无创DNA产前筛查质量管理样本的制备与评价  

Preparation and evaluation of quality management samples for noninvasive prenatal screening

作　　者：邓测川 祝茜[1] 白婷 胡婷[1] 张竹[1] 王和[1] 刘珊玲[1] Deng Cechruan;Zhu Qian;Bai Ting;Hu Ting;Zhang Zhu;Wang He;Liu Shanling(Prenatal 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 Unirversity,Chengdu,Sichuan 610041,China)

机构地区：[1]四川大学华西第二医院医学遗传科/产前诊断中心出生缺陷与相关妇儿疾病教育部重点实验室,成都610041

出　　处：《中华医学遗传学杂志》2022年第2期176-180,共5页Chinese Journal of Medical Genetics

基　　金：国家重点研发计划(2018YFC1002203);四川省科技厅重点研发项目(2021YFS0078)。

摘　　要：目的建立无创DNA产前筛查(noninvasive prenatal screening,NIPS)质量管理样本的制备方法,并对制备的样本进行质量及稳定性评价。方法基于孕妇血浆中胎儿游离DNA的特点,将核型为21号染色体三体、18号染色体三体和13号染色体三体的片段化基因组DNA分别与背景血浆混合制备出人工模拟样本,与商品化质控品进行对比,并在不同的检测平台进行检测,再分别在-80℃、-20℃、4℃、24℃和37℃条件下保存。结果人工模拟样本结果与预期相符,可以在不同平台进行检测,可在-80℃和-20℃条件下保存至少30天。结论成功制备了人工模拟样本,并证实该样本具有良好的稳定性,可以考虑将其作为NIPS的质量管理样本。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℃,40℃,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.

关 键 词：非整倍体 游离DNA 无创产前筛查 质量管理 

分 类 号：R714.5[医药卫生—妇产科学]