with a favorable fetal outcome and cytogenetic discrepancy between cultured and uncultured amniocytes. Case report: A 32-year-old, primigravid woman underwent amniocentesis at 18 weeks of gestation because o...
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| Format: | Article |
| Language: | English |
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Elsevier
2023-03-01
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| Series: | Taiwanese Journal of Obstetrics & Gynecology |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1028455923000372 |
| _version_ | 1797861160760901632 |
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| author | Chih-Ping Chen Shin-Wen Chen Schu-Rern Chern Yi-Yung Chen Fang-Tzu Wu Yen-Ting Pan Chen-Chi Lee Chen-Wen Pan Wayseen Wang |
| author_facet | Chih-Ping Chen Shin-Wen Chen Schu-Rern Chern Yi-Yung Chen Fang-Tzu Wu Yen-Ting Pan Chen-Chi Lee Chen-Wen Pan Wayseen Wang |
| author_sort | Chih-Ping Chen |
| collection | DOAJ |
| description | Objective: We present low-level mosaic trisomy 17 at amniocentesis in a pregnancy associated with a favorable fetal outcome and cytogenetic discrepancy between cultured and uncultured amniocytes. Case report: A 32-year-old, primigravid woman underwent amniocentesis at 18 weeks of gestation because of an increased nuchal translucency thickness of 3 mm in the first trimester sonographic screening. Amniocentesis revealed a karyotype of 47,XX,+17 [2]/46,XX [20]. Among 22 colonies of cultured amniocytes, two colonies had a karyotype of 47,XX,+17, whereas the rest 20 colonies had a karyotype of 46,XX. Simultaneous array comparative genomic hybridization (aCGH) on the DNA extracted from uncultured amniocytes revealed arr (1–22,X) × 2 with no genomic imbalance. Prenatal ultrasound and parental karyotypes were normal. Quantitative fluorescence polymerase chain reaction (QF-PCR) analysis on the DNA extracted from the parental bloods and cultured amniocytes excluded uniparental disomy (UPD) 17. The woman was encouraged to continue the pregnancy. A normal 3178-g female baby was delivered at 38 weeks of gestation without any phenotypic abnormalities. The karyotypes of cord blood, umbilical cord and placenta were all 46, XX (40/40 cells). When follow-up at age six months, the neonate was normal in physical and psychosomatic development. Conclusion: Low-level mosaic trisomy 17 at amniocentesis can be a transient and benign condition, and can be associated with a favorable fetal outcome and cytogenetic discrepancy between cultured and uncultured amniocytes. |
| first_indexed | 2024-04-09T21:57:35Z |
| format | Article |
| id | doaj.art-9b484333975144a28ee9b74217358ef6 |
| institution | Directory Open Access Journal |
| issn | 1028-4559 |
| language | English |
| last_indexed | 2024-04-09T21:57:35Z |
| publishDate | 2023-03-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Taiwanese Journal of Obstetrics & Gynecology |
| spelling | doaj.art-9b484333975144a28ee9b74217358ef62023-03-24T04:21:58ZengElsevierTaiwanese Journal of Obstetrics & Gynecology1028-45592023-03-01622351353Low-level mosaic trisomy 17 at amniocentesis in a pregnancy associated with a favorable fetal outcome and cytogenetic discrepancy between cultured and uncultured amniocytesChih-Ping Chen0Shin-Wen Chen1Schu-Rern Chern2Yi-Yung Chen3Fang-Tzu Wu4Yen-Ting Pan5Chen-Chi Lee6Chen-Wen Pan7Wayseen Wang8Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan; Institute of Clinical and Community Health Nursing, National Yang Ming Chiao Tung University, Taipei, Taiwan; Department of Obstetrics and Gynecology, School of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan; Department of Medical Laboratory Science and Biotechnology, College of Medical and Health Science, Asia University, Taichung, Taiwan; Corresponding author. Department of Obstetrics and Gynecology, MacKay Memorial Hospital, 92, Section 2, Chung-Shan North Road, Taipei 104217, Taiwan. Fax: +886-2-25433642, +886-2-25232448.Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, TaiwanDepartment of Medical Research, MacKay Memorial Hospital, Taipei, TaiwanDepartment of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, TaiwanDepartment of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, TaiwanDepartment of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, TaiwanDepartment of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, TaiwanDepartment of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, TaiwanDepartment of Medical Research, MacKay Memorial Hospital, Taipei, TaiwanObjective: We present low-level mosaic trisomy 17 at amniocentesis in a pregnancy associated with a favorable fetal outcome and cytogenetic discrepancy between cultured and uncultured amniocytes. Case report: A 32-year-old, primigravid woman underwent amniocentesis at 18 weeks of gestation because of an increased nuchal translucency thickness of 3 mm in the first trimester sonographic screening. Amniocentesis revealed a karyotype of 47,XX,+17 [2]/46,XX [20]. Among 22 colonies of cultured amniocytes, two colonies had a karyotype of 47,XX,+17, whereas the rest 20 colonies had a karyotype of 46,XX. Simultaneous array comparative genomic hybridization (aCGH) on the DNA extracted from uncultured amniocytes revealed arr (1–22,X) × 2 with no genomic imbalance. Prenatal ultrasound and parental karyotypes were normal. Quantitative fluorescence polymerase chain reaction (QF-PCR) analysis on the DNA extracted from the parental bloods and cultured amniocytes excluded uniparental disomy (UPD) 17. The woman was encouraged to continue the pregnancy. A normal 3178-g female baby was delivered at 38 weeks of gestation without any phenotypic abnormalities. The karyotypes of cord blood, umbilical cord and placenta were all 46, XX (40/40 cells). When follow-up at age six months, the neonate was normal in physical and psychosomatic development. Conclusion: Low-level mosaic trisomy 17 at amniocentesis can be a transient and benign condition, and can be associated with a favorable fetal outcome and cytogenetic discrepancy between cultured and uncultured amniocytes.http://www.sciencedirect.com/science/article/pii/S1028455923000372AmniocentesisCytogenetic discrepancyMosaicismMosaic trisomy 17 |
| spellingShingle | Chih-Ping Chen Shin-Wen Chen Schu-Rern Chern Yi-Yung Chen Fang-Tzu Wu Yen-Ting Pan Chen-Chi Lee Chen-Wen Pan Wayseen Wang Low-level mosaic trisomy 17 at amniocentesis in a pregnancy associated with a favorable fetal outcome and cytogenetic discrepancy between cultured and uncultured amniocytes Taiwanese Journal of Obstetrics & Gynecology Amniocentesis Cytogenetic discrepancy Mosaicism Mosaic trisomy 17 |
| title | Low-level mosaic trisomy 17 at amniocentesis in a pregnancy associated with a favorable fetal outcome and cytogenetic discrepancy between cultured and uncultured amniocytes |
| title_full | Low-level mosaic trisomy 17 at amniocentesis in a pregnancy associated with a favorable fetal outcome and cytogenetic discrepancy between cultured and uncultured amniocytes |
| title_fullStr | Low-level mosaic trisomy 17 at amniocentesis in a pregnancy associated with a favorable fetal outcome and cytogenetic discrepancy between cultured and uncultured amniocytes |
| title_full_unstemmed | Low-level mosaic trisomy 17 at amniocentesis in a pregnancy associated with a favorable fetal outcome and cytogenetic discrepancy between cultured and uncultured amniocytes |
| title_short | Low-level mosaic trisomy 17 at amniocentesis in a pregnancy associated with a favorable fetal outcome and cytogenetic discrepancy between cultured and uncultured amniocytes |
| title_sort | low level mosaic trisomy 17 at amniocentesis in a pregnancy associated with a favorable fetal outcome and cytogenetic discrepancy between cultured and uncultured amniocytes |
| topic | Amniocentesis Cytogenetic discrepancy Mosaicism Mosaic trisomy 17 |
| url | http://www.sciencedirect.com/science/article/pii/S1028455923000372 |
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