Non-invasive prenatal testing: A review of international implementation and challenges

Noninvasive prenatal genetic testing (NIPT) is an advance in the detection of fet chromosomal aneuploidies that analyzes cell-free fetal DNA in the blood of a pregnant woma Since its introduction to clinical practice in Hong Kong in 2 011, NIPT has quickly spread acro the globe. While many professional societies currently recommend that NIPT be used as a scree ing method, not a diagnostic test, its high sensitivity (true positive rate) and specifcity (tr negative rate) make it an attractive alternative to the serum screens and invasive tests current in use. Professional societies also recommend that NIPT be accompanied by genetic counse ing so that families can make informed reproductive choices. If NIPT becomes more wide adopted, States will have to implement regulation and oversight to ensure it fts into existin legal frameworks, with particular attention to returning fetal sex information in areas whe sex-based abortions are prevalent. Although there are additional challenges for NIPT uptake the developing world, including the lack of health care professionals and infrastructure, the u of NIPT in low-resource settings could potentially reduce the need for skilled clinicians wh perform invasive testing. Future advances in NIPT technology promise to expand the ran of conditions that can be detected, including single gene disorders. With these advances com questions of how to handle incidental fndings and variants of unknown signifcance. Movin forward, it is essential that all stakeholders have a voice in crafting policies to ensure the ethic and equitable use of NIPT across the world.