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

"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."