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)，即从母体血液中分析无细胞胎儿DNA(CffDNA)，已被证明在检测常见的胎儿三体方面比传统的血清筛查和超声波更可靠。由于NIPT的准确性更高，更少的孕妇将不得不接受带有流产风险的诊断性侵入性测试。分析cffDNA来检测三体在技术上具有挑战性，因为大多数孕妇的DNA背景中，孕妇血浆中含有少量高度碎片的cffDNA。开发或实施NIPT的公司和实验室非常需要准确模拟临床样本的参考标准，以验证他们不同的测试平台和方法，以确保在这一具有挑战性的样本类型上的准确测试性能。目前市场上还没有合适的NIPT参考材料，本项目旨在开发NIPT的参考标准，以便广泛实施准确的、非侵入性的早孕染色体异常筛查。可靠的NIPT结果将使接受侵入性检测的孕妇数量减少到只有检测结果呈阳性的孕妇。这将改善患者的预后，降低非整倍体怀孕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."