PMID- 36720526
OWN - NLM
STAT- MEDLINE
DCOM- 20230202
LR  - 20230202
IS  - 1875-6263 (Electronic)
IS  - 1028-4559 (Linking)
VI  - 62
IP  - 1
DP  - 2023 Jan
TI  - Mosaic trisomy 21 at amniocentesis associated with a favorable fetal outcome and 
      perinatal progressive decrease of the trisomy 21 cell line.
PG  - 132-136
LID - S1028-4559(22)00354-0 [pii]
LID - 10.1016/j.tjog.2022.01.011 [doi]
AB  - OBJECTIVE: We present mosaic trisomy 21 at amniocentesis associated with a 
      favorable fetal outcome and perinatal progressive decrease of the trisomy 21 cell 
      line. CASE REPORT: A 33-year-old woman underwent elective amniocentesis at 17 
      weeks of gestation because of anxiety, and the karyotype of cultured amniocytes 
      was 47,XX,+21[4]/46,XX[13]. In 17 colonies of cultured amniocytes, four colonies 
      had 47,XX,+21, while the other 13 colonies had 46,XX. Simultaneous array 
      comparative genomic hybridization (aCGH) analysis on uncultured amniocytes 
      revealed the result of arr (21) x 3 [0.32] consistent with 32% mosaicism for 
      trisomy 21. Repeat amniocentesis performed at 25 weeks of gestation revealed 
      47,XX,+21[4]/46,XX[24] with four colonies of 47,XX,+21 and 24 colonies of 46, XX 
      on cultured amniocytes, and arr 21q11.2q22.3 x 2.25 by aCGH, 19.2% mosaicism for 
      trisomy 21 (20/104 cells) by interphase fluorescence in situ hybridization 
      (FISH), and no uniparental disomy (UPD) 21 by quantitative fluorescence 
      polymerase chain reaction (QF-PCR) on uncultured amniocytes. The parental 
      karyotypes were normal, and prenatal ultrasound was unremarkable. A 
      phenotypically normal 2815-g female baby was delivered at 38 weeks of gestation. 
      Cytogenetic analysis on the cord blood, umbilical cord and placenta revealed the 
      karyotype of 47,XX,+21[10]/46,XX[30]. 47,XX,+21[5]/46,XX[35] and 
      47,XX,+21[38]/46,XX[2], respectively. QF-PCR analysis on the DNA extracted from 
      parental bloods, uncultured amniocytes, cord blood, umbilical cord and placenta 
      confirmed a paternal origin of trisomy 21. When follow-up at age two months, the 
      neonate was phenotypically normal, the peripheral blood had a karyotype of 
      47,XX,+21[6]/46,XX[34], and no trisomy 21 signals by interphase FISH was found on 
      100 buccal mucosal cells. When follow-up at age 13 months, the neonate was 
      phenotypically normal, and the peripheral blood had a karyotype of 
      47,XX,+21[3]/46,XX[37]. CONCLUSION: Mosaic trisomy 21 at amniocentesis can be a 
      transient and benign condition, and the abnormal trisomy 21 cell line may 
      decrease and disappear after birth.
CI  - Copyright (c) 2023. 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; 
      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 and Health Science, Asia University, Taichung, 
      Taiwan. Electronic address: cpc_mmh@yahoo.com.
FAU - Chen, Shin-Wen
AU  - Chen SW
AD  - Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, 
      Taiwan.
FAU - Wang, Liang-Kai
AU  - Wang LK
AD  - Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, 
      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 - Wu, Fang-Tzu
AU  - Wu FT
AD  - Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, 
      Taiwan.
FAU - Pan, Yen-Ting
AU  - Pan YT
AD  - Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, 
      Taiwan.
FAU - Lee, Chen-Chi
AU  - Lee CC
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 - Pan, Chen-Wen
AU  - Pan CW
AD  - Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, 
      Taiwan.
FAU - Chen, Yun-Yi
AU  - Chen YY
AD  - Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.
FAU - Wang, Wayseen
AU  - Wang W
AD  - Department of Medical Research, MacKay Memorial Hospital, 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
RN  - Chromosome 21, uniparental disomy of
SB  - IM
MH  - Pregnancy
MH  - Female
MH  - Humans
MH  - *Amniocentesis
MH  - *Down Syndrome/genetics
MH  - Mosaicism
MH  - In Situ Hybridization, Fluorescence
MH  - Comparative Genomic Hybridization
MH  - Cell Line
OTO - NOTNLM
OT  - Amniocentesis
OT  - Fetal outcome
OT  - Mosaic trisomy 21
OT  - Prenatal diagnosis
COIS- Conflict of interest The authors have no conflicts of interest relevant to this 
      article.
EDAT- 2023/02/01 06:00
MHDA- 2023/02/03 06:00
CRDT- 2023/01/31 20:54
PHST- 2022/01/07 00:00 [accepted]
PHST- 2023/01/31 20:54 [entrez]
PHST- 2023/02/01 06:00 [pubmed]
PHST- 2023/02/03 06:00 [medline]
AID - S1028-4559(22)00354-0 [pii]
AID - 10.1016/j.tjog.2022.01.011 [doi]
PST - ppublish
SO  - Taiwan J Obstet Gynecol. 2023 Jan;62(1):132-136. doi: 10.1016/j.tjog.2022.01.011.