PMID- 33218415
OWN - NLM
STAT- MEDLINE
DCOM- 20210726
LR  - 20210726
IS  - 1875-6263 (Electronic)
IS  - 1028-4559 (Linking)
VI  - 59
IP  - 6
DP  - 2020 Nov
TI  - Low-level mosaic trisomy 13 at amniocentesis associated with a favorable outcome 
      in a pregnancy.
PG  - 935-937
LID - S1028-4559(20)30233-3 [pii]
LID - 10.1016/j.tjog.2020.09.022 [doi]
AB  - OBJECTIVE: We present low-level mosaic trisomy 13 at amniocentesis associated 
      with a favorable outcome in a pregnancy. CASE REPORT: A 39-year-old woman 
      underwent amniocentesis at 17 weeks of gestation because of advanced maternal 
      age. Amniocentesis revealed a karyotype of 47,XY,+13[8]/46,XY[20]. The woman 
      underwent cord blood sampling at 22 weeks of gestation. Cytogenetic analysis of 
      cord blood revealed a karyotype of 47,XY,+13[2]/46,XY[98]. Array comparative 
      genomic hybridization (aCGH) analysis on the DNA extracted from cord blood 
      revealed 10% gene dosage increase in chromosome 13. Prenatal ultrasound findings 
      were unremarkable. After genetic counseling, the parents decided to continue the 
      pregnancy, and a 2,280-g healthy male baby was delivered at 38 weeks of 
      gestation. The parental karyotypes were normal. The cord blood at birth had a 
      karyotype of 47,XY,+13[1]/46,XY[49]. At age one month, interphase fluorescence in 
      situ hybridization (FISH) analysis revealed no trisomy 13 signals in 100/100 
      buccal mucosal cells, and trisomy 13 signals in 2/54 (3.7%) urinary cells 
      compared with 0/60 cells in the normal control. The neonate was doing well and 
      presented neither phenotypic abnormalities nor psychomotor disorders at age two 
      months. CONCLUSION: Low-level true mosaic trisomy 13 at amniocentesis without 
      ultrasound abnormalities can be associated with a favorable outcome.
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; 
      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, 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 - Lee, Meng-Shan
AU  - Lee MS
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  - Adult
MH  - Amniocentesis
MH  - Comparative Genomic Hybridization
MH  - Cytogenetic Analysis
MH  - Female
MH  - Fetal Blood/metabolism
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Infant, Newborn
MH  - Karyotyping
MH  - Live Birth/*genetics
MH  - Male
MH  - Pregnancy
MH  - Trisomy 13 Syndrome/*diagnosis/embryology
OTO - NOTNLM
OT  - Amniocentesis
OT  - Mosaicism
OT  - Trisomy 13
COIS- Declaration of competing interest The authors have no conflicts of interest 
      relevant to this article.
EDAT- 2020/11/22 06:00
MHDA- 2021/07/27 06:00
CRDT- 2020/11/21 05:24
PHST- 2020/08/28 00:00 [accepted]
PHST- 2020/11/21 05:24 [entrez]
PHST- 2020/11/22 06:00 [pubmed]
PHST- 2021/07/27 06:00 [medline]
AID - S1028-4559(20)30233-3 [pii]
AID - 10.1016/j.tjog.2020.09.022 [doi]
PST - ppublish
SO  - Taiwan J Obstet Gynecol. 2020 Nov;59(6):935-937. doi: 10.1016/j.tjog.2020.09.022.