Related Experiment Video
Updated: Aug 12, 2026
Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
Published on: August 25, 2019
[Application of real-time fluorescence quantitative polymerase chain reaction techniques for prenatal diagnosis of
Ming-ming Zheng1, Ya-li Hu, Zheng-feng Xu
1Department of Obstetrics and Gynecology, Affiliated Drum Tower Hospital, Nanjing University Medical School, Nanjing 210008, China.
Objective:
To investigate the value of real-time fluorescence quantitative PCR in diagnosis of Down syndrome with uncultured amniotic cells.
Methods:
The uncultured amniocytes of 80 fetuses who were confirmed disomy 21 by chromosome analysis and 5 fetuses detected trisomy 21 and peripheral blood samples of 7 children diagnosed as Down syndrome were collected to extract gDNA and the real-time fluorescence quantitative PCR method was used to detect the original copies of Down syndrome critical region gene(3) (DSCR(3)) and GAPDH gene and then the ratio of DSCR(3)/GAPDH was calculated.
Results:
The PCR product ratios of DSCR(3) to GAPDH in trisomy 21 from amniocytes and peripheral blood were ranged from 1.64 to 1.98 while in the normal control the ratio was only from 0.46 to 1.30.
Conclusion:
Real-time fluorescence quantitative PCR is a valuable method for rapid and accurate prenatal diagnosis of Down syndrome in uncultured amniotic cells.
More Related Videos
08:22A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene
Published on: September 16, 2019
09:30Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
Published on: August 17, 2022
Related Concept Videos
01:17Karyotyping
02:57Real Time RT-PCR
The real-time quantification of the number of amplified products is...