Mosaic 45,X/46, XX at amniocentesis with high-level mosaicism for 45,X in a pregnancy with a favorable fetal outcome and postnatal decrease of the 45,X cell line
Objective: We present mosaic 45,X/46, XX at amniocentesis with high-level mosaicism for 45,X in a pregnancy with a favorable fetal outcome and postnatal decrease of the 45,X cell line. Case report: A 20-year-old, primigravid woman underwent amniocentesis at 17 weeks of gestation because of the non-i...
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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/S1028455923000360 |
| _version_ | 1797861129344516096 |
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| author | Chih-Ping Chen Shin-Wen Chen Liang-Kai Wang Fang-Tzu Wu Yen-Ting Pan Chen-Chi Lee Meng-Shan Lee Chen-Wen Pan Yun-Yi Chen Wayseen Wang |
| author_facet | Chih-Ping Chen Shin-Wen Chen Liang-Kai Wang Fang-Tzu Wu Yen-Ting Pan Chen-Chi Lee Meng-Shan Lee Chen-Wen Pan Yun-Yi Chen Wayseen Wang |
| author_sort | Chih-Ping Chen |
| collection | DOAJ |
| description | Objective: We present mosaic 45,X/46, XX at amniocentesis with high-level mosaicism for 45,X in a pregnancy with a favorable fetal outcome and postnatal decrease of the 45,X cell line. Case report: A 20-year-old, primigravid woman underwent amniocentesis at 17 weeks of gestation because of the non-invasive prenatal testing (NIPT) result of −4.82 Z score in sex chromosome at 12 weeks of gestation suggestive of Turner syndrome in the fetus. Amniocentesis revealed a karyotype of 45,X [18]/46,XX [15], and simultaneous multiplex ligation-dependent probe amplification (MLPA) on the DNA extracted from uncultured amniocytes showed mosaic Turner syndrome. Prenatal ultrasound and parental karyotypes were normal. She was referred for genetic counseling at 24 weeks of gestation, and continuing pregnancy was encouraged. At 39 weeks of gestation, a 2550-g phenotypically normal female baby was delivered. The karyotypes of cord blood, umbilical cord and placenta were 45,X [24]/46,XX [16], 45,X [23]/46,XX [17] and 45,X [28]/46,X,del(X) (q23)[12], respectively. When follow-up at age two months, the neonate was phenotypically normal in development. The peripheral blood had a karyotypes of 45,X [16]/46,XX [24]. Interphase fluorescence in situ hybridization (FISH) analysis on 103 buccal mucosal cells showed normal disomy X signals in all cells. Conclusion: High-level mosaicism for 45,X in 45,X/46, XX at amniocentesis can be associated with a favorable fetal outcome, cytogenetic discrepancy in various tissues, and postnatal decrease of the 45,X cell line. |
| first_indexed | 2024-04-09T21:57:05Z |
| format | Article |
| id | doaj.art-16f82a711582486290615e541dc64171 |
| institution | Directory Open Access Journal |
| issn | 1028-4559 |
| language | English |
| last_indexed | 2024-04-09T21:57:05Z |
| publishDate | 2023-03-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Taiwanese Journal of Obstetrics & Gynecology |
| spelling | doaj.art-16f82a711582486290615e541dc641712023-03-24T04:21:58ZengElsevierTaiwanese Journal of Obstetrics & Gynecology1028-45592023-03-01622348350Mosaic 45,X/46, XX at amniocentesis with high-level mosaicism for 45,X in a pregnancy with a favorable fetal outcome and postnatal decrease of the 45,X cell lineChih-Ping Chen0Shin-Wen Chen1Liang-Kai Wang2Fang-Tzu Wu3Yen-Ting Pan4Chen-Chi Lee5Meng-Shan Lee6Chen-Wen Pan7Yun-Yi Chen8Wayseen Wang9Department 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 & 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 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 Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, TaiwanDepartment of Medical Research, MacKay Memorial Hospital, Taipei, TaiwanDepartment of Medical Research, MacKay Memorial Hospital, Taipei, TaiwanObjective: We present mosaic 45,X/46, XX at amniocentesis with high-level mosaicism for 45,X in a pregnancy with a favorable fetal outcome and postnatal decrease of the 45,X cell line. Case report: A 20-year-old, primigravid woman underwent amniocentesis at 17 weeks of gestation because of the non-invasive prenatal testing (NIPT) result of −4.82 Z score in sex chromosome at 12 weeks of gestation suggestive of Turner syndrome in the fetus. Amniocentesis revealed a karyotype of 45,X [18]/46,XX [15], and simultaneous multiplex ligation-dependent probe amplification (MLPA) on the DNA extracted from uncultured amniocytes showed mosaic Turner syndrome. Prenatal ultrasound and parental karyotypes were normal. She was referred for genetic counseling at 24 weeks of gestation, and continuing pregnancy was encouraged. At 39 weeks of gestation, a 2550-g phenotypically normal female baby was delivered. The karyotypes of cord blood, umbilical cord and placenta were 45,X [24]/46,XX [16], 45,X [23]/46,XX [17] and 45,X [28]/46,X,del(X) (q23)[12], respectively. When follow-up at age two months, the neonate was phenotypically normal in development. The peripheral blood had a karyotypes of 45,X [16]/46,XX [24]. Interphase fluorescence in situ hybridization (FISH) analysis on 103 buccal mucosal cells showed normal disomy X signals in all cells. Conclusion: High-level mosaicism for 45,X in 45,X/46, XX at amniocentesis can be associated with a favorable fetal outcome, cytogenetic discrepancy in various tissues, and postnatal decrease of the 45,X cell line.http://www.sciencedirect.com/science/article/pii/S102845592300036045,X mosaicism45,X/46,XXAmniocentesisMosaic turner syndrome |
| spellingShingle | Chih-Ping Chen Shin-Wen Chen Liang-Kai Wang Fang-Tzu Wu Yen-Ting Pan Chen-Chi Lee Meng-Shan Lee Chen-Wen Pan Yun-Yi Chen Wayseen Wang Mosaic 45,X/46, XX at amniocentesis with high-level mosaicism for 45,X in a pregnancy with a favorable fetal outcome and postnatal decrease of the 45,X cell line Taiwanese Journal of Obstetrics & Gynecology 45,X mosaicism 45,X/46,XX Amniocentesis Mosaic turner syndrome |
| title | Mosaic 45,X/46, XX at amniocentesis with high-level mosaicism for 45,X in a pregnancy with a favorable fetal outcome and postnatal decrease of the 45,X cell line |
| title_full | Mosaic 45,X/46, XX at amniocentesis with high-level mosaicism for 45,X in a pregnancy with a favorable fetal outcome and postnatal decrease of the 45,X cell line |
| title_fullStr | Mosaic 45,X/46, XX at amniocentesis with high-level mosaicism for 45,X in a pregnancy with a favorable fetal outcome and postnatal decrease of the 45,X cell line |
| title_full_unstemmed | Mosaic 45,X/46, XX at amniocentesis with high-level mosaicism for 45,X in a pregnancy with a favorable fetal outcome and postnatal decrease of the 45,X cell line |
| title_short | Mosaic 45,X/46, XX at amniocentesis with high-level mosaicism for 45,X in a pregnancy with a favorable fetal outcome and postnatal decrease of the 45,X cell line |
| title_sort | mosaic 45 x 46 xx at amniocentesis with high level mosaicism for 45 x in a pregnancy with a favorable fetal outcome and postnatal decrease of the 45 x cell line |
| topic | 45,X mosaicism 45,X/46,XX Amniocentesis Mosaic turner syndrome |
| url | http://www.sciencedirect.com/science/article/pii/S1028455923000360 |
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