PMID- 38008514
OWN - NLM
STAT- MEDLINE
DCOM- 20231128
LR  - 20231128
IS  - 1875-6263 (Electronic)
IS  - 1028-4559 (Linking)
VI  - 62
IP  - 6
DP  - 2023 Nov
TI  - Low-level mosaic trisomy 21 at amniocentesis in a pregnancy associated with 
      cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes, 
      perinatal progressive decrease of the aneuploid cell line and a favorable fetal 
      outcome.
PG  - 910-914
LID - S1028-4559(23)00252-8 [pii]
LID - 10.1016/j.tjog.2023.09.006 [doi]
AB  - OBJECTIVE: We present low-level mosaic trisomy 21 at amniocentesis in a pregnancy 
      with a favorable fetal outcome. CASE REPORT: A 34-year-old, primigravid woman 
      underwent amniocentesis at 17 weeks of gestation because of advanced maternal 
      age. Amniocentesis revealed a karyotype of 47,XY,+21 [7]/46,XY [33]. At 23 weeks 
      of gestation, repeat amniocentesis revealed a karyotype of 47,XY,+21 [4]/46,XY 
      [22], and cord blood sampling revealed the karyotype of 47,XY,+21 [5]/46,XY [35]. 
      The parental karyotypes were normal. Quantitative fluorescent polymerase chain 
      reaction (QF-PCR) analysis on uncultured amniocytes and parental bloods excluded 
      UPD 21, array comparative genomic hybridization (aCGH) analysis on uncultured 
      amniocytes revealed the result of arr 21q11.2q22.3 x 2.3, consistent with 30% 
      mosaicism for trisomy 21. Interphase fluorescence in situ hybridization (FISH) 
      analysis on uncultured amniocytes revealed 43.8% (35/80 cells) mosaicism for 
      trisomy 21. The woman was advised to continue the pregnancy, and a phenotypically 
      normal 3,340-g male baby was delivered at 39 weeks of gestation. The cord blood 
      had a karyotypes of 46,XY (40/40 cells). QF-PCR on placenta showed mosaic trisomy 
      21. When follow-up at age three months, the neonate was normal in phenotype and 
      development. FISH analysis on buccal mucosal cells showed 9% (10/101 cells) 
      mosaicism for trisomy 21, compared with 0% (0/100 cells) in the normal control. 
      CONCLUSION: Low-level mosaic trisomy 21 at amniocentesis can be associated with 
      cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes, 
      perinatal progressive decrease of the aneuploid cell line and a favorable fetal 
      outcome.
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 - 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 - Wu, Peih-Shan
AU  - Wu PS
AD  - Gene Biodesign Co. Ltd, 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.
LA  - eng
PT  - Case Reports
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  - Infant, Newborn
MH  - Female
MH  - Male
MH  - Humans
MH  - Infant
MH  - Adult
MH  - *Amniocentesis
MH  - *Down Syndrome/diagnosis/genetics
MH  - Mosaicism
MH  - Comparative Genomic Hybridization
MH  - In Situ Hybridization, Fluorescence
MH  - Trisomy/diagnosis/genetics
MH  - Karyotyping
MH  - Karyotype
MH  - Cytogenetic Analysis
OTO - NOTNLM
OT  - Amniocentesis
OT  - Cytogenetic discrepancy
OT  - Mosaic trisomy 21
EDAT- 2023/11/27 00:43
MHDA- 2023/11/28 06:42
CRDT- 2023/11/26 20:57
PHST- 2023/09/12 00:00 [accepted]
PHST- 2023/11/28 06:42 [medline]
PHST- 2023/11/27 00:43 [pubmed]
PHST- 2023/11/26 20:57 [entrez]
AID - S1028-4559(23)00252-8 [pii]
AID - 10.1016/j.tjog.2023.09.006 [doi]
PST - ppublish
SO  - Taiwan J Obstet Gynecol. 2023 Nov;62(6):910-914. doi: 10.1016/j.tjog.2023.09.006.