PMID- 27590391
OWN - NLM
STAT- MEDLINE
DCOM- 20170426
LR  - 20170426
IS  - 1875-6263 (Electronic)
IS  - 1028-4559 (Linking)
VI  - 55
IP  - 4
DP  - 2016 Aug
TI  - Rapid diagnosis of pseudomosaicism in a case of Level II mosaicism for trisomy 5 
      in a single colony from an in situ culture of amniocytes and a review of mosaic 
      trisomy 5 at amniocentesis.
PG  - 602-3
LID - S1028-4559(16)30081-X [pii]
LID - 10.1016/j.tjog.2016.05.005 [doi]
AB  - OBJECTIVE: We present prenatal diagnosis of pseudomosaicism for trisomy 5 and a 
      review of the literature of mosaic trisomy 5 at amniocentesis. CASE REPORT: A 
      39-year-old woman underwent amniocentesis at 17 weeks of gestation, which 
      revealed a karyotype of 47,XY,+5[1]/46,XY[20]. The single colony with trisomy 5 
      had five metaphase cells, and all five cells had the karyotype of 47,XY,+5. 
      Repeat amniocentesis performed at 20 weeks of gestation revealed a karyotype of 
      46,XY in 27/27 colonies. Simultaneously, interphase fluorescence in situ 
      hybridization (FISH), array comparative genomic hybridization (aCGH), and 
      quantitative fluorescent polymerase chain reaction (QF-PCR) were performed on 
      uncultured amniocytes. Interphase FISH revealed no trisomy 5 in 100 uncultured 
      amniocytes. aCGH revealed no genomic imbalance. QF-PCR excluded uniparental 
      disomy 5. A healthy 3662-g male baby was delivered with a normal karyotype in 
      cord blood and 3.75% (3/80 cells) of trisomy 5 cells in uncultured urinary cells 
      compared with 0.95% (1/105 cells) of trisomy 5 cells in normal control examined 
      by FISH at 1.5 months of age. A review of seven cases with mosaic trisomy 5 at 
      amniocentesis shows that 4/7 had clinically normal outcome, 3/7 had structural 
      defects, mainly the heart, 6/6 had normal karyotype in blood, and 2/3 had mosaic 
      trisomy 5 in the fetal tissues. CONCLUSION: Prenatal diagnosis of mosaic trisomy 
      5 should alert the possibility of fetal structural abnormalities, especially the 
      heart, and culture artifacts. We suggest that the application of molecular 
      cytogenetic techniques such as aCGH, interphase FISH, and QF-PCR on uncultured 
      amniocytes is useful in our understanding of the mosaic status at repeat 
      amniocentesis.
CI  - Copyright (c) 2016. 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 - Chang, Shing-Jyh
AU  - Chang SJ
AD  - Department of Obstetrics and Gynecology, Hsinchu MacKay Memorial Hospital, 
      Hsinchu, Taiwan; Department of Molecular Cellular Biology, National Tsing Hua 
      University, Hsinchu, 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, Yen-Ni
AU  - Chen YN
AD  - Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, 
      Taiwan.
FAU - Chen, Shin-Wen
AU  - Chen SW
AD  - Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, 
      Taiwan.
FAU - Yang, Chien-Wen
AU  - Yang CW
AD  - Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.
FAU - Pan, Chen-Wen
AU  - Pan CW
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
PT  - Journal Article
PL  - China (Republic : 1949- )
TA  - Taiwan J Obstet Gynecol
JT  - Taiwanese journal of obstetrics & gynecology
JID - 101213819
SB  - IM
MH  - Adult
MH  - Amniocentesis/*methods
MH  - Chromosomes, Human, Pair 5/*genetics
MH  - Comparative Genomic Hybridization/methods
MH  - Cytogenetic Analysis/methods
MH  - Female
MH  - Fetal Blood
MH  - Fetal Diseases/*diagnosis/genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/methods
MH  - Infant
MH  - Karyotype
MH  - Karyotyping/methods
MH  - Live Birth/genetics
MH  - Male
MH  - Mosaicism/*embryology
MH  - Pregnancy
OTO - NOTNLM
OT  - amniocentesis
OT  - mosaic trisomy 5
OT  - prenatal diagnosis
OT  - pseudomosaicism
OT  - uncultured amniocytes
EDAT- 2016/09/04 06:00
MHDA- 2017/04/27 06:00
CRDT- 2016/09/04 06:00
PHST- 2016/05/19 00:00 [accepted]
PHST- 2016/09/04 06:00 [entrez]
PHST- 2016/09/04 06:00 [pubmed]
PHST- 2017/04/27 06:00 [medline]
AID - S1028-4559(16)30081-X [pii]
AID - 10.1016/j.tjog.2016.05.005 [doi]
PST - ppublish
SO  - Taiwan J Obstet Gynecol. 2016 Aug;55(4):602-3. doi: 10.1016/j.tjog.2016.05.005.