PMID- 32855656
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20220416
IS  - 1755-8166 (Print)
IS  - 1755-8166 (Electronic)
IS  - 1755-8166 (Linking)
VI  - 13
DP  - 2020
TI  - Prenatal diagnosis of mosaic trisomy 2 and literature review.
PG  - 36
LID - 10.1186/s13039-020-00504-3 [doi]
LID - 36
AB  - BACKGROUND: We presented two cases of mosaic trisomy 2 with high risk of maternal 
      serum screening and non-invasive prenatal testing (NIPT). The invasive 
      amniocentesis was performed and genetic tests including karyotype, single 
      nucleotide polymorphism array(SNP-array), interphase fluorescence in situ 
      hybridization (FISH) were employed to detect the chromosomal abnormality. 
      RESULTS: Cytogentic analysis of the case 1 and 2 showed a mosaic karyotype 
      consisting of two cell lines (mos 47,XY,+2[8]/46,XY[19] and mos 
      47,XX,+2[7]/46,XX[28], respectively). SNP-array using DNA extracted from 
      uncultured amniotic fluid cells revealed a result of arr[GRCh38](2)x2~3, which 
      indicated that chromosome 2 may be trisomy of mosaicism in both two cases. The 
      results of interphases FISH confirmation test showed that three red signals of 
      the CEP 2 specific probe in 14%(14/100) and 12%(12/100) of the two cases' cells, 
      respectively, which indicated a mosaicism for trisomy 2 in the uncultured 
      amniocytes. Fetal ultrasound of case 1 suggested that the long bone is smaller 
      than the gestational age, while the case 2 showed that the biparietal diameter 
      (BPD), head circumference (HC) and femur length (FL) were smaller than 
      gestational age along with abnormal cardiac structure. CONCLUSIONS: We presented 
      two cases with mosaic trisomy 2 and performed confirmatory genetic testing using 
      cultured and uncultured amniocytes. When maternal serum screening and NIPT 
      suggesting high risk, genetic counselor should be alert for increasing 
      possibility of chromosomal anomalies if combined with abnormal ultrasound 
      findings.
CI  - (c) The Author(s) 2020.
FAU - Wang, Ting
AU  - Wang T
AD  - Medical Genetic Center, Guangdong Women and Children Hospital, Guangzhou,Chi531 
      Xinnan Road, Panyu District, Guangzhou, China. GRID: grid.459579.3
FAU - Lian, Jufei
AU  - Lian J
AD  - Medical Genetic Center, Guangdong Women and Children Hospital, Guangzhou,Chi531 
      Xinnan Road, Panyu District, Guangzhou, China. GRID: grid.459579.3
FAU - Ren, Congmian
AU  - Ren C
AD  - Medical Genetic Center, Guangdong Women and Children Hospital, Guangzhou,Chi531 
      Xinnan Road, Panyu District, Guangzhou, China. GRID: grid.459579.3
FAU - Huang, Huamei
AU  - Huang H
AD  - Medical Genetic Center, Guangdong Women and Children Hospital, Guangzhou,Chi531 
      Xinnan Road, Panyu District, Guangzhou, China. GRID: grid.459579.3
FAU - Huang, Yanlin
AU  - Huang Y
AD  - Medical Genetic Center, Guangdong Women and Children Hospital, Guangzhou,Chi531 
      Xinnan Road, Panyu District, Guangzhou, China. GRID: grid.459579.3
FAU - Xu, Ling
AU  - Xu L
AD  - Medical Genetic Center, Guangdong Women and Children Hospital, Guangzhou,Chi531 
      Xinnan Road, Panyu District, Guangzhou, China. GRID: grid.459579.3
FAU - Zheng, Laiping
AU  - Zheng L
AD  - Medical Genetic Center, Guangdong Women and Children Hospital, Guangzhou,Chi531 
      Xinnan Road, Panyu District, Guangzhou, China. GRID: grid.459579.3
FAU - Cai, Chanhui
AU  - Cai C
AD  - Medical Genetic Center, Guangdong Women and Children Hospital, Guangzhou,Chi531 
      Xinnan Road, Panyu District, Guangzhou, China. GRID: grid.459579.3
FAU - Guo, Li
AU  - Guo L
AD  - Medical Genetic Center, Guangdong Women and Children Hospital, Guangzhou,Chi531 
      Xinnan Road, Panyu District, Guangzhou, China. GRID: grid.459579.3
LA  - eng
PT  - Journal Article
DEP - 20200825
PL  - England
TA  - Mol Cytogenet
JT  - Molecular cytogenetics
JID - 101317942
PMC - PMC7445897
OTO - NOTNLM
OT  - Chromosomal abnormality
OT  - Fluorescence in situ hybridization
OT  - Mosaicism
OT  - Non-invasive prenatal testing
OT  - Prenatal diagnosis
OT  - Single nucleotide polymorphism array
OT  - Trisomy 2
COIS- Competing interestsThe authors declare that they have no competing interests.
EDAT- 2020/08/29 06:00
MHDA- 2020/08/29 06:01
PMCR- 2020/08/25
CRDT- 2020/08/29 06:00
PHST- 2020/04/16 00:00 [received]
PHST- 2020/07/17 00:00 [accepted]
PHST- 2020/08/29 06:00 [entrez]
PHST- 2020/08/29 06:00 [pubmed]
PHST- 2020/08/29 06:01 [medline]
PHST- 2020/08/25 00:00 [pmc-release]
AID - 504 [pii]
AID - 10.1186/s13039-020-00504-3 [doi]
PST - epublish
SO  - Mol Cytogenet. 2020 Aug 25;13:36. doi: 10.1186/s13039-020-00504-3. eCollection 
      2020.