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

Megan Allyse,1 Mollie A Minear,2 Elisa Berson,3 Shilpa Sridhar,3 Margaret Rote,3 Anthony Hung,3 Subhashini Chandrasekharan4 1Institute for Health and Aging, University of California San Francisco, San Francisco, California, USA, 2Duke Science & Society, Duke University, Durham, NC, USA, 3Trinity College of Arts and Sciences, Duke University, Durham, NC, USA; 4Duke Global Health Institute, Duke University, Durham, NC, USA Abstract: Noninvasive prenatal genetic testing (NIPT) is an advance in the detection of fetal chromosomal aneuploidies that analyzes cell-free fetal DNA in the blood of a pregnant woman. Since its introduction to clinical practice in Hong Kong in 2011, NIPT has quickly spread across the globe. While many professional societies currently recommend that NIPT be used as a screening method, not a diagnostic test, its high sensitivity (true positive rate) and specificity (true negative rate) make it an attractive alternative to the serum screens and invasive tests currently in use. Professional societies also recommend that NIPT be accompanied by genetic counseling so that families can make informed reproductive choices. If NIPT becomes more widely adopted, States will have to implement regulation and oversight to ensure it fits into existing legal frameworks, with particular attention to returning fetal sex information in areas where sex-based abortions are prevalent. Although there are additional challenges for NIPT uptake in the developing world, including the lack of health care professionals and infrastructure, the use of NIPT in low-resource settings could potentially reduce the need for skilled clinicians who perform invasive testing. Future advances in NIPT technology promise to expand the range of conditions that can be detected, including single gene disorders. With these advances come questions of how to handle incidental findings and variants of unknown significance. Moving forward, it is essential that all stakeholders have a voice in crafting policies to ensure the ethical and equitable use of NIPT across the world. Keywords: noninvasive prenatal testing (NIPT), implementation, global, ethics, genetic testing, chromosome aneuploidie