Abstract

The growing acceptance and availability of NIPT, based on next-gen sequencing of cell-free DNA 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 replacement of karyotyping by arrays or in some cases sequencing for analysis of these samples. For non-invasive testing there has been increased differentiation among the leading test service providers. 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. Testing based on isolation of fetal cells from maternal blood would provide an attractive alternative to testing of cell-free DNA, but the commercialization of this approach has faced a range of challenges. 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.