PMID- 37407205
OWN - NLM
STAT- MEDLINE
DCOM- 20230707
LR  - 20230718
IS  - 1875-6263 (Electronic)
IS  - 1028-4559 (Linking)
VI  - 62
IP  - 4
DP  - 2023 Jul
TI  - Prenatal diagnosis of mosaic trisomy 18 and maternal uniparental disomy 18 by 
      amniocentesis in a pregnancy associated with cytogenetic discrepancy in various 
      tissues and a favorable fetal outcome.
PG  - 606-610
LID - S1028-4559(23)00149-3 [pii]
LID - 10.1016/j.tjog.2023.05.012 [doi]
AB  - OBJECTIVE: We present prenatal diagnosis of mosaic trisomy 18 and maternal 
      uniparental disomy (UPD) 18 in a pregnancy with a favorable fetal outcome. CASE 
      REPORT: A 34-year-old woman underwent amniocentesis at 17 weeks of gestation 
      because of advanced maternal age, and the result was 47,XY,+18 [4]/46,XY [25] in 
      cultured amniocytes. Simultaneous array comparative genomic hybridization (aCGH) 
      on uncultured amniocytes revealed 65% mosaicism for trisomy 18. Prenatal 
      ultrasound was normal. She consulted our hospital and underwent repeat 
      amniocentesis at 22 weeks of gestation, and the result revealed a karyotype of 
      47,XY,+18 [9]/46,XY [12] in cultured amniocytes. Simultaneous aCGH on uncultured 
      amniocytes revealed arr 18p11.32q23 x 2.4 (log(2) ratio = 0.3) consistent with 
      40% mosaicism for trisomy 18. Parental karyotypes were normal. Quantitative 
      fluorescent polymerase chain reaction (QF-PCR) analysis on the DNA extracted from 
      parental bloods and uncultured amniocytes confirmed maternal uniparental 
      heterodisomy of chromosome 18. At 26 weeks of gestation, she underwent the third 
      amniocentesis which revealed a karyotype of 47,XY,+18 [7]/46,XY [19] in cultured 
      amniocytes. Simultaneous aCGH on uncultured amniocytes revealed arr 
      18p11.32q23 x 2.4 (log(2) ratio = 0.27) consistent with 40% mosaicism for trisomy 
      18. Interphase fluorescence in situ hybridization (FISH) on uncultured amniocytes 
      revealed 38% (38/100 cells) mosaicism for trisomy 18. The woman was advised to 
      continue the pregnancy, and a 2620-g phenotypically normal male baby was 
      delivered at 40 weeks of gestation. At birth, the karyotypes of cord blood, 
      umbilical cord and placenta were 47,XY,+18 [14]/46,XY [26], 47,XY,+18 [9]/46,XY 
      [31] and 47,XY,+18 (40/40 cells), respectively. When follow-up at age 2(1/2) months, 
      the neonate was phenotypically normal. The peripheral blood had a karyotype of 
      47,XY,+18 [28]/46,XY [12], and interphase FISH analysis on buccal mucosal cells 
      detected 6.4% (7/93 cells) mosaicism for trisomy 18, compared with 0% 
      (0/100 cells) in the normal control. When follow-up at age seven months, the 
      neonate was normal in development, and the peripheral blood had a karyotype of 
      47,XY,+18 [18]/46,XY [22]. CONCLUSIONS: Mosaic trisomy 18 at amniocentesis can be 
      associated with cytogenetic discrepancy in various tissues, UPD 18 and a 
      favorable fetal outcome. Prenatal diagnosis of mosaic trisomy 18 should alert the 
      possibility of UPD 18 and include UPD testing.
CI  - Copyright (c) 2023. 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, College of Medical and Health Science, Asia University, Taichung, 
      Taiwan. Electronic address: cpc_mmh@yahoo.com.
FAU - Wu, Fang-Tzu
AU  - Wu FT
AD  - Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, 
      Taiwan.
FAU - Pan, Yen-Ting
AU  - Pan YT
AD  - Department of Obstetrics and Gynecology, MacKay Memorial Hospital, 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 - Chiu, Chien-Ling
AU  - Chiu CL
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 - Chen, Wen-Lin
AU  - Chen WL
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  - Pregnancy
MH  - Female
MH  - Male
MH  - Humans
MH  - *Amniocentesis
MH  - *Uniparental Disomy/diagnosis/genetics
MH  - Comparative Genomic Hybridization
MH  - In Situ Hybridization, Fluorescence
MH  - Trisomy 18 Syndrome/diagnosis/genetics
MH  - Trisomy/diagnosis/genetics
MH  - Prenatal Diagnosis
MH  - Karyotyping
MH  - Karyotype
MH  - Mosaicism
OTO - NOTNLM
OT  - Amniocentesis
OT  - Mosaic trisomy 18
OT  - Mosaicism
OT  - Uniparental disomy 18
COIS- Declaration of competing interest The authors have no conflicts of interest 
      relevant to this article.
EDAT- 2023/07/06 01:08
MHDA- 2023/07/07 06:42
CRDT- 2023/07/05 20:57
PHST- 2023/05/16 00:00 [accepted]
PHST- 2023/07/07 06:42 [medline]
PHST- 2023/07/06 01:08 [pubmed]
PHST- 2023/07/05 20:57 [entrez]
AID - S1028-4559(23)00149-3 [pii]
AID - 10.1016/j.tjog.2023.05.012 [doi]
PST - ppublish
SO  - Taiwan J Obstet Gynecol. 2023 Jul;62(4):606-610. doi: 10.1016/j.tjog.2023.05.012.