PMID- 35779920
OWN - NLM
STAT- MEDLINE
DCOM- 20220706
LR  - 20220706
IS  - 1875-6263 (Electronic)
IS  - 1028-4559 (Linking)
VI  - 61
IP  - 4
DP  - 2022 Jul
TI  - Prenatal diagnosis of pseudomosaicism for trisomy 20 at amniocentesis with a 
      negative non-invasive prenatal testing (NIPT) result in a pregnancy with a 
      favorable outcome.
PG  - 675-676
LID - S1028-4559(22)00154-1 [pii]
LID - 10.1016/j.tjog.2022.05.003 [doi]
AB  - OBJECTIVE: We present prenatal diagnosis of pseudomosaicism for trisomy 20 at 
      amniocentesis with a negative non-invasive prenatal testing (NIPT) result in a 
      pregnancy with a favorable outcome. CASE REPORT: A 33-year-old, primigravid woman 
      underwent amniocentesis at 17 weeks of gestation, which revealed a karyotype of 
      47,XX,+20[8]/46,XX[31]. Simultaneous array comparative genomic hybridization 
      (aCGH) analysis on the DNA extracted from uncultured amniocytes revealed the 
      result of arr (1-22,X) x 2, consistent with no genomic imbalance. She was 
      referred to the hospital for repeat amniocentesis at 23 weeks of gestation. At 
      repeat amniocentesis, cultured amniocytes had a karyotype of 
      47,XX,+20[2]/46,XX[33]. The parental karyotypes were normal. Simultaneous aCGH 
      analysis on the DNA extracted from uncultured amniocytes using SurePrint G3 
      Unrestricted CGH ISCA v2, 8 x 60 K (Agilent Technologies, Santa Clara, CA, USA) 
      revealed no genomic imbalance, or arr (1-22,X) x 2, Y x 0. Interphase 
      fluorescence in situ hybridization (FISH) analysis using the bacterial artificial 
      chromosome (BAC) probes of RP11-266K16 [20q13.33; fluorescein isothiocyanate 
      (FITC), spectrum green] and RP11-348I14 (20q11.1-q11.21; Texas Red, spectrum red) 
      detected trisomy 20 signals in 4/104 uncultured amniocytes (3.8%), compared with 
      0/100 in the normal control. Polymorphic DNA marker analysis using the DNA 
      extracted from uncultured amniocytes and parental bloods excluded uniparental 
      disomy 20. NIPT analysis on maternal blood revealed a negative result without 
      gene dosage increase in chromosome 20. The pregnancy was carried to term, and a 
      healthy 2830-g female baby was delivered with no phenotypic abnormality. Both 
      cord blood and placenta had a karyotype of 46,XX. CONCLUSION: NIPT is useful for 
      rapid differential diagnosis of pseudomosaicism from true mosaicism in case of 
      mosaic trisomy 20 at amniocentesis.
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 - Wang, Liang-Kai
AU  - Wang LK
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 - 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 - 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  - 0 (Vitamins)
RN  - Chromosome 20, trisomy
SB  - IM
MH  - *Amniocentesis
MH  - Chromosomes, Human, Pair 20/genetics
MH  - Comparative Genomic Hybridization
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - *Mosaicism
MH  - Pregnancy
MH  - Prenatal Diagnosis
MH  - Trisomy
MH  - Vitamins
OTO - NOTNLM
OT  - Amniocentesis
OT  - Mosaic trisomy 20
OT  - Non-invasive prenatal testing (NIPT)
OT  - Pseudomosaicism
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)00154-1 [pii]
AID - 10.1016/j.tjog.2022.05.003 [doi]
PST - ppublish
SO  - Taiwan J Obstet Gynecol. 2022 Jul;61(4):675-676. doi: 10.1016/j.tjog.2022.05.003.