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胎儿三体病方面比传统的血清筛查和超声波更可靠。由于NIPT的准确性较高，较少的孕妇将不得不进行有流产风险的诊断性侵入性测试。分析cffDNA以检测三体在技术上具有挑战性，因为在大多数母体DNA背景中，母体血浆中含有少量高度碎片化的cffDNA。开发或执行NIPT的公司和实验室非常需要准确模拟临床样品的参考标准，以验证其不同的测试平台和方法，以确保在这种具有挑战性的样品类型上准确的测试性能。目前市场上还没有合适的NIPT参考资料。本项目旨在制定NIPT的参考标准，以实现对早期妊娠染色体异常进行准确、无创筛查的广泛实施。可靠的NIPT结果将减少孕妇接受侵入性检查的数量，只有那些阳性的测试结果。这将改善患者的治疗效果，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."