PMID- 32127154
OWN - NLM
STAT- MEDLINE
DCOM- 20201214
LR  - 20201214
IS  - 1875-6263 (Electronic)
IS  - 1028-4559 (Linking)
VI  - 59
IP  - 2
DP  - 2020 Mar
TI  - Prenatal diagnosis of low-level mosaic trisomy 17 with maternal uniparental 
      disomy 17 by amniocentesis in a pregnancy with a favorable outcome.
PG  - 301-305
LID - S1028-4559(20)30021-8 [pii]
LID - 10.1016/j.tjog.2020.01.021 [doi]
AB  - OBJECTIVE: We present prenatal diagnosis low-level mosaic trisomy 17 with 
      maternal uniparental disomy (UPD) 17 at amniocentesis in a pregnancy with a 
      favorable outcome. MATERIALS AND METHODS: A 40-year-old, primigravid woman 
      underwent amniocentesis at 18 weeks of gestation because of advanced maternal 
      age. This pregnancy was conceived by in vitro fertilization and embryo transfer. 
      Amniocentesis revealed a karyotype of 47,XX,+17 [13]/ 46, XX [23]. Repeat 
      amniocentesis was performed at 21 weeks of gestation. Conventional cytogenetic 
      analysis was applied on cultured amniocytes, parental bloods and cord blood. 
      Simultaneous molecular genetic analysis such as interphase fluorescence in situ 
      hybridization (FISH), array comparative genomic hybridization (aCGH) and 
      quantitative fluorescent polymerase chain reaction (QF-PCR) assays were applied 
      on uncultured amniocytes. Interphase FISH was applied on postnatal buccal cells. 
      RESULTS: Repeat amniocentesis revealed a karyotype of 47,XX,+17[6]/46,XX[28]. 
      Genetic analyses on uncultured amniocytes showed the results of mosaic trisomy 17 
      (12/101 cells = 11.9%) in FISH analysis, no genomic imbalance in aCGH analysis 
      and maternal UPD 17 in QF-PCR assays. The parental karyotypes were normal. 
      Prenatal ultrasound findings were unremarkable. The parents decided to continue 
      the pregnancy, and a 1449-g, phenotypically normal female baby was delivered 
      prematurely at 31 weeks of gestation. The cord blood had a karyotype of 46,XX. 
      She had a normal psychomotor development at age 22 months at follow-up. 
      Interphase FISH analysis on buccal cells showed trisomy 17 signals in 1/66 cells 
      (1.5%). CONCLUSIONS: Low-level mosaicism for trisomy 17 associated with maternal 
      UPD 17 detected by amniocentesis without ultrasound abnormality can be associated 
      with a favorable outcome. Molecular genetic analysis of uncultured amniocytes at 
      repeat amniocentesis is useful for confirmation and genetic counseling under such 
      as circumstance.
CI  - Copyright (c) 2020. 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; 
      Department of Biotechnology, Asia University, Taichung, Taiwan; School of Chinese 
      Medicine, College of Chinese Medicine, China Medical University, Taichung, 
      Taiwan; Institute of Clinical and Community Health Nursing, National Yang-Ming 
      University, Taipei, Taiwan; Department of Obstetrics and Gynecology, School of 
      Medicine, National Yang-Ming University, Taipei, Taiwan. Electronic address: 
      cpc_mmh@yahoo.com.
FAU - Lin, Shin-Yu
AU  - Lin SY
AD  - Department of Obstetrics and Gynecology, National Taiwan University Hospital and 
      National Taiwan University College of Medicine, 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 - 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 - Town, Dai-Dyi
AU  - Town DD
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; 
      Department of Bioengineering, Tatung University, Taipei, Taiwan.
LA  - eng
PT  - Journal Article
PL  - China (Republic : 1949- )
TA  - Taiwan J Obstet Gynecol
JT  - Taiwanese journal of obstetrics & gynecology
JID - 101213819
RN  - Chromosome 17 trisomy
SB  - IM
MH  - Adult
MH  - *Amniocentesis
MH  - Chromosomes, Human, Pair 17/genetics
MH  - Comparative Genomic Hybridization
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Live Birth
MH  - Mosaicism/embryology
MH  - Pregnancy
MH  - Premature Birth/*genetics
MH  - Trisomy/*diagnosis/genetics
MH  - Uniparental Disomy/*diagnosis/genetics
OTO - NOTNLM
OT  - Maternal uniparental disomy 17
OT  - Mosaic trisomy 17
OT  - Prenatal diagnosis
OT  - amniocentesis
COIS- Declaration of Competing Interest The authors have no conflicts of interest 
      relevant to this article.
EDAT- 2020/03/05 06:00
MHDA- 2020/12/15 06:00
CRDT- 2020/03/05 06:00
PHST- 2020/01/08 00:00 [accepted]
PHST- 2020/03/05 06:00 [entrez]
PHST- 2020/03/05 06:00 [pubmed]
PHST- 2020/12/15 06:00 [medline]
AID - S1028-4559(20)30021-8 [pii]
AID - 10.1016/j.tjog.2020.01.021 [doi]
PST - ppublish
SO  - Taiwan J Obstet Gynecol. 2020 Mar;59(2):301-305. doi: 10.1016/j.tjog.2020.01.021.