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

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: chromosome aneuploidies; ethics; genetic testing; global; implementation; noninvasive prenatal testing (NIPT).

Figure 1

Global availability of noninvasive prenatal genetic testing (NIPT). Notes: Countries where NIPT is currently marketed or in which marketing deals have been signed are presented. The list of countries was generated from Internet searches of press releases, company websites, industry trade reports, and newspapers/popular press articles between January 1, 2012 and April 30, 2014. The list is not exhaustive, as we relied only on publicly available information in English. Only commercial offerings of NIPT for chromosomal aneuploidies using cell-free fetal DNA are included. Numbered countries are as follows: 1) Portugal, 2) Ireland, 3) United Kingdom, 4) Norway, 5) Sweden, 6) Finland, 7) Denmark, 8) the Netherlands, 9) Luxembourg, 10) Belgium, 11) Germany, 12) Switzerland, 13) Liechtenstein, 14) Italy, 15) Austria, 16) Czech Republic, 17) Slovakia, 18) Hungary, 19) Slovenia, 20) Croatia, 21) Romania, 22) Bulgaria, 23) Albania, 24) Greece, 25) Tunisia, 26) Cyprus, 27) Lebanon, 28) Israel, 29) Jordan, 30) Kuwait, 31) Bahrain, 32) Qatar, and 33) United Arab Emirates.