PMID- 36965910
OWN - NLM
STAT- MEDLINE
DCOM- 20230328
LR  - 20230328
IS  - 1875-6263 (Electronic)
IS  - 1028-4559 (Linking)
VI  - 62
IP  - 2
DP  - 2023 Mar
TI  - Low-level mosaic trisomy 15 at amniocentesis without uniparental disomy 15 in a 
      pregnancy associated with cytogenetic discrepancy between uncultured amniocytes 
      and cultured amniocytes, a favorable fetal outcome and perinatal decrease of the 
      aneuploid cell line.
PG  - 358-362
LID - S1028-4559(23)00039-6 [pii]
LID - 10.1016/j.tjog.2022.12.007 [doi]
AB  - OBJECTIVE: We present low-level mosaic trisomy 15 without uniparental disomy 
      (UPD) 15 in a pregnancy associated with cytogenetic discrepancy between 
      uncultured amniocytes and cultured amniocytes, a favorable fetal outcome and 
      perinatal decrease of the aneuploid cell line. CASE REPORT: A 40-year-old, 
      gravida 2, para 0, woman underwent amniocentesis at 16 weeks of gestation because 
      advanced maternal age. This pregnancy was conceived by in vitro fertilization and 
      embryo transfer. Amniocentesis revealed a karyotype of 47,XX,+15 [7]/46,XX [43]. 
      Simultaneous array comparative genomic hybridization (aCGH) analysis on the DNA 
      extracted from uncultured amniocytes revealed arr (15) x 2-3 (X) x 2 with 14% 
      mosaicism for trisomy 15, and ME028 multiplex ligation-dependent probe 
      amplification (MLPA) methylation test excluded UPD 15. Prenatal ultrasound and 
      parental karyotypes were normal. She was referred for genetic counseling, and 
      repeat amniocentesis performed at 28 weeks of gestation revealed 46, XX (20/20 
      colonies) in cultured amniocytes, and in uncultured amniocytes, interphase 
      fluorescence in situ hybridization (FISH) showed 13.7% (16/117 cells) mosaicism 
      for trisomy 15, aCGH analysis revealed arr [GRCh(hg19)] 15q11.22q26.3 (22, 765, 
      628-102,256,748) x 2.4 with a log(2) ratio = 0.26, consistent with 40% mosaicism 
      for trisomy 15, and quantitative fluorescent polymerase chain reaction (QF-PCR) 
      assays excluded UPD 15. The woman was encouraged to continue the pregnancy. At 37 
      weeks of gestation, a 2400-g phenotypically normal female baby was delivered 
      without any abnormality. The cord blood had 46, XX (40/40 cells). QF-PCR assays 
      determined maternal origin of trisomy 15 in the placenta. When follow-up at age 5 
      months, the neonate was normal in physical and psychomotor development. FISH 
      analysis on 102 buccal mucosal cells detected 2 cells (2%, 2/102 cells) with 
      trisomy 15 signals, compared with 1% in normal control. CONCLUSIONS: Low-level 
      mosaic trisomy 15 at amniocentesis without UPD 15 can be a transient and benign 
      condition, and can be associated with a favorable fetal outcome and perinatal 
      decrease of the aneuploid 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 - 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 - 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 - 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  - Pregnancy
MH  - Female
MH  - Humans
MH  - *Amniocentesis
MH  - *Trisomy/diagnosis/genetics
MH  - Comparative Genomic Hybridization
MH  - In Situ Hybridization, Fluorescence
MH  - Uniparental Disomy/genetics
MH  - Karyotyping
MH  - Mosaicism
OTO - NOTNLM
OT  - Amniocentesis
OT  - Mosaic trisomy 15
OT  - Mosaicism
OT  - Trisomy 15
OT  - Uniparental disomy 15
COIS- Declaration of competing interest The author has 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)00039-6 [pii]
AID - 10.1016/j.tjog.2022.12.007 [doi]
PST - ppublish
SO  - Taiwan J Obstet Gynecol. 2023 Mar;62(2):358-362. doi: 10.1016/j.tjog.2022.12.007.