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.

Preferences for prenatal tests for Down syndrome: an international comparison of the views of pregnant women and health professionals

“…22 With NIPT now available through commercial companies in more than 60 countries 8 and evaluation of implementation in the public sector underway, [23][24][25] this exploration of cross-cultural variation in women's and HPs' preferences for prenatal tests is timely. Overall, women placed greater emphasis on test safety and having comprehensive information than HPs, who placed more emphasis on accuracy and early testing than women.…”

“…Low-income countries will face additional challenges and focused research is needed. 8 Another limitation is that partner preferences were not included in the study. Their views are clearly important and may indeed differ from those of women.…”

“…Several USA and Hong Kong/China based companies now offer NIPT and have made their commercial tests widely available. 8 Uptake of NIPT, although frequently high, does vary between and within countries and a better understanding of what drives these differences is crucial to inform and optimise the prenatal testing services that are offered to women. Stakeholder viewpoints are essential to guide widespread implementation, especially in countries where NIPT will become part of a public healthcare programme.…”

Trial by Dutch laboratories for evaluation of non‐invasive prenatal testing. Part II—women's perspectives

“…Non‐Invasive Prenatal Testing (NIPT) for fetal aneuploidy has changed the landscape of prenatal screening worldwide 1. NIPT uses sequencing of cell‐free DNA (cfDNA) in maternal plasma to screen for trisomy 21, 18 and 13 with a high accuracy in both high‐ and low‐risk populations 2, 3.…”

Normal newborn with prenatal suspicion of X chromosome monosomy due to confined placental mosaicism

“…The highest rate of sensitivity is for Down (99 percent) and Edward (97-99 percent) syndromes and lower for Patau (87-99 percent) and Turner (92-95 percent) syndromes. 4 We present a case of extraordinary prenatal genetic test results (45, X [5] …”