PMID- 37679007
OWN - NLM
STAT- MEDLINE
DCOM- 20230911
LR  - 20230911
IS  - 1875-6263 (Electronic)
IS  - 1028-4559 (Linking)
VI  - 62
IP  - 5
DP  - 2023 Sep
TI  - High-level mosaicism for 45,X in 45,X/46,X,+mar at amniocentesis in a pregnancy 
      associated with positive non-invasive prenatal testing for Turner syndrome, 
      normal male external genitalia and positive SRY in the fetus, a favorable fetal 
      outcome, postnatal decrease of the 45,X cell line and cytogenetic discrepancy in 
      various tissues.
PG  - 749-753
LID - S1028-4559(23)00193-6 [pii]
LID - 10.1016/j.tjog.2023.07.020 [doi]
AB  - OBJECTIVE: We present high-level mosaicism for 45,X in 45,X/46,X,+mar at 
      amniocentesis in a pregnancy associated with positive non-invasive prenatal 
      testing (NIPT) for Turner syndrome, normal male external genitalia and positive 
      SRY in the fetus, a favorable fetal outcome, postnatal decrease of the 45,X cell 
      line and cytogenetic discrepancy in various tissues. CASE REPORT: A 35-year-old, 
      gravida 2, para 1, woman underwent amniocentesis at 16 weeks of gestation because 
      of positive NIPT for Turner syndrome (Z score = -11.72 for X chromosome) at 10 
      weeks of gestation. Amniocentesis revealed a karyotype of 45,X[13]/46,X,+mar[8]. 
      Simultaneous molecular analysis on the DNA extracted from uncultured amniocytes 
      revealed the results of arr (X) x 1, (Yp) x 0-1 (0.63), (Yq) x 0, (1-22) x 2 in 
      array comparative genomic hybridization (aCGH) and rsa(X) x 1, Yp11.31 x 0-1, 
      Yq11.21 x 0, (13, 18, 21) x 2 in multiplex ligation-dependent probe amplification 
      (MLPA). The parental karyotypes were normal. Prenatal ultrasound revealed normal 
      male external genitalia. She was referred for genetic counseling, and continuing 
      pregnancy was advised. A 2875-g male baby was delivered at 38 weeks of gestation 
      with normal male external genitalia. The karyotypes of cord blood, umbilical cord 
      and placenta were 46,X,+mar[27]/45,X[13], 46,X,+mar[24]/45,X[16] and 
      45,X[22]/46,X,+mar[18], respectively. SRY testing on cord blood revealed a 
      positive result. When follow-up at age two months, the neonate was normal in 
      development. The karyotype of peripheral blood was 
      46,X,+mar[25]/45,X[13]/46,X,idic r(Y) [2]. Interphase fluorescence in situ 
      hybridization (FISH) analysis on 103 buccal mucosal cells using Yp11.2-specific 
      probe RP11-119E4 and Xp22.31-specific probe RP11-143E20 showed that 90 cells 
      (90/103 = 87%) had double Yp signals, 3 cells (3/103 = 3%) had single Yp signal 
      and 10 cells (10/103 = 10%) had no Yp signal. CONCLUSION: High-level mosaicism 
      for 45,X in 45,X/46,X,+mar at amniocentesis with positive Yp and SRY can be 
      associated with a favorable fetal outcome, postnatal decrease of the 45,X cell 
      line and cytogenetic discrepancy in various tissues.
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 and Health Science, Asia University, Taichung, 
      Taiwan. Electronic address: cpc_mmh@yahoo.com.
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 - 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
PL  - China (Republic : 1949- )
TA  - Taiwan J Obstet Gynecol
JT  - Taiwanese journal of obstetrics & gynecology
JID - 101213819
SB  - IM
MH  - Male
MH  - Female
MH  - Pregnancy
MH  - Humans
MH  - *Mosaicism
MH  - *Turner Syndrome/diagnosis/genetics
MH  - Comparative Genomic Hybridization
MH  - Amniocentesis
MH  - In Situ Hybridization, Fluorescence
MH  - Fetus
MH  - Karyotyping
MH  - Cell Line
MH  - Genitalia
OTO - NOTNLM
OT  - 45,X/46,X,+mar
OT  - 45,X/46,X,del(Yq11.2)
OT  - Amniocentesis
OT  - NIPT
OT  - Turner syndrome
COIS- Declaration of competing interest The authors have no conflicts of interest 
      relevant to this article.
EDAT- 2023/09/08 00:42
MHDA- 2023/09/11 06:42
CRDT- 2023/09/07 20:58
PHST- 2023/07/04 00:00 [accepted]
PHST- 2023/09/11 06:42 [medline]
PHST- 2023/09/08 00:42 [pubmed]
PHST- 2023/09/07 20:58 [entrez]
AID - S1028-4559(23)00193-6 [pii]
AID - 10.1016/j.tjog.2023.07.020 [doi]
PST - ppublish
SO  - Taiwan J Obstet Gynecol. 2023 Sep;62(5):749-753. doi: 10.1016/j.tjog.2023.07.020.