PMID- 36965907
OWN - NLM
STAT- MEDLINE
DCOM- 20230405
LR  - 20230405
IS  - 1875-6263 (Electronic)
IS  - 1028-4559 (Linking)
VI  - 62
IP  - 2
DP  - 2023 Mar
TI  - Mosaic 45,X/46, XX at amniocentesis with high-level mosaicism for 45,X in a 
      pregnancy with a favorable fetal outcome and postnatal decrease of the 45,X cell 
      line.
PG  - 348-350
LID - S1028-4559(23)00036-0 [pii]
LID - 10.1016/j.tjog.2022.12.004 [doi]
AB  - OBJECTIVE: We present mosaic 45,X/46, XX at amniocentesis with high-level 
      mosaicism for 45,X in a pregnancy with a favorable fetal outcome and postnatal 
      decrease of the 45,X cell line. CASE REPORT: A 20-year-old, primigravid woman 
      underwent amniocentesis at 17 weeks of gestation because of the non-invasive 
      prenatal testing (NIPT) result of -4.82 Z score in sex chromosome at 12 weeks of 
      gestation suggestive of Turner syndrome in the fetus. Amniocentesis revealed a 
      karyotype of 45,X [18]/46,XX [15], and simultaneous multiplex ligation-dependent 
      probe amplification (MLPA) on the DNA extracted from uncultured amniocytes showed 
      mosaic Turner syndrome. Prenatal ultrasound and parental karyotypes were normal. 
      She was referred for genetic counseling at 24 weeks of gestation, and continuing 
      pregnancy was encouraged. At 39 weeks of gestation, a 2550-g phenotypically 
      normal female baby was delivered. The karyotypes of cord blood, umbilical cord 
      and placenta were 45,X [24]/46,XX [16], 45,X [23]/46,XX [17] and 45,X 
      [28]/46,X,del(X) (q23)[12], respectively. When follow-up at age two months, the 
      neonate was phenotypically normal in development. The peripheral blood had a 
      karyotypes of 45,X [16]/46,XX [24]. Interphase fluorescence in situ hybridization 
      (FISH) analysis on 103 buccal mucosal cells showed normal disomy X signals in all 
      cells. CONCLUSION: High-level mosaicism for 45,X in 45,X/46, XX at amniocentesis 
      can be associated with a favorable fetal outcome, cytogenetic discrepancy in 
      various tissues, and postnatal decrease of the 45,X cell line.
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 & Health Science, Asia University, Taichung, 
      Taiwan. Electronic address: cpc_mmh@yahoo.com.
FAU - Chen, Shin-Wen
AU  - Chen SW
AD  - Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, 
      Taiwan.
FAU - Wang, Liang-Kai
AU  - Wang LK
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 - Pan, Yen-Ting
AU  - Pan YT
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 - Lee, Meng-Shan
AU  - Lee MS
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 - 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  - Humans
MH  - Female
MH  - Adult
MH  - *Amniocentesis
MH  - Ultrasonography, Prenatal
MH  - Mosaicism
MH  - Pregnancy
MH  - *Turner Syndrome/diagnosis/genetics
MH  - In Situ Hybridization, Fluorescence
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- 2023/03/26 06:00
MHDA- 2023/03/28 17:16
CRDT- 2023/03/25 22:08
PHST- 2022/12/14 00:00 [accepted]
PHST- 2023/03/28 17:16 [medline]
PHST- 2023/03/25 22:08 [entrez]
PHST- 2023/03/26 06:00 [pubmed]
AID - S1028-4559(23)00036-0 [pii]
AID - 10.1016/j.tjog.2022.12.004 [doi]
PST - ppublish
SO  - Taiwan J Obstet Gynecol. 2023 Mar;62(2):348-350. doi: 10.1016/j.tjog.2022.12.004.