PMID- 32917326
OWN - NLM
STAT- MEDLINE
DCOM- 20210630
LR  - 20210630
IS  - 1875-6263 (Electronic)
IS  - 1028-4559 (Linking)
VI  - 59
IP  - 5
DP  - 2020 Sep
TI  - Cytogenetic discrepancy between uncultured amniocytes and cultured amniocytes in 
      mosaic trisomy 15 at amniocentesis.
PG  - 728-735
LID - S1028-4559(20)30172-8 [pii]
LID - 10.1016/j.tjog.2020.07.018 [doi]
AB  - OBJECTIVE: We present mosaic trisomy 15 at amniocentesis. MATERIALS AND METHODS: 
      A 41-year-old woman underwent amniocentesis at 16 weeks of gestation because of 
      an abnormal non-invasive prenatal testing (NIPT) result suspicious of trisomy 15. 
      Amniocentesis revealed a karyotype of 46,XY. Array comparative genomic 
      hybridization (aCGH) on uncultured amniocytes revealed 26% mosaicism for trisomy 
      15. She was referred for repeat amniocentesis. aCGH, interphase fluorescence in 
      situ hybridization (FISH), quantitative fluorescent polymerase chain reaction 
      (QF-PCR) assays and/or conventional cytogenetic analysis were applied on various 
      cells and tissues including uncultured amniocytes, cultured amniocytes, cord 
      blood, placenta, parental bloods and/or buccal mucosal cells. RESULTS: Repeat 
      amniocentesis at 21 weeks of gestation revealed a karyotype of 46, XY in cultured 
      amniocytes, and 30% mosaicism for trisomy 15 by aCGH and 32% mosaicism for 
      trisomy 15 by FISH in uncultured amniocytes. Repeat amniocentesis at 29 weeks of 
      gestation revealed a karyotype of 46, XY in cultured amniocytes, and 15% 
      mosaicism for trisomy 15 by aCGH and 7.2% mosaicism for trisomy 15 by FISH in 
      uncultured amniocytes. QF-PCR on cultured amniocytes excluded uniparental disomy 
      (UPD) 15. A phenotypically normal baby was delivered subsequently with a 
      karyotype of 46, XY in cord blood and 2% mosaicism for trisomy 15 by FISH in 
      buccal mucosal cells. The aCGH analysis revealed trisomy 15 in placenta and no 
      genomic imbalance in cord blood. QF-PCR assays determined a maternal origin of 
      trisomy 15 in placenta. CONCLUSION: Cytogenetic discrepancy may occur between 
      uncultured and cultured amniocytes in mosaic trisomy 15 at amniocentesis. The 
      cells of trisomy 15 cell line in prenatally detected mosaic trisomy 15 may 
      decrease in number as the fetus grows. Whenever NIPT suspects trisomy 15, a 
      confirmatory amniocentesis should include genetic analysis on both uncultured and 
      cultured amniocytes to exclude mosaic trisomy 15 and maternal UPD 15, especially 
      when the cultured amniocytes have a normal karyotype.
CI  - Copyright (c) 2020. 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 University, Taipei, Taiwan; Department of Obstetrics and 
      Gynecology, School of Medicine, National Yang-Ming University, Taipei, Taiwan. 
      Electronic address: cpc_mmh@yahoo.com.
FAU - Hsu, Te-Yao
AU  - Hsu TY
AD  - Department of Obstetrics and Gynecology, Kaohsiung Chang Gung Memorial Hospital, 
      Chang Gung University College of Medicine, Kaohsiung, Taiwan.
FAU - Ko, Tsang-Ming
AU  - Ko TM
AD  - Genephile Bioscience Laboratory, Ko's Obstetrics and Gynecology, 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 - 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, Yun-Yi
AU  - Chen YY
AD  - Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan.
FAU - Lee, Chen-Chi
AU  - Lee CC
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 - 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 15, trisomy mosaicism
SB  - IM
MH  - Abnormal Karyotype
MH  - Adult
MH  - Amniocentesis/*methods
MH  - Cesarean Section
MH  - Chromosomes, Human, Pair 15/genetics
MH  - Comparative Genomic Hybridization
MH  - *Cytogenetic Analysis
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant, Newborn
MH  - Male
MH  - Mosaicism
MH  - Noninvasive Prenatal Testing
MH  - Pregnancy
MH  - Trisomy/diagnosis/*genetics
MH  - Uniparental Disomy/diagnosis/*genetics
OTO - NOTNLM
OT  - Amniocentesis
OT  - Mosaic trisomy 15
OT  - Mosaicism
OT  - Trisomy 15
COIS- Declaration of competing interest The authors declare no conflict of interest.
EDAT- 2020/09/13 06:00
MHDA- 2021/07/01 06:00
CRDT- 2020/09/12 05:25
PHST- 2020/07/03 00:00 [accepted]
PHST- 2020/09/12 05:25 [entrez]
PHST- 2020/09/13 06:00 [pubmed]
PHST- 2021/07/01 06:00 [medline]
AID - S1028-4559(20)30172-8 [pii]
AID - 10.1016/j.tjog.2020.07.018 [doi]
PST - ppublish
SO  - Taiwan J Obstet Gynecol. 2020 Sep;59(5):728-735. doi: 10.1016/j.tjog.2020.07.018.