PMID- 29241931
OWN - NLM
STAT- MEDLINE
DCOM- 20180801
LR  - 20180801
IS  - 1875-6263 (Electronic)
IS  - 1028-4559 (Linking)
VI  - 56
IP  - 6
DP  - 2017 Dec
TI  - Prenatal diagnosis of low-level mosaicism for trisomy 13 at amniocentesis 
      associated with a favorable outcome.
PG  - 840-842
LID - S1028-4559(17)30264-4 [pii]
LID - 10.1016/j.tjog.2017.10.025 [doi]
AB  - OBJECTIVE: We present prenatal diagnosis of low-level mosaicism for trisomy 13 at 
      amniocentesis associated with a favorable outcome. CASE REPORT: A 35-year-old 
      woman underwent amniocentesis at 18 weeks of gestation because of advanced 
      maternal age. Amniocentesis revealed a karyotype of 47,XY,+13[5]/46,XY[20]. 
      Oligonucleotide array comparative genomic hybridization (aCGH) analysis on 
      uncultured amniocytes revealed arr [GRCh37] (13)x3 [0.10], (X,Y)x1 compatible 
      with trisomy 13 mosaicism. Prenatal ultrasound was unremarkable. Repeat 
      amniocentesis was performed at 21 weeks of gestation. Interphase fluorescence in 
      situ hybridization (FISH) analysis on uncultured amniocytes revealed a mosaic 
      trisomy 13 level of 10% (10/100 cells). aCGH analysis on uncultured amniocytes 
      revealed a result of arr 13q12.11q34 (20,407,323-115,092,619)x2.1 with a log(2) 
      ratio of 0.06 compatible with a 10% level of mosaicism. Polymorphic DNA marker 
      analysis excluded uniparental disomy 13. The parental karyotypes were normal. 
      Conventional cytogenetic analysis using cultured amniocytes at repeat 
      amniocentesis revealed a karyotype of 46,XY in 23/23 colonies. The pregnancy was 
      carried to 37 weeks of gestation, and a 3600-g phenotypically normal male baby 
      was delivered. When examined at 8 months of age, the infant was doing well and 
      was normal in psychomotor and growth development. The peripheral blood had a 
      karyotype of 46,XY, and interphase FISH analysis on uncultured urinary cells 
      revealed a mosaic trisomy 13 level of 4.4% (2/45 cells). CONCLUSION: Low-level 
      true mosaicism for trisomy 13 at amniocentesis without ultrasound abnormalities 
      can be associated with a favorable fetal outcome.
CI  - Copyright (c) 2017. 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 - 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 - Lai, Shih-Ting
AU  - Lai ST
AD  - Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, 
      Taiwan.
FAU - Chuang, Tzu-Yun
AU  - Chuang TY
AD  - Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, 
      Taiwan.
FAU - Yang, Chien-Wen
AU  - Yang CW
AD  - Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.
FAU - Lee, Chen-Chi
AU  - Lee CC
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  - Case Reports
PT  - Journal Article
PL  - China (Republic : 1949- )
TA  - Taiwan J Obstet Gynecol
JT  - Taiwanese journal of obstetrics & gynecology
JID - 101213819
SB  - IM
MH  - Adult
MH  - *Amniocentesis
MH  - Comparative Genomic Hybridization
MH  - Cytogenetic Analysis/*methods
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant, Newborn
MH  - Live Birth
MH  - Male
MH  - Maternal Age
MH  - Mosaicism/*embryology
MH  - Pregnancy
MH  - Trisomy 13 Syndrome/*diagnosis/embryology/genetics
OTO - NOTNLM
OT  - Amniocentesis
OT  - Mosaicism
OT  - Trisomy 13
EDAT- 2017/12/16 06:00
MHDA- 2018/08/02 06:00
CRDT- 2017/12/16 06:00
PHST- 2017/10/17 00:00 [accepted]
PHST- 2017/12/16 06:00 [entrez]
PHST- 2017/12/16 06:00 [pubmed]
PHST- 2018/08/02 06:00 [medline]
AID - S1028-4559(17)30264-4 [pii]
AID - 10.1016/j.tjog.2017.10.025 [doi]
PST - ppublish
SO  - Taiwan J Obstet Gynecol. 2017 Dec;56(6):840-842. doi: 10.1016/j.tjog.2017.10.025.