Evaluation of patient information leaflets for non-invasive prenatal testing for Down's syndrome

Non-invasive prenatal testing (NIPT) for Down's syndrome by analysis of cell-free DNA in maternal plasma is changing the way Down's syndrome screening (DSS) is offered in many countries. NIPT is procedurally safe for both mother and fetus, and can be conducted as early as 10 weeks gestation. It is highly accurate, with detection rates of 99.7% and false-positive rates of 0.04% for Down's syndrome in singleton pregnancies (Gil et al, 2017). Due to the small false positive rate, NIPT is considered an advanced screening test rather than a diagnostic test, and confirmation with invasive testing is recommended to confirm a positive result (Gregg et al, 2013; Royal College of Obstetricians and Gynaecologists, 2014; American College of Obstetricians and Gynecologists, 2015).

The need for accessible, high quality written information to facilitate informed decision-making is particularly acute given the potential for women to view NIPT as a routine test (de Jong et al, 2010; Alexander et al, 2015; Silcock et al, 2015; Hill et al, 2016). The importance of providing high quality written information about screening tests for Down's syndrome has also been emphasised by the NHS fetal anomaly screening programme (Public Health England, 2015). A recent study conducted in the USA evaluated the quality of commercially available patient information pamphlets describing NIPT for aneuploidy (Kloza et al, 2015). It concluded that none of the pamphlets addressed all of the recommendations suggested by professional organisations (Benn et al, 2013; Devers et al, 2013; Gregg et al, 2013; American College of Obstetricians and Gynecologists, 2015) and only scored adequately on a quality appraisal tool. In response, they developed their own patient information pamphlet for their patients, with six women reviewing it in focus groups. As far as the authors are aware, there is no patient information that has been developed and validated specifically for use within a public health care system. This is a concern, given the high expected uptake if the test becomes routinely available (Gil et al, 2015). The aim of this study was to develop a patient information leaflet (PIL) to support the future introduction of NIPT into the fetal anomaly screening programme (Department of Health, 2016). This article will describe the approach used to develop and validate the PIL to ensure delivery of information in a format that meets the needs of most women.