PMID- 32127159
OWN - NLM
STAT- MEDLINE
DCOM- 20201214
LR  - 20201214
IS  - 1875-6263 (Electronic)
IS  - 1028-4559 (Linking)
VI  - 59
IP  - 2
DP  - 2020 Mar
TI  - Prenatal diagnosis of low-level mosaic trisomy 20 by amniocentesis in a pregnancy 
      with a favorable outcome.
PG  - 327-330
LID - S1028-4559(20)30026-7 [pii]
LID - 10.1016/j.tjog.2020.01.026 [doi]
AB  - OBJECTIVE: We present prenatal diagnosis of low-level mosaic trisomy 20 by 
      amniocentesis in a pregnancy with a favorable outcome. CASE REPORT: A 35-year-old 
      woman underwent amniocentesis at 17 weeks of gestation because of advanced 
      maternal age. Amniocentesis revealed a karyotype of 47,XX,+20[8]/46,XX[23]. The 
      parental karyotypes were normal, and prenatal ultrasound findings were 
      unremarkable. Repeat amniocentesis performed at 20 weeks of gestation revealed a 
      karyotype of 47,XX,+20[2]/46,XX[19]. Simultaneous molecular cytogenetic tests 
      using uncultured amniocytes revealed no genomic imbalance in array comparative 
      genomic hybridization (aCGH) analysis and a mosaic level of 14.3% (15/105 cells) 
      in interphase fluorescence in situ hybridization (FISH) analysis. Polymorphic DNA 
      marker analysis using the DNAs extracted from uncultured amniocytes and parental 
      bloods excluded uniparental disomy 20. At 39 weeks of gestation, a phenotypically 
      normal 3580-g female baby was delivered without any structural abnormality. The 
      neonate was doing well at age two years during postnatal follow-ups. Her 
      psychomotor development was normal. Interphase FISH analysis of urinary cells 
      revealed no trisomy 20 signals in 45/45 urinary cells. The peripheral blood had a 
      karyotype of 46,XX in 40/40 lymphocytes. CONCLUSION: Fetuses with low-level 
      mosaic trisomy 20 at amniocentesis can have a favorable outcome. Molecular 
      cytogenetic analysis on uncultured amniocytes is useful for confirmatory 
      diagnosis of the mosaic level in case of mosaic trisomy 20 at amniocentesis with 
      different mosaic levels at different amniocenteses.
CI  - Copyright (c) 2020. Published by Elsevier B.V.
FAU - Chen, Chih-Ping
AU  - Chen CP
AD  - Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, 
      Taiwan; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; 
      Department of Biotechnology, Asia University, Taichung, 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. Electronic address: 
      cpc_mmh@yahoo.com.
FAU - Kuo, Yu-Ling
AU  - Kuo YL
AD  - Department of Obstetrics and Gynecology, Kaohsiung Medical University Hospital, 
      Kaohsiung Medical University, Kaohsiung, Taiwan.
FAU - Chern, Schu-Rern
AU  - Chern SR
AD  - Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.
FAU - Wu, Peih-Shan
AU  - Wu PS
AD  - Gene Biodesign Co. Ltd, Taipei, Taiwan.
FAU - Chen, Shin-Wen
AU  - Chen SW
AD  - Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, 
      Taiwan.
FAU - Wu, Fang-Tzu
AU  - Wu FT
AD  - Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, 
      Taiwan.
FAU - Chen, Li-Feng
AU  - Chen LF
AD  - Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, 
      Taiwan.
FAU - Wang, Wayseen
AU  - Wang W
AD  - Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; 
      Department of Bioengineering, Tatung University, Taipei, Taiwan.
LA  - eng
PT  - Case Reports
PL  - China (Republic : 1949- )
TA  - Taiwan J Obstet Gynecol
JT  - Taiwanese journal of obstetrics & gynecology
JID - 101213819
RN  - Chromosome 20, trisomy
SB  - IM
MH  - Adult
MH  - *Amniocentesis
MH  - Chromosomes, Human, Pair 20/genetics
MH  - Comparative Genomic Hybridization
MH  - Cytogenetic Analysis
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant, Newborn
MH  - Karyotype
MH  - Karyotyping
MH  - Live Birth
MH  - Mosaicism/embryology
MH  - Pregnancy
MH  - Trisomy/*diagnosis/genetics
OTO - NOTNLM
OT  - Amniocentesis
OT  - Mosaic trisomy 20
OT  - Mosaicism
OT  - Trisomy 20
COIS- Declaration of Competing Interest The authors have no conflicts of interest 
      relevant to this article.
EDAT- 2020/03/05 06:00
MHDA- 2020/12/15 06:00
CRDT- 2020/03/05 06:00
PHST- 2019/10/16 00:00 [accepted]
PHST- 2020/03/05 06:00 [entrez]
PHST- 2020/03/05 06:00 [pubmed]
PHST- 2020/12/15 06:00 [medline]
AID - S1028-4559(20)30026-7 [pii]
AID - 10.1016/j.tjog.2020.01.026 [doi]
PST - ppublish
SO  - Taiwan J Obstet Gynecol. 2020 Mar;59(2):327-330. doi: 10.1016/j.tjog.2020.01.026.