An exploration of methods to enable equitable access to non-invasive prenatal screening

ABSTRACT Objective To explore capillary blood collection as a potential method to enable more equitable access to non-invasive prenatal screening (NIPS) for aneuploidy. Methods All participants contributed venous and capillary blood samples in this comparative study. Samples were analyzed using standard NIPS methods. Venous samples were used as the basis. Multiple parameters were compared including specimen collection, cfDNA characteristics, and NIPS outcome. Results Venous and capillary sample pairs were successfully collected for comparative analysis from 202 participants. Cell free DNA (cfDNA) size profiles from venous vs capillary blood were not different ( p >0.05). Evaluation of fetoplacental cfDNA contribution in plasma revealed no statistically significant difference in venous vs capillary samples. Elevated Z-scores for trisomy 21 (n=13), trisomy 18 (n=2), or trisomy 13 (n=1) were concordant between venous and capillary samples in all 16 pairs. Conclusion We have demonstrated that sufficient capillary blood volumes can be obtained for NIPS. Furthermore, capillary and venous cfDNA samples have comparable characteristics. As NIPS results from capillary blood collections are equivalent to NIPS results obtained from venous blood, capillary blood collections are a potential candidate for a distributable NIPS system which promotes equitable access to NIPS for all pregnant patients.