National Institutes for Food and Drug Control (NIFDC), Beijing, China.
BGI-Shenzhen, Shenzhen, China.
Gynecol Obstet Invest. 2021;86(1-2):123-131. doi: 10.1159/000513472. Epub 2021 Mar 30.
The sequencing-based noninvasive prenatal testing (NIPT) has been successfully integrated into clinical practice and facilitated the early detection of fetal chromosomal anomalies. However, a comprehensive reference material to evaluate and quality control NIPT services from different NIPT providers remains unavailable.
In this study, we established a set of NIPT reference material consisting of 192 simulated samples. Most of the potential factors influencing the accuracy of NIPT, such as fetal fraction, mosaicism, and interfering substances, were included in the reference material. We compared the performance of chromosomal abnormalities detection on 3 widely used sequencers (NextSeq 500, BGISEQ-500, and Ion Proton) based on the reference material.
All 3 sequencers provided highly accurate and reliable results to samples with ≥3.5% fetal fractions and high percentage of mosaicism.
The established reference material can serve as a universal standard quality control for the current and new-coming NIPT providers based on various sequencers.
基于测序的无创产前检测（NIPT）已成功整合到临床实践中，有助于早期发现胎儿染色体异常。然而，仍然缺乏一种全面的参考材料来评估和质量控制来自不同 NIPT 提供者的 NIPT 服务。
在这项研究中，我们建立了一套由 192 个模拟样本组成的 NIPT 参考材料。参考材料中包含了影响 NIPT 准确性的大多数潜在因素，如胎儿比例、嵌合体和干扰物质。我们基于参考材料比较了三种常用测序仪（NextSeq 500、BGISEQ-500 和 Ion Proton）在检测染色体异常方面的性能。
所有三种测序仪对胎儿比例≥3.5%和高嵌合体百分比的样本都提供了高度准确和可靠的结果。
该建立的参考材料可作为当前和新出现的基于各种测序仪的 NIPT 提供者的通用标准质量控制。
