PMID- 35779921
OWN - NLM
STAT- MEDLINE
DCOM- 20220706
LR  - 20220706
IS  - 1875-6263 (Electronic)
IS  - 1028-4559 (Linking)
VI  - 61
IP  - 4
DP  - 2022 Jul
TI  - Cytogenetic discrepancy between uncultured amniocytes and cultured amniocytes in 
      mosaic trisomy 15 at amniocentesis in a pregnancy with a favorable outcome.
PG  - 677-683
LID - S1028-4559(22)00155-3 [pii]
LID - 10.1016/j.tjog.2022.05.004 [doi]
AB  - OBJECTIVE: We present prenatal diagnosis of mosaic trisomy 15 in a pregnancy with 
      a favorable outcome. CASE REPORT: A 33-year-old, primigravid woman underwent 
      amniocentesis at 19 weeks of gestation because non-invasive prenatal testing 
      (NIPT) revealed gene dosage increase at chromosome 15. Cytogenetic analysis 
      revealed a karyotype of 47,XX,+15[10]/46,XX[13]. Using uncultured amniocytes, 
      array comparative genomic hybridization (aCGH) revealed arr [GRCh37] (X) x 2, 
      (15) x 3 [0.75], multiplex ligation-dependent probe amplification (MLPA) analysis 
      showed rsa [GRCh36] 15q11q13 (21,362,818-27,196,819) x 3 [0.76] and 
      methylation-specific (MS)-MLPA analysis showed a methylation index = 0.41 with 
      paternal gene dosage increase at 15q11-q13. Repeat amniocentesis at 25 weeks of 
      gestation revealed a karyotype of 47,XX,+15[6]/46,XX[14]. Using uncultured 
      amniocytes, quantitative fluorescent polymerase chain reaction (QF-PCR) assays 
      excluded uniparental disomy (UPD) 15 and determined a paternal origin of the 
      extra chromosome 15, aCGH analysis showed 75%-80% mosaicism for trisomy 15, and 
      interphase fluorescence in situ hybridization (FISH) showed 45.5% (46/101 cells) 
      mosaicism for trisomy 15. Repeat amniocentesis at 28 weeks of gestation revealed 
      a karyotype of 47,XX,+15[2]/46,XX[23]. Using uncultured amniocytes, aCGH showed 
      75-80% mosaicism for trisomy 15, and FISH showed 70.6% (72/102 cells) mosaicism 
      for trisomy 15. Using cultured amniocytes, QF-PCR assays excluded UPD 15. 
      Cordocentesis at 30 weeks of gestation revealed a karyotype of 
      47,XX,+15[2]/46,XX[138]. Using cord blood, aCGH revealed 9% gene dosage increase 
      at chromosome 15, and MS-MLPA analysis excluded UPD 15. At 36 weeks of gestation, 
      a 2060-g phenotypically normal baby was delivered. The cord blood had 46, XX 
      (40/40 cells). The placenta had 47,XX,+15 (40/40 cells). QF-PCR analysis on 
      placenta showed a paternal origin of trisomy 15. FISH analysis on buccal mucosal 
      cells at age 20 days showed 20% (20/100 cells) mosaicism for trisomy 15. 
      CONCLUSION: Cytogenetic discrepancy may occur between uncultured and cultured 
      amniocytes in mosaic trisomy 15 at amniocentesis. Cultured amniocytes may present 
      progressive decrease in the levels of mosaicism for trisomy 15 as the fetus 
      grows. Mosaic trisomy 15 at amniocentesis without UPD 15 can be associated with a 
      favorable outcome.
CI  - Copyright (c) 2022. 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. Electronic address: cpc_mmh@yahoo.com.
FAU - Ko, Tsang-Ming
AU  - Ko TM
AD  - Genephile Bioscience Laboratory, Ko's Obstetrics and Gynecology, Taipei, Taiwan.
FAU - Chen, Tze-Chien
AU  - Chen TC
AD  - Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, 
      Taiwan; Department of Medicine, MacKay Medical College, New Taipei City, 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, Wen-Lin
AU  - Chen WL
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
PL  - China (Republic : 1949- )
TA  - Taiwan J Obstet Gynecol
JT  - Taiwanese journal of obstetrics & gynecology
JID - 101213819
SB  - IM
MH  - *Amniocentesis
MH  - Chromosomes, Human, Pair 15/genetics
MH  - Comparative Genomic Hybridization
MH  - Cytogenetic Analysis
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Pregnancy
MH  - *Trisomy/diagnosis/genetics
MH  - Uniparental Disomy/diagnosis/genetics
OTO - NOTNLM
OT  - Amniocentesis
OT  - Cultured amniocytes
OT  - Cytogenetic discrepancy
OT  - Mosaic trisomy 15
OT  - Uncultured amniocytes
COIS- Declaration of competing interest The author has no conflicts of interest 
      relevant to this article.
EDAT- 2022/07/03 06:00
MHDA- 2022/07/07 06:00
CRDT- 2022/07/02 21:04
PHST- 2022/05/12 00:00 [accepted]
PHST- 2022/07/02 21:04 [entrez]
PHST- 2022/07/03 06:00 [pubmed]
PHST- 2022/07/07 06:00 [medline]
AID - S1028-4559(22)00155-3 [pii]
AID - 10.1016/j.tjog.2022.05.004 [doi]
PST - ppublish
SO  - Taiwan J Obstet Gynecol. 2022 Jul;61(4):677-683. doi: 10.1016/j.tjog.2022.05.004.