PMID- 35779923
OWN - NLM
STAT- MEDLINE
DCOM- 20220706
LR  - 20220706
IS  - 1875-6263 (Electronic)
IS  - 1028-4559 (Linking)
VI  - 61
IP  - 4
DP  - 2022 Jul
TI  - Mosaic trisomy 18 at amniocentesis associated with a favorable fetal outcome in a 
      pregnancy.
PG  - 690-694
LID - S1028-4559(22)00157-7 [pii]
LID - 10.1016/j.tjog.2022.05.006 [doi]
AB  - OBJECTIVE: We present prenatal diagnosis of mosaic trisomy 18 by amniocentesis 
      associated with a favorable fetal outcome in a pregnancy. CASE REPORT: A 
      42-year-old, gravida 4, para 2, woman underwent amniocentesis at 18 weeks of 
      gestation because advanced maternal age. Amniocentesis revealed a karyotype of 
      47,XX,+18[6]/46,XX[17]. Simultaneous array comparative genomic hybridization 
      (aCGH) on uncultured amniocytes showed the result of 45% mosaicism for trisomy 
      18. At 25 weeks of gestation, the woman underwent repeat amniocentesis which 
      revealed a karyotype of 47,XX,+18[10]/46,XX[24]. Simultaneous aCGH on uncultured 
      amniocytes showed the result of arr 18p11.32q23 (148,963-78,012,829) x 2.3 [GRCh 
      (hg19)] with a log(2) ratio of 0.2-0.25 compatible with 30-38% mosaicism for 
      trisomy 18. The parental karyotypes were normal. Prenatal ultrasound was 
      unremarkable. Interphase fluorescence in situ hybridization (FISH) on uncultured 
      amniocytes showed 27% (27/100 cells) mosaicism for trisomy 18. Quantitative 
      fluorescent polymerase chain reaction (QF-PCR) on uncultured amniocytes excluded 
      uniparental disomy (UPD) 18. Non-invasive prenatal testing (NIPT) analysis at 34 
      weeks of gestation revealed a significant gene dosage increase of chromosome 18 
      (29.95; normal control: -3.0-3.0). At 39 weeks of gestation, a 2840-g 
      phenotypically normal baby was delivered. The cord blood had a karyotype of 
      47,XX,+18[8]/46,XX[32]. The placenta was trisomy 18 of maternal origin. The 
      umbilical cord had a karyotype of 47,XX,+18[2]/46,XX[38]. At age 1(1/2) months, the 
      peripheral blood had a karyotype of 47,XX,+18[5]/46,XX[35], and FISH analysis on 
      buccal mucosal cells revealed 2% (2/102 cells) mosaicism for trisomy 18. When 
      follow-up at age seven months, the neonate was phenotypically normal, and the 
      peripheral blood had a karyotype of 47,XX,+18[1]/46,XX[39]. CONCLUSIONS: Mosaic 
      trisomy 18 at amniocentesis without abnormal fetal ultrasound can be associated 
      with a favorable outcome, and the abnormal trisomy 18 cell line may decrease 
      progressively after birth.
CI  - Copyright (c) 2022. 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. Electronic address: cpc_mmh@yahoo.com.
FAU - Hsu, Te-Yao
AU  - Hsu TY
AD  - Department of Obstetrics and Gynecology, Kaohsiung Chang Gung Memorial Hospital, 
      Chang Gung University College of Medicine, Kaohsiung, Taiwan.
FAU - Tsai, Ching-Chang
AU  - Tsai CC
AD  - Department of Obstetrics and Gynecology, Kaohsiung Chang Gung Memorial Hospital, 
      Chang Gung University College of Medicine, Kaohsiung, Taiwan.
FAU - Chern, Schu-Rern
AU  - Chern SR
AD  - Department of Medical Research, MacKay Memorial Hospital, 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 - Wu, Peih-Shan
AU  - Wu PS
AD  - Gene Biodesign Co. Ltd, Taipei, Taiwan.
FAU - Lee, Chen-Chi
AU  - Lee CC
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 - 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
SB  - IM
MH  - *Amniocentesis
MH  - Comparative Genomic Hybridization
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Pregnancy
MH  - *Trisomy/diagnosis/genetics
MH  - Trisomy 18 Syndrome/diagnosis/genetics
OTO - NOTNLM
OT  - Amniocentesis
OT  - Mosaic trisomy 18
OT  - Mosaicism
OT  - Prenatal diagnosis
COIS- Declaration of competing interest The authors have no conflicts of interest 
      relevant to this article.
EDAT- 2022/07/03 06:00
MHDA- 2022/07/07 06:00
CRDT- 2022/07/02 21:04
PHST- 2022/05/12 00:00 [accepted]
PHST- 2022/07/02 21:04 [entrez]
PHST- 2022/07/03 06:00 [pubmed]
PHST- 2022/07/07 06:00 [medline]
AID - S1028-4559(22)00157-7 [pii]
AID - 10.1016/j.tjog.2022.05.006 [doi]
PST - ppublish
SO  - Taiwan J Obstet Gynecol. 2022 Jul;61(4):690-694. doi: 10.1016/j.tjog.2022.05.006.