KMCRIC

The growing acceptance and availability of cell-free DNA-based screening from maternal blood is having a dramatic impact on prenatal testing. One result has been the steady decline in the number of women choosing invasive testing, with growing shift away from karyotyping in favor of arrays, or in some cases sequencing, for analysis of these samples.
The range of approaches being employed for cell-free DNA testing continues to grow, including the release of kits for in-house analysis and so-called second generation assays that provide much improved detection of sub-chromosomal anomalies. There has been a push to expand NIPT use beyond higher-risk pregnancies, as well as extending the range of genetic conditions reported from the tests, but such changes come at a price.
Research into testing based on isolation of fetal cells from maternal blood has been underway for decades, and the discussion has been couched in terms of “if this approach can be commercialized”. At this meeting last year, for the first time, the conversation shifted to “when this approach is commercialized” as numerous groups reported substantial progress in achieving reliable isolation that would make this possible. Updated comparisons and examination of these issues, and the implementation of these different approaches, will again make for lively discussion and insight into where this field is headed and ways for researchers, test providers, clinicians and clinics to take these developments into consideration.