Prenatal diagnosis of low-level mosaicism for trisomy 21 by amniocentesis in a pregnancy associated with maternal uniparental disomy of chromosome 21 in the fetus and a favorable outcome
Objective: We present perinatal molecular cytogenetic analysis of low-level mosaicism for trisomy 21 in a pregnancy with maternal uniparental disomy (UPD) of chromosome 21 in the fetus. Case report: A 39-year-old woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age...
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| Format: | Article |
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Elsevier
2020-09-01
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| Series: | Taiwanese Journal of Obstetrics & Gynecology |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1028455920301777 |
| _version_ | 1823997077991981056 |
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| author | Chih-Ping Chen Tsang-Ming Ko Yi-Yung Chen Schu-Rern Chern Peih-Shan Wu Shin-Wen Chen Fang-Tzu Wu Yun-Yi Chen Wen-Lin Chen Chen-Wen Pan Wayseen Wang |
| author_facet | Chih-Ping Chen Tsang-Ming Ko Yi-Yung Chen Schu-Rern Chern Peih-Shan Wu Shin-Wen Chen Fang-Tzu Wu Yun-Yi Chen Wen-Lin Chen Chen-Wen Pan Wayseen Wang |
| author_sort | Chih-Ping Chen |
| collection | DOAJ |
| description | Objective: We present perinatal molecular cytogenetic analysis of low-level mosaicism for trisomy 21 in a pregnancy with maternal uniparental disomy (UPD) of chromosome 21 in the fetus. Case report: A 39-year-old woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 47,XX,+21[6]/46,XX[25]. Simultaneous array comparative genomic hybridization (aCGH) analysis on the DNA extracted from uncultured amniocytes revealed arr (21) × 2–3, (X) × 2 with about 18% gene dosage increase in chromosome 21 consistent with mosaic trisomy 21. Cordocentesis was performed at 20 weeks of gestation, and the cord blood lymphocytes had a karyotype of 47,XX,+21[3]/46,XX[72]. Prenatal ultrasound findings were unremarkable. After genetic counseling, the parents decided to continue the pregnancy. At 39 weeks of gestation, a 3,494-g phenotypically normal female baby was delivered without phenotypic features of Down syndrome. There was no dysplasia of middle phalanx of the fifth fingers of both hands. The cord blood had a karyotype of 47,XX,+21[2]/46,XX[48]. The placenta had a karyotype of 47,XX,+21[37]/46,XX[3]. The umbilical cord had a karyotype of 47,XX,+21[1]/46,XX[39]. aCGH analysis on the DNA extracted from cord blood revealed no genomic imbalance. Polymorphic DNA marker analysis on the DNAs extracted from cord blood and parental bloods revealed maternal uniparental heterodisomy 21 in the baby. Interphase fluorescence in situ hybridization analysis on buccal mucosal cells revealed trisomy 21 signals in 15/101 (14.9%) buccal cells at birth and in 1/122 (0.82%) buccal cells at age 45 days. Conclusion: Low-level mosaicism for trisomy 21 at amniocentesis associated with maternal UPD 21 in the fetus can have a favorable outcome. |
| first_indexed | 2024-12-18T17:10:52Z |
| format | Article |
| id | doaj.art-9b622db1efb148e696a3206aff10efd7 |
| institution | Directory Open Access Journal |
| issn | 1028-4559 |
| language | English |
| last_indexed | 2024-12-18T17:10:52Z |
| publishDate | 2020-09-01 |
| publisher | Elsevier |
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| series | Taiwanese Journal of Obstetrics & Gynecology |
| spelling | doaj.art-9b622db1efb148e696a3206aff10efd72022-12-21T21:00:12ZengElsevierTaiwanese Journal of Obstetrics & Gynecology1028-45592020-09-01595754757Prenatal diagnosis of low-level mosaicism for trisomy 21 by amniocentesis in a pregnancy associated with maternal uniparental disomy of chromosome 21 in the fetus and a favorable outcomeChih-Ping Chen0Tsang-Ming Ko1Yi-Yung Chen2Schu-Rern Chern3Peih-Shan Wu4Shin-Wen Chen5Fang-Tzu Wu6Yun-Yi Chen7Wen-Lin Chen8Chen-Wen Pan9Wayseen Wang10Department 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 University, Taipei, Taiwan; Department of Obstetrics and Gynecology, School of Medicine, National Yang-Ming University, Taipei, Taiwan; Corresponding author. Department of Obstetrics and Gynecology, MacKay Memorial Hospital, 92, Section 2, Chung-Shan North Road, Taipei, 104215, Taiwan. Fax: +886 2 25433642, +886 2 25232448.Genephile Bioscience Laboratory, Ko's Obstetrics and Gynecology, Taipei, TaiwanDepartment of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, TaiwanDepartment of Medical Research, MacKay Memorial Hospital, Taipei, TaiwanGene Biodesign Co. Ltd, 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 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 perinatal molecular cytogenetic analysis of low-level mosaicism for trisomy 21 in a pregnancy with maternal uniparental disomy (UPD) of chromosome 21 in the fetus. Case report: A 39-year-old woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 47,XX,+21[6]/46,XX[25]. Simultaneous array comparative genomic hybridization (aCGH) analysis on the DNA extracted from uncultured amniocytes revealed arr (21) × 2–3, (X) × 2 with about 18% gene dosage increase in chromosome 21 consistent with mosaic trisomy 21. Cordocentesis was performed at 20 weeks of gestation, and the cord blood lymphocytes had a karyotype of 47,XX,+21[3]/46,XX[72]. Prenatal ultrasound findings were unremarkable. After genetic counseling, the parents decided to continue the pregnancy. At 39 weeks of gestation, a 3,494-g phenotypically normal female baby was delivered without phenotypic features of Down syndrome. There was no dysplasia of middle phalanx of the fifth fingers of both hands. The cord blood had a karyotype of 47,XX,+21[2]/46,XX[48]. The placenta had a karyotype of 47,XX,+21[37]/46,XX[3]. The umbilical cord had a karyotype of 47,XX,+21[1]/46,XX[39]. aCGH analysis on the DNA extracted from cord blood revealed no genomic imbalance. Polymorphic DNA marker analysis on the DNAs extracted from cord blood and parental bloods revealed maternal uniparental heterodisomy 21 in the baby. Interphase fluorescence in situ hybridization analysis on buccal mucosal cells revealed trisomy 21 signals in 15/101 (14.9%) buccal cells at birth and in 1/122 (0.82%) buccal cells at age 45 days. Conclusion: Low-level mosaicism for trisomy 21 at amniocentesis associated with maternal UPD 21 in the fetus can have a favorable outcome.http://www.sciencedirect.com/science/article/pii/S1028455920301777AmniocentesisMosaic trisomy 21Uniparental disomy (UPD) 21 |
| spellingShingle | Chih-Ping Chen Tsang-Ming Ko Yi-Yung Chen Schu-Rern Chern Peih-Shan Wu Shin-Wen Chen Fang-Tzu Wu Yun-Yi Chen Wen-Lin Chen Chen-Wen Pan Wayseen Wang Prenatal diagnosis of low-level mosaicism for trisomy 21 by amniocentesis in a pregnancy associated with maternal uniparental disomy of chromosome 21 in the fetus and a favorable outcome Taiwanese Journal of Obstetrics & Gynecology Amniocentesis Mosaic trisomy 21 Uniparental disomy (UPD) 21 |
| title | Prenatal diagnosis of low-level mosaicism for trisomy 21 by amniocentesis in a pregnancy associated with maternal uniparental disomy of chromosome 21 in the fetus and a favorable outcome |
| title_full | Prenatal diagnosis of low-level mosaicism for trisomy 21 by amniocentesis in a pregnancy associated with maternal uniparental disomy of chromosome 21 in the fetus and a favorable outcome |
| title_fullStr | Prenatal diagnosis of low-level mosaicism for trisomy 21 by amniocentesis in a pregnancy associated with maternal uniparental disomy of chromosome 21 in the fetus and a favorable outcome |
| title_full_unstemmed | Prenatal diagnosis of low-level mosaicism for trisomy 21 by amniocentesis in a pregnancy associated with maternal uniparental disomy of chromosome 21 in the fetus and a favorable outcome |
| title_short | Prenatal diagnosis of low-level mosaicism for trisomy 21 by amniocentesis in a pregnancy associated with maternal uniparental disomy of chromosome 21 in the fetus and a favorable outcome |
| title_sort | prenatal diagnosis of low level mosaicism for trisomy 21 by amniocentesis in a pregnancy associated with maternal uniparental disomy of chromosome 21 in the fetus and a favorable outcome |
| topic | Amniocentesis Mosaic trisomy 21 Uniparental disomy (UPD) 21 |
| url | http://www.sciencedirect.com/science/article/pii/S1028455920301777 |
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