PMID- 33966744
OWN - NLM
STAT- MEDLINE
DCOM- 20211020
LR  - 20211020
IS  - 1875-6263 (Electronic)
IS  - 1028-4559 (Linking)
VI  - 60
IP  - 3
DP  - 2021 May
TI  - Prenatal diagnosis of trisomy 11 in a single colony of cultured amniocytes at 
      amniocentesis in a pregnancy with a favorable outcome.
PG  - 540-542
LID - S1028-4559(21)00079-6 [pii]
LID - 10.1016/j.tjog.2021.03.028 [doi]
AB  - OBJECTIVE: We present prenatal diagnosis of trisomy 11 in a single colony of 
      cultured amniocytes at amniocentesis and the perinatal outcome. CASE REPORT: A 
      36-year-old, gravida 2, para 1, woman underwent amniocentesis at 17 weeks of 
      gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 
      47,XX,+11[1]/46,XX[16]. In 17 colonies of cultured amniocytes, all five cells in 
      one colony had a karyotype of 47,XX,+11, while the rest 16 colonies had a normal 
      karyotype. The parental karyotypes were normal. Repeat amniocentesis was 
      performed at 21 weeks of gestation. Interphase fluorescence in situ hybridization 
      (FISH) was applied on the uncultured amniocytes, and the result revealed 0.9% 
      mosaicism (1/101 cells) for trisomy 11 with only one cell with three signals, 
      while the other 100 cells had two signals, compared with no trisomy 11 signals 
      (0/100 cells) in the normal control. Uniparental disomy (UPD) 11 was excluded by 
      polymorphic DNA marker analysis on the DNAs extracted from uncultured amniocytes 
      and parental bloods. The cultured amniocytes at repeat amniocentesis revealed a 
      karyotype of 46, XX in 28/28 colonies. Prenatal ultrasound findings were 
      unremarkable. The pregnancy was continued to 38 weeks of gestation, and a 2724-g 
      healthy female baby was delivered. The cord blood had a karyotype of 46,XX. The 
      interphase FISH analysis on buccal mucosal cells revealed no trisomy 11 signals 
      (0/100 cells). When follow-up at three months of age, the neonate manifested 
      normal psychomotor and physical development. CONCLUSION: Prenatal diagnosis of 
      mosaic trisomy 11 in a single colony at amniocentesis without abnormal fetal 
      ultrasound and UPD 11 can be associated with a favorable outcome.
CI  - Copyright (c) 2021. 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 Biotechnology, Asia University, 
      Taichung, Taiwan. Electronic address: cpc_mmh@yahoo.com.
FAU - Hsieh, Cheng-En
AU  - Hsieh CE
AD  - Department of Obstetrics and Gynecology, Hsinchu MacKay Memorial Hospital, 
      Hsinchu, Taiwan.
FAU - Chern, Schu-Rern
AU  - Chern SR
AD  - Department of Medical Research, MacKay Memorial Hospital, 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 - Town, Dai-Dyi
AU  - Town DD
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
SB  - IM
MH  - Adult
MH  - *Amniocentesis
MH  - Chromosomes, Human, Pair 11/*genetics
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant, Newborn
MH  - Karyotype
MH  - Karyotyping
MH  - Live Birth/*genetics
MH  - Mosaicism
MH  - Pregnancy
MH  - Trisomy/*diagnosis/genetics
OTO - NOTNLM
OT  - Amniocentesis
OT  - Mosaic trisomy 11
OT  - Prenatal diagnosis
OT  - Single colony
COIS- Declaration of competing interest The authors have no conflicts of interest 
      relevant to this article.
EDAT- 2021/05/11 06:00
MHDA- 2021/10/21 06:00
CRDT- 2021/05/10 06:02
PHST- 2021/02/09 00:00 [accepted]
PHST- 2021/05/10 06:02 [entrez]
PHST- 2021/05/11 06:00 [pubmed]
PHST- 2021/10/21 06:00 [medline]
AID - S1028-4559(21)00079-6 [pii]
AID - 10.1016/j.tjog.2021.03.028 [doi]
PST - ppublish
SO  - Taiwan J Obstet Gynecol. 2021 May;60(3):540-542. doi: 10.1016/j.tjog.2021.03.028.