PMID- 32902232
OWN - NLM
STAT- MEDLINE
DCOM- 20210621
LR  - 20210621
IS  - 1433-6510 (Print)
IS  - 1433-6510 (Linking)
VI  - 66
IP  - 9
DP  - 2020 Sep 1
TI  - A Quality Assurance Scheme for Prenatal Detection of Aneuploidy Based on 
      Developing Chimeric Quality-Control Cells.
LID - 10.7754/Clin.Lab.2020.200112 [doi]
AB  - BACKGROUND: The shortage of quality-control materials caused by non-renewable 
      utilization of rare disease samples is the key factor to limit the quality 
      control of prenatal molecular diagnosis. This study aimed to prepare aneuploid 
      amniocyte lines for the development of quality control cells for fluorescence in 
      situ hybridization (FISH)-mediated detection of aneuploidy. METHODS: Recombinant 
      SV40LTag-pcDNA3.1(-) vectors were transfected into 47,XY,+18 amniotic fluid cells 
      with the use of liposomes. After culturing, these cells were mixed with primary 
      amniocytes with the karyotype 46,XY to prepare four groups of chimeric quality 
      control cells comprising recombinant cells with the karyotypes 47,XY,+18 and 
      primary cells with 46,XY, with theoretical ratios of 47,XY,+18 cells at 5%, 10%, 
      20%, and 40%. Subsequently, the chimeric quality control cells were tested as 
      clinical samples by three technicians to examine their feasibility for use as 
      internal quality controls (IQC) for FISH detection. RESULTS: After being 
      immortalized by the SV40 large T antigen gene (SV40LT), these aneuploid 
      amniocytes can be cultured indefinitely to prepare chimeric quality control 
      cells. The actual ratio of the 47,XY,+18 cells was identified by FISH to be 1.5 +/- 
      1.1%, 10.3 +/- 1.0%, 19.9 +/- 0.4%, and 40.8 +/- 0.3%, respectively, and the 
      fluorescence signals of chromosomes 13, 18, 21, X, and Y in these cells were 
      consistent with that of the primary cells. CONCLUSIONS: The present study may 
      resolve the shortage of quality control cells in the prenatal detection of 
      chromosomal aneuploidy and may provide a foundation for IQC-based detection in 
      FISH.
FAU - Weng, Bing-Huan
AU  - Weng BH
FAU - Zhu, Dan-Hua
AU  - Zhu DH
FAU - Shen, Xiao-Yun
AU  - Shen XY
FAU - Yu, Xiao-Peng
AU  - Yu XP
FAU - Ying, Jun
AU  - Ying J
FAU - Li, Lan-Juan
AU  - Li LJ
LA  - eng
PT  - Journal Article
PL  - Germany
TA  - Clin Lab
JT  - Clinical laboratory
JID - 9705611
SB  - IM
MH  - *Aneuploidy
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Pregnancy
MH  - *Prenatal Diagnosis
MH  - Quality Control
EDAT- 2020/09/10 06:00
MHDA- 2021/06/22 06:00
CRDT- 2020/09/09 11:57
PHST- 2020/09/09 11:57 [entrez]
PHST- 2020/09/10 06:00 [pubmed]
PHST- 2021/06/22 06:00 [medline]
AID - 10.7754/Clin.Lab.2020.200112 [doi]
PST - ppublish
SO  - Clin Lab. 2020 Sep 1;66(9). doi: 10.7754/Clin.Lab.2020.200112.