PMID- 33218416
OWN - NLM
STAT- MEDLINE
DCOM- 20210726
LR  - 20210726
IS  - 1875-6263 (Electronic)
IS  - 1028-4559 (Linking)
VI  - 59
IP  - 6
DP  - 2020 Nov
TI  - Prenatal diagnosis of maternal uniparental disomy 5 by amniocentesis associated 
      with confined placental mosaicism for trisomy 5 and fetal trisomy 21 in a 
      pregnancy.
PG  - 938-940
LID - S1028-4559(20)30234-5 [pii]
LID - 10.1016/j.tjog.2020.09.023 [doi]
AB  - OBJECTIVE: We present prenatal diagnosis of maternal uniparental disomy (UPD) 5 
      by amniocentesis associated with confined placental mosaicism (CPM) for trisomy 5 
      and fetal trisomy 21 in a pregnancy. CASE REPORT: A 45-year-old woman underwent 
      chorionic villus sampling (CVS) at 11 weeks of gestation because of maternal 
      advanced age and an increased nuchal translucency of 4.0 mm in the 
      first-trimester screening. CVS revealed a karyotype of 
      47,XY,+21[98]/48,XY,+5,+21[25]. Array comparative genomic hybridization (aCGH) 
      analysis on the DNA extracted from chorionic villi revealed arr (5) x 3, arr 
      (21) x 3 compatible with double trisomy 5 and trisomy 21. The woman underwent 
      amniocenteses at 20 weeks and 22 weeks of gestation. Amniocenteses revealed a 
      karyotype of 47,XY,+21. The parental karyotypes were normal. Quantitative 
      fluorescent polymerase chain reaction (QF-PCR) on the DNA extracted from 
      uncultured amniocytes showed trisomy 21 of maternal origin and maternal UPD 5. 
      aCGH and interphase fluorescence in situ hybridization (FISH) on uncultured 
      amniocytes confirmed trisomy 21. Prenatal ultrasound findings were unremarkable. 
      The parents decided to continue the pregnancy, and a 2,198-g male baby was 
      delivered at 38 weeks of gestation with characteristic phenotype of Down syndrome 
      of hypertelorism, epicanthic folds and hypoplastic middle phalanx of the fifth 
      fingers. Cytogenetic analysis of cord blood, umbilical cord and placenta revealed 
      a karyotype of 47,XY,+21. QF-PCR analysis of the DNA extracted from placenta 
      revealed double trisomy 5 and trisomy 21 with maternal gene dosage increase in 
      chromosome 5 and chromosome 21. CONCLUSION: Prenatal diagnosis of CPM for trisomy 
      5 at CVS can be associated with UPD 5 in the fetus, and UPD 5 causes no specific 
      phenotype.
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 - Wang, Liang-Kai
AU  - Wang LK
AD  - Department of Obstetrics and Gynecology, 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 - Chen, Yun-Yi
AU  - Chen YY
AD  - Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.
FAU - Town, Dai-Dyi
AU  - Town DD
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
RN  - Chromosome 5, uniparental disomy
SB  - IM
MH  - Amniocentesis
MH  - Chorionic Villi Sampling
MH  - Chromosomes, Human, Pair 5
MH  - Comparative Genomic Hybridization
MH  - Cri-du-Chat Syndrome/*diagnosis
MH  - Cytogenetic Analysis
MH  - Down Syndrome/*diagnosis
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotype
MH  - Karyotyping
MH  - Live Birth
MH  - Middle Aged
MH  - Mosaicism/*embryology
MH  - Phenotype
MH  - Placenta
MH  - Pregnancy
MH  - Prenatal Diagnosis/*methods
MH  - Trisomy/*diagnosis
MH  - Uniparental Disomy/*diagnosis
OTO - NOTNLM
OT  - Amniocentesis
OT  - Confined placental mosaicism
OT  - Double trisomy 5 and trisomy 21
OT  - Trisomy 5
OT  - Uniparental disomy 5
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)30234-5 [pii]
AID - 10.1016/j.tjog.2020.09.023 [doi]
PST - ppublish
SO  - Taiwan J Obstet Gynecol. 2020 Nov;59(6):938-940. doi: 10.1016/j.tjog.2020.09.023.