Our non-invasive prenatal screening (NIPS) tool, a novel approach to obtaining a peek at the whole fetal genome from maternal blood is undergoing preparation for validation. This protocol is the result of decades of intense research effort, and we couldn’t be more excited to see this work translated to meaningful answers for growing families.
The last five years has seen a paradigm shift in prenatal screening for common aneuploidies, with cell-free fetal DNA testing becoming a first-line strategy over maternal serum analyte screening, and even becoming more commonplace among higher risk pregnancies that might otherwise have been tested by amniocentesis or CVS. But cell-free fetal DNA has been seen as a compromise technology, offering only limited risk assessment for common aneuploidies using sophisticated probability calculations. Fragmented fetal DNA released into the maternal circulation is just not ideal for comprehensive assessment of the fetal genome, and offers only a limited view of chromosome errors.
The clinical genetics and obstetrics community has waited with bated breath for a technology that would allow isolation of whole fetal cells from maternal circulation, and offer a comprehensive view of the fetal genome.