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Updated: Oct 5, 2025
Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
Published on: August 25, 2019
[Preparation and evaluation of quality management samples for noninvasive prenatal screening]
Cechuan Deng1, Qian Zhu, Ting Bai
1Prenatal Diagnostic Center, Department of Medical Genetics, Key Laboratory of Birth Defects and Related Diseases of Women and Children of the Ministry of Education, West China Second Hospital, Sichuan University, Chengdu, Sichuan 610041, China. sunny630@126.com.
Objective:
To prepare a quality control sample for non-invasive prenatal screening (NIPS) and evaluate its quality and stability.
Methods:
According to the biological characteristics of cell-free fetal DNA derived from the plasma of pregnant women, the simulated samples were prepared by mixing genomic DNA fragments derived from individuals with trisomy 21, trisomy 18 and trisomy 13 and background plasma. The samples were then compared with commercially made quality control products tested on various NIPS platforms and stored at -80℃, -20℃, 4℃, 24℃ and 37℃ for various periods of time.
Results:
The simulated samples have attained the expected results and could be detected on various platforms and stored at -80℃and -20℃ for at least 30 days.
Conclusion:
A simulated sample was successfully prepared and possessed good stability. It can be used as the quality control sample for NIPS.
