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Tytuł:
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Prenatal diagnosis of trisomy 11 in a single colony of cultured amniocytes at amniocentesis in a pregnancy with a favorable outcome.
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Autorzy:
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Chen CP; Department 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 Biotechnology, Asia University, Taichung, Taiwan. Electronic address: cpc_.
Hsieh CE; Department of Obstetrics and Gynecology, Hsinchu MacKay Memorial Hospital, Hsinchu, Taiwan.
Chern SR; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.
Chen SW; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan.
Wu FT; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan.
Town DD; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan.
Wang W; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.
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Źródło:
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Taiwanese journal of obstetrics & gynecology [Taiwan J Obstet Gynecol] 2021 May; Vol. 60 (3), pp. 540-542.
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Typ publikacji:
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Case Reports
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Język:
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English
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Imprint Name(s):
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Publication: 2007- : Taipei, Taiwan : Elsevier
Original Publication: Hong Kong : Elsevier (Singapore)
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MeSH Terms:
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Amniocentesis*
Chromosomes, Human, Pair 11/*genetics
Live Birth/*genetics
Trisomy/*diagnosis
Adult ; Female ; Humans ; In Situ Hybridization, Fluorescence ; Infant, Newborn ; Karyotype ; Karyotyping ; Mosaicism ; Pregnancy ; Trisomy/genetics
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Contributed Indexing:
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Keywords: Amniocentesis; Mosaic trisomy 11; Prenatal diagnosis; Single colony
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Entry Date(s):
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Date Created: 20210510 Date Completed: 20211020 Latest Revision: 20211020
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Update Code:
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20240105
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DOI:
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10.1016/j.tjog.2021.03.028
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PMID:
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33966744
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Objective: We present prenatal diagnosis of trisomy 11 in a single colony of cultured amniocytes at amniocentesis and the perinatal outcome.
Case Report: A 36-year-old, gravida 2, para 1, woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 47,XX,+11[1]/46,XX[16]. In 17 colonies of cultured amniocytes, all five cells in one colony had a karyotype of 47,XX,+11, while the rest 16 colonies had a normal karyotype. The parental karyotypes were normal. Repeat amniocentesis was performed at 21 weeks of gestation. Interphase fluorescence in situ hybridization (FISH) was applied on the uncultured amniocytes, and the result revealed 0.9% mosaicism (1/101 cells) for trisomy 11 with only one cell with three signals, while the other 100 cells had two signals, compared with no trisomy 11 signals (0/100 cells) in the normal control. Uniparental disomy (UPD) 11 was excluded by polymorphic DNA marker analysis on the DNAs extracted from uncultured amniocytes and parental bloods. The cultured amniocytes at repeat amniocentesis revealed a karyotype of 46, XX in 28/28 colonies. Prenatal ultrasound findings were unremarkable. The pregnancy was continued to 38 weeks of gestation, and a 2724-g healthy female baby was delivered. The cord blood had a karyotype of 46,XX. The interphase FISH analysis on buccal mucosal cells revealed no trisomy 11 signals (0/100 cells). When follow-up at three months of age, the neonate manifested normal psychomotor and physical development.
Conclusion: Prenatal diagnosis of mosaic trisomy 11 in a single colony at amniocentesis without abnormal fetal ultrasound and UPD 11 can be associated with a favorable outcome.
Competing Interests: Declaration of competing interest The authors have no conflicts of interest relevant to this article.
(Copyright © 2021. Published by Elsevier B.V.)
