1.Concordance and pathogenicity of copy number variants detected by non-invasive prenatal screening in 38,611 pregnant women without fetal structural abnormalities.
Yunyun LIU ; Jing WANG ; Ling WANG ; Lin CHEN ; Dan XIE ; Li WANG ; Sha LIU ; Jianlong LIU ; Ting BAI ; Xiaosha JING ; Cechuan DENG ; Tianyu XIA ; Jing CHENG ; Lingling XING ; Xiang WEI ; Yuan LUO ; Quanfang ZHOU ; Ling LIU ; Qian ZHU ; Hongqian LIU
Chinese Medical Journal 2025;138(4):499-501
3.Preparation and evaluation of quality management samples for noninvasive prenatal screening.
Cechuan DENG ; Qian ZHU ; Ting BAI ; Ting HU ; Zhu ZHANG ; He WANG ; Shanling LIU
Chinese Journal of Medical Genetics 2022;39(2):176-180
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.
Aneuploidy
;
Down Syndrome/genetics*
;
Female
;
Humans
;
Noninvasive Prenatal Testing
;
Pregnancy
;
Prenatal Diagnosis
;
Trisomy/genetics*
Result Analysis
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