PMID- 31759542
OWN - NLM
STAT- MEDLINE
DCOM- 20200504
LR  - 20200505
IS  - 1875-6263 (Electronic)
IS  - 1028-4559 (Linking)
VI  - 58
IP  - 6
DP  - 2019 Nov
TI  - Mosaic isochromosome 20q at amniocentesis: Prenatal diagnosis, genetic counseling 
      and literature review.
PG  - 855-858
LID - S1028-4559(19)30228-1 [pii]
LID - 10.1016/j.tjog.2019.08.002 [doi]
AB  - OBJECTIVE: We present prenatal diagnosis of mosaic isochromosome 20q [i(20q)] at 
      amniocentesis, and we review the literature. CASE REPORT: A 36-year-old woman 
      underwent amniocentesis at 17 weeks of gestation because of advanced maternal 
      age. Amniocentesis revealed a karyotype of 46,XY,i(20)(q10)[27]/46,XY[29]. 
      Prenatal ultrasound findings were unremarkable. The parental karyotypes were 
      normal. Repeat amniocentesis was performed at 20 weeks of gestation. During 
      repeat amniocentesis, array comparative genomic hybridization (aCGH), interphase 
      fluorescence in situ hybridization (FISH) and quantitative fluorescent polymerase 
      chain reaction (QF-PCR) assay were performed on uncultured amniocytes, and 
      conventional cytogenetic analysis, interphase FISH and aCGH were performed on 
      cultured amniocytes. In the repeat amniocentesis, the cultured amniocytes 
      revealed a karyotype of 46,XY. Interphase FISH analysis showed the i(20q) signal 
      in 5.2% (5/96) of the uncultured amniocytes compared with 2% in the control, and 
      in 0.98% (1/102) of the cultured amniocytes compared with 2% in the control. aCGH 
      detected no genomic imbalance in both uncultured and cultured amniocytes. QF-PCR 
      analysis excluded uniparental disomy 20. At 38 weeks of gestation, a healthy 
      2870-g male baby was delivered with no phenotypic abnormality. The postnatal 
      blood karyotype was 46,XY. FISH analysis on urinary cells showed 2.1% (2/95 
      cells) mosaicism compared with 1.9% (2/105 cells) in the control. CONCLUSION: 
      Mosaic i(20q) at amniocentesis is a benign condition associated with a favorable 
      outcome in most cases and can be a cell culture artifact confined to cultured 
      amniocytes. Molecular cytogenetic analysis using uncultured amniocytes is useful 
      for rapid confirmation. Prenatal diagnosis of very high percentage of mosaicism 
      for i(20q) at amniocentesis should alert the presence of fetal structural 
      abnormalities. Prenatal diagnosis of mosaic i(20q) at amniocentesis should 
      include a detail examination of fetal brain and spine.
CI  - Copyright (c) 2019. 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; 
      Department of Biotechnology, Asia University, Taichung, 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 - 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 - Town, Dai-Dyi
AU  - Town DD
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; 
      Department of Bioengineering, Tatung University, Taipei, Taiwan.
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Review
PL  - China (Republic : 1949- )
TA  - Taiwan J Obstet Gynecol
JT  - Taiwanese journal of obstetrics & gynecology
JID - 101213819
SB  - IM
MH  - Adult
MH  - Amniocentesis/*methods
MH  - Chromosomes, Human, Pair 20/*genetics
MH  - Comparative Genomic Hybridization
MH  - Female
MH  - Genetic Counseling/*methods
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/methods
MH  - Isochromosomes/*genetics
MH  - Karyotyping
MH  - *Mosaicism
MH  - Pregnancy
MH  - Prenatal Diagnosis/*methods
MH  - Uniparental Disomy/*diagnosis/genetics
OTO - NOTNLM
OT  - Amniocentesis
OT  - Amniocytes
OT  - Isochromosome 20q
OT  - Mosaicism
OT  - Prenatal diagnosis
EDAT- 2019/11/25 06:00
MHDA- 2020/05/06 06:00
CRDT- 2019/11/25 06:00
PHST- 2019/08/22 00:00 [accepted]
PHST- 2019/11/25 06:00 [entrez]
PHST- 2019/11/25 06:00 [pubmed]
PHST- 2020/05/06 06:00 [medline]
AID - S1028-4559(19)30228-1 [pii]
AID - 10.1016/j.tjog.2019.08.002 [doi]
PST - ppublish
SO  - Taiwan J Obstet Gynecol. 2019 Nov;58(6):855-858. doi: 10.1016/j.tjog.2019.08.002.