PMID- 35361404
OWN - NLM
STAT- MEDLINE
DCOM- 20220404
LR  - 20220405
IS  - 1875-6263 (Electronic)
IS  - 1028-4559 (Linking)
VI  - 61
IP  - 2
DP  - 2022 Mar
TI  - Cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes in 
      mosaic 46,XX,dup(9)(q22.3q34.1)/46,XX at amniocentesis in a pregnancy with a 
      favorable outcome.
PG  - 368-371
LID - S1028-4559(22)00031-6 [pii]
LID - 10.1016/j.tjog.2022.02.031 [doi]
AB  - OBJECTIVE: We present our observation of cytogenetic discrepancy between cultured 
      amniocytes and uncultured amniocytes in mosaic dup(9)(q22.3q34.1) at 
      amniocentesis in a pregnancy with a favorable outcome. CASE REPORT: A 
      37-year-old, gravida 4, para 0, woman underwent amniocentesis at 18 weeks of 
      gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 
      46,XX, dup(9)(q22.3q34.1)[8]/46,XX[16]. Prenatal ultrasound findings were 
      unremarkable. She was referred for genetic counseling, and repeat amniocentesis 
      was performed at 21 weeks of gestation, which revealed a karyotype of 
      46,XX,dup(9)(q22.3q34.1)[7]/46,XX[25]. Simultaneous array comparative genomic 
      hybridization (aCGH) on the DNA extracted from uncultured amniocytes revealed no 
      genomic imbalance, or arr (1-22,X) x 2. Interphase fluorescence in situ 
      hybridization (FISH) analysis on 105 uncultured amniocytes detected only one cell 
      with the dup 9q signal with a mosaic dup 9q level of 1%, compared with 0% in 
      normal control. At 37 weeks of gestation, a 2640-g female baby was delivered with 
      no phenotypic abnormality. The cord blood had a karyotype of 46,XX,dup(9) 
      (q22.3q34.1)[4]/46,XX[36], the umbilical cord had a karyotype of 46,XX,dup(9) 
      (q22.3q34.1)[2]/46,XX[38], and the placenta had a karyotype of 46,XX. aCGH 
      analysis on cord blood revealed no genomic imbalance. At age 2(1/2) months, the baby 
      was doing well, the peripheral blood of the baby had a karyotype of 46,XX,dup(9) 
      (q22.3q34.1)[4]/46,XX[36], and interphase FISH analysis on buccal mucosal cells 
      revealed no dup 9q signal in 100 buccal mucosal cells. CONCLUSION: Cytogenetic 
      discrepancy may occur between cultured amniocytes and uncultured amniocytes in 
      mosaic dup(9) (q22.3q34.1). Molecular cytogenetic analysis on uncultured 
      amniocytes is useful for rapid distinguishing pseudomosaicism from true mosaicism 
      under such a circumstance.
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 - Su, Jun-Wei
AU  - Su JW
AD  - Department of Obstetrics and Gynecology, China Medical University Hospital, 
      Taichung, 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 - Chen, Wen-Lin
AU  - Chen WL
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 - 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  - Comparative Genomic Hybridization
MH  - Cytogenetic Analysis
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Pregnancy
OTO - NOTNLM
OT  - Amniocentesis
OT  - Cytogenetic discrepancy
OT  - Mosaic dup(9)(q22.3q34.1)
OT  - Pseudomosaicism
OT  - Uncultured amniocytes
COIS- Declaration of competing interest The authors have no conflicts of interest 
      relevant to this article.
EDAT- 2022/04/02 06:00
MHDA- 2022/04/05 06:00
CRDT- 2022/04/01 05:32
PHST- 2022/01/13 00:00 [accepted]
PHST- 2022/04/01 05:32 [entrez]
PHST- 2022/04/02 06:00 [pubmed]
PHST- 2022/04/05 06:00 [medline]
AID - S1028-4559(22)00031-6 [pii]
AID - 10.1016/j.tjog.2022.02.031 [doi]
PST - ppublish
SO  - Taiwan J Obstet Gynecol. 2022 Mar;61(2):368-371. doi: 10.1016/j.tjog.2022.02.031.