PMID- 33966743
OWN - NLM
STAT- MEDLINE
DCOM- 20211020
LR  - 20211020
IS  - 1875-6263 (Electronic)
IS  - 1028-4559 (Linking)
VI  - 60
IP  - 3
DP  - 2021 May
TI  - Prenatal diagnosis of maternal uniparental disomy 16 associated with mosaic 
      trisomy 16 at amniocentesis, and pericardial effusion and intrauterine growth 
      restriction in the fetus.
PG  - 534-539
LID - S1028-4559(21)00078-4 [pii]
LID - 10.1016/j.tjog.2021.03.027 [doi]
AB  - OBJECTIVE: We present prenatal diagnosis of maternal uniparental disomy (UPD) 16 
      associated with mosaic trisomy 16 at amniocentesis, and pericardial effusion and 
      intrauterine growth restriction (IUGR) in the fetus. CASE REPORT: A 38-year-old 
      woman underwent amniocentesis at 17 weeks of gestation because of advanced 
      maternal age, and the result was 47,XX,+16[2]/46,XX[54]. Simultaneous array 
      comparative genomic hybridization (aCGH) analysis on the DNA extracted from 
      uncultured amniocytes revealed 14% mosaicism for trisomy 16 and a paternally 
      inherited 319-kb microdeletion of 15q11.2 encompassing the genes of TUBGCP5, 
      CYFIP1, NIPA2 and NIPA1. Prenatal ultrasound revealed persistent left superior 
      vena cava, pericardial effusion and severe IUGR. Cordocentesis at 23 weeks of 
      gestation revealed a karyotype of 46,XX, but polymorphic DNA marker analysis 
      revealed maternal UPD 16. Repeat amniocentesis was performed at 27 weeks of 
      gestation and revealed a karyotype of 46, XX in 21/21 colonies. Molecular 
      cytogenetic analysis on uncultured amniocytes revealed 22.4% mosaicism 
      (26/116 cells) for trisomy 16 on interphase fluorescence in situ hybridization 
      (FISH) analysis, and 20% mosaicism for trisomy 16 on aCGH. Polymorphic DNA marker 
      analysis on the DNAs extracted from uncultured amniocytes and parental bloods 
      revealed maternal UPD 16. The pregnancy was subsequently terminated, and a fetus 
      was delivered with facial dysmorphism and severe IUGR. The umbilical cord had a 
      karyotype of 47,XX,+16[28]/46,XX[16]. Polymorphic DNA marker analysis on placenta 
      confirmed a maternal origin of trisomy 16. CONCLUSION: Cytogenetic discrepancy 
      between cultured amniocytes and uncultured amniocytes may present in mosaic 
      trisomy 16 at amniocentesis. Prenatal diagnosis of mosaic trisomy 16 should alert 
      the association of maternal UPD 16 which may be associated with congenital heart 
      defects and severe IUGR on prenatal ultrasound.
CI  - Copyright (c) 2021. 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, Asia University, Taichung, Taiwan. Electronic address: 
      cpc_mmh@yahoo.com.
FAU - Ko, Tsang-Ming
AU  - Ko TM
AD  - Genephile Bioscience Laboratory, Ko's Obstetrics and Gynecology, 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 - 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 - Chen, Li-Feng
AU  - Chen LF
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 16, trisomy
SB  - IM
MH  - Abortion, Eugenic
MH  - Adult
MH  - *Amniocentesis
MH  - Chromosomes, Human, Pair 16/genetics
MH  - Comparative Genomic Hybridization
MH  - Cytogenetic Analysis
MH  - Female
MH  - Fetal Growth Retardation/*diagnosis/genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotype
MH  - Maternal Inheritance/genetics
MH  - Mosaicism/embryology
MH  - Pericardial Effusion/congenital/*diagnosis/embryology
MH  - Pregnancy
MH  - Trisomy/*diagnosis/genetics
MH  - Uniparental Disomy/*diagnosis/genetics
MH  - Vena Cava, Superior/diagnostic imaging/embryology
OTO - NOTNLM
OT  - Amniocentesis
OT  - Intrauterine growth restriction
OT  - Mosaic trisomy 16
OT  - Prenatal diagnosis
OT  - Uniparental disomy (UPD) 16
COIS- Declaration of competing interest The authors have no conflicts of interest 
      relevant to this article.
EDAT- 2021/05/11 06:00
MHDA- 2021/10/21 06:00
CRDT- 2021/05/10 06:02
PHST- 2021/02/09 00:00 [accepted]
PHST- 2021/05/10 06:02 [entrez]
PHST- 2021/05/11 06:00 [pubmed]
PHST- 2021/10/21 06:00 [medline]
AID - S1028-4559(21)00078-4 [pii]
AID - 10.1016/j.tjog.2021.03.027 [doi]
PST - ppublish
SO  - Taiwan J Obstet Gynecol. 2021 May;60(3):534-539. doi: 10.1016/j.tjog.2021.03.027.