Development of plasma quality control material for non-invasive prenatal detection of fetal aneuploidy
10.3760/cma.j.cn114452-20210607-00359
- VernacularTitle:无创产前检测胎儿染色体非整倍体中血浆质控物的研制
- Author:
Yan ZENG
1
;
Tao ZHANG
;
Yandi QIAN
;
Yuling GAO
;
Cheng XIONG
;
Yunqin NI
;
Tingting LUO
;
Lifang ZHANG
;
Feiyan QIAN
Author Information
1. 绍兴市妇幼保健院遗传实验室，绍兴312000
- Keywords:
Neonatal screening;
Plasma quality control product;
Non-invasive prenatal testing;
Aneuploidy;
Cell-free fetal DNA
- From:
Chinese Journal of Laboratory Medicine
2022;45(5):444-448
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To develop a self-made plasma quality control material for non-invasive prenatal testing (NIPT) and evaluate its performance.Methods:139 NIPT-negative maternal plasmas stored in the genetic department of Shaoxing maternal and child health hospital from January 1, 2019 to June 30, 2021 were divided into male groups (19 cases) and female groups (120 cases) according to the neonatal gender. 9360 cases from September 2020 to September 2021 were enrolled as clinical validation cases.First step, 200 μl plasma from a 47 years-old non-pregnant healthy women was used as a matrix. Different amounts (0.1, 0.2, 0.5, 2.5, and 5 μl) of positive DNA from fetal chromosome aneuploidy (T21, T18, T13) detection kit were added. The appropriate volume of positive DNA was 0.5 μl according to the test results. Second step,Plasma in male and female group was treated as matrix. 0.5 μl positive DNA was added per 205 μl. Plasma matrix from female group showed good repeatability and the sensitivity was 100%.Third step, evaluate the self-made plasma quality control material, including storage stability, matrix uniformity and repeatability, and the effect of different batch numbers of positive DNA, by calculating Z score and the CV of fetal DNA concentration (FF).Results:Plasma matrix from female group showed good repeatability and the sensitivity was 100%, while the sensitivity of male group was only 84%. The CV of FF in female matrix was 3.9% in the repetitive experiments. After adding 0.5 μl positive DNA, the mean FF of self-made positive plasma quality control was 5.63%±0.42%, Z values>6, and the CV was 7% after storage of three months. Considering the concentration variation of positive DNA in different lots, 1 μl of positive DNA should be added when the FF of positive DNA is lower than 10%.Used in 9360 clinical cases from September 2020 to September 2021, all positive plasma quality control materials showed positive results, and the positive predictive value of trisomy 21 was 100%.Conclusions:The NIPT self-made positive plasma quality control material has been successfully developed in this study. The preliminary experimental results show that it has good repeatability and stability, which is suitable for clinical application.
