PMID- 35779925
OWN - NLM
STAT- MEDLINE
DCOM- 20220706
LR  - 20220706
IS  - 1875-6263 (Electronic)
IS  - 1028-4559 (Linking)
VI  - 61
IP  - 4
DP  - 2022 Jul
TI  - High-level mosaicism for 45,X in 45,X/46,XX at amniocentesis in a pregnancy with 
      a favorable outcome and postnatal progressive decrease of the 45,X cell line.
PG  - 700-702
LID - S1028-4559(22)00159-0 [pii]
LID - 10.1016/j.tjog.2022.05.008 [doi]
AB  - OBJECTIVE: We present prenatal diagnosis of high-level mosaicism for 45,X in 
      45,X/46,XX at amniocentesis in a pregnancy with a favorable outcome and postnatal 
      progressive decrease of the 45,X cell line. CASE REPORT: A 32-year-old, gravida 
      2, para 1, woman underwent amniocentesis at 17 weeks of gestation because of the 
      abnormal first-trimester maternal serum screening result indicating a 1/34 risk 
      for Down syndrome. Amniocentesis revealed a karyotype of 45,X[27]/46,XX[15]. 
      Simultaneous array comparative genomic hybridization (aCGH) on uncultured 
      amniocytes revealed 12% mosaicism for monosomy X. Prenatal ultrasound was normal. 
      The pregnancy was carried to term, and a 2780-g phenotypically normal female baby 
      was delivered. The cord blood had a karyotype of 45,X[12]/46,XX[28]. At age one 
      month, the peripheral blood had a karyotype of 45,X[13]/46,XX[27]. Interphase 
      fluorescence in situ hybridization (FISH) analysis on the buccal mucosal cells 
      revealed 2% (2/102 cells) mosaicism for monosomy X, compared with 1% 
      (1/100 cells) in the normal control. When follow-up at age one year, she was 
      doing well with normal physical and psychomotor development. Her body weight was 
      9.9 Kg (50th - 85th centile), and her body height was 75 cm (50th - 85th 
      centile). The peripheral blood had a karyotype of 45,X[4]/46,XY[36]. CONCLUSION: 
      High-level mosaicism for 45,X in 45,X/46,XX at amniocentesis can be associated 
      with a favorable outcome and postnatal progressive decrease of the 45,X cell 
      line.
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 - 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 - Lee, Chen-Chi
AU  - Lee CC
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  - Cell Line
MH  - Comparative Genomic Hybridization
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Mosaicism
MH  - Pregnancy
MH  - *Turner Syndrome
OTO - NOTNLM
OT  - 45,X mosaicism
OT  - 45,X/46,XX
OT  - Amniocentesis
OT  - Mosaic turner syndrome
COIS- Declaration of competing interest The authors have 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)00159-0 [pii]
AID - 10.1016/j.tjog.2022.05.008 [doi]
PST - ppublish
SO  - Taiwan J Obstet Gynecol. 2022 Jul;61(4):700-702. doi: 10.1016/j.tjog.2022.05.008.