PMID- 38008510
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 in various tissues, perinatal progressive decrease of the 
      trisomy 21 cell line and a favorable fetal outcome.
PG  - 891-895
LID - S1028-4559(23)00248-6 [pii]
LID - 10.1016/j.tjog.2023.09.002 [doi]
AB  - OBJECTIVE: We present low-level mosaic trisomy 21 at amniocentesis in a pregnancy 
      associated with cytogenetic discrepancy in various tissues, perinatal progressive 
      decrease of the trisomy 21 cell line and a favorable fetal outcome. CASE REPORT: 
      A 36-year-old, gravida 2, para 1, woman underwent amniocentesis at 18 weeks of 
      gestation because of advanced maternal age, and the result was 47,XY,+21 
      [8]/46,XY [26]. Prenatal ultrasound findings were unremarkable. She was referred 
      for genetic counseling, and repeat amniocentesis performed at 23 weeks of 
      gestation revealed the result of 47,XY,+21 [3]/46,XY [21]. The parental 
      karyotypes were normal. At repeat amniocentesis, quantitative fluorescent 
      polymerase chain reaction (QF-PCR) analysis using the DNA extracted from 
      uncultured amniocytes and parental bloods excluded uniparental disomy (UPD) 21, 
      array comparative genomic hybridization (aCGH) analysis on uncultured amniocytes 
      revealed the result of arr 21q11.2q22.3 x 2.4, consistent with 40% mosaicism for 
      trisomy 21, and fluorescence in situ hybridization (FISH) analysis on uncultured 
      amniocytes revealed 67% (67/100 cells) mosaicism for trisomy 21. The woman was 
      advised to continue the pregnancy, and a 1370-g male baby was delivered 
      prematurely at 29 weeks of gestation without phenotypic abnormalities. The 
      karyotypes of umbilical cord and placenta were 47,XY,+21 [13]/46,XY [27] and 
      47,XY,+21 [40], respectively. QF-PCR determined maternal origin of the extra 
      chromosome 21 of trisomy 21 in the placenta. When follow-up at age 8(1/2) months, the 
      neonate was normal in appearance and development. The peripheral blood had a 
      karyotype of 47,XY,+21 [1]/46,XY [39], and FISH analysis on buccal mucosal cells 
      showed 9.7% (11/113 cells) mosaicism for trisomy 21, compared with 2% 
      (2/100 cells) in the normal control. CONCLUSION: Low-level mosaic trisomy 21 at 
      amniocentesis can be associated with cytogenetic discrepancy in various tissues, 
      perinatal progressive decrease of the trisomy 21 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 - Chen, Wen-Lin
AU  - Chen WL
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 - 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  - Child
MH  - Adult
MH  - *Amniocentesis
MH  - *Down Syndrome/diagnosis/genetics
MH  - Mosaicism
MH  - Chromosomes, Human, Pair 21/genetics
MH  - Comparative Genomic Hybridization
MH  - In Situ Hybridization, Fluorescence
MH  - Trisomy
MH  - Karyotyping
MH  - Cell Line
MH  - Cytogenetic Analysis
OTO - NOTNLM
OT  - Amniocentesis
OT  - Cytogenetic discrepancy
OT  - Mosaic trisomy 21
COIS- Declaration of competing interest The authors have no conflicts of interest 
      relevant to this article.
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)00248-6 [pii]
AID - 10.1016/j.tjog.2023.09.002 [doi]
PST - ppublish
SO  - Taiwan J Obstet Gynecol. 2023 Nov;62(6):891-895. doi: 10.1016/j.tjog.2023.09.002.