Reference standards to enable standardization and wide-spread implementation of non-invasive prenatal testing for chromosome aneuploidies

“非侵入性产前检测（NIPT），即对母体血液中无细胞胎儿DNA（cffDNA）的分析，已被证明在检测常见胎儿三体方面比传统的血清筛查和超声更可靠。由于NIPT的更高准确性，更少的孕妇将不得不经历具有流产风险的诊断侵入性测试CffDNA的分析用于检测三体在技术上是具有挑战性的，因为在大多数母体DNA背景中，母体血浆含有少量的高度片段化的CffDNA。开发或执行NIPT的公司和实验室非常需要能够准确模拟临床样本的参考标准，以验证其不同的测试平台和方法，从而确保对这种具有挑战性的样本类型进行准确的测试。目前市场上没有合适的NIPT参考物质，本项目旨在开发NIPT参考标准，以便广泛实施准确、无创的妊娠早期染色体异常筛查。可靠的NIPT结果将减少接受侵入性检测的孕妇人数，仅限于阳性检测结果的孕妇。这将改善患者的预后，降低非整倍体妊娠和活产的医疗保健和社会经济成本。"

"Non-invasive prenatal testing (NIPT), the analysis of cell-free fetal DNA (cffDNA) from the maternal blood, has proven to be more reliable in detecting common fetal trisomies than conventional serum screening and ultrasound. Due to the higher accuracy of NIPT, fewer pregnant woman will have to undergo diagnostic invasive testing which carries a risk of miscarriage.Analysis of cffDNA for detection of trisomies is technically challenging because the maternal plasma contains low amounts of highly fragmented cffDNA in a majority maternal DNA background. Companies and laboratories developing or performing NIPT are in great need of reference standards that accurately mimic clinical samples to validate their different testing platforms and methodologies to ensure accurate test performance on this challenging sample type. At present there is no appropriate reference material for NIPT on the market.This project aims to develop reference standards for NIPT to enable the widespread implementation of accurate, non-invasive screening for chromosomal abnormalities in early pregnancy. Reliable NIPT results will reduce the number of pregnant women undergoing invasive testing to those with a positive test result only. This will improve patient outcomes and reduce the healthcare and socio-economic costs of aneuploid pregnancies and live births."