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YEX012 - Achieving cost savings in NIPT by enabling greater flexibility in blood collection tube choice

Non-invasive prenatal testing (NIPT) involves sequencing cell-free DNA (cfDNA) from maternal plasma to screen for fetal trisomy 21, 18, and 13, and in some instances other chromosomal abnormalities. Making NIPT routinely available has required the use of blood collection tubes (BCTs)that maintain the sample at ambient temperatures, whilst also retaining the integrity of the cell-free DNA (cfDNA) population. This allows for sample shipping without prior centrifugation and freezing, enabling efficient transport to centralised laboratory locations from sample collection clinics. Blood cells must be stabilised to prevent dilution of the fetal cfDNA portion with wild-type genomic DNA. Such sample degradation can result in low fetal fraction (<4%), which in turn causes screen failures or no calls (0.5-3% of samples) [1]. These failures drive up screening costs, and can impact the wellbeing of the pregnant mother or couple.

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