Women’s Experiences and Preferences for Service Delivery of Non-Invasive Prenatal Testing for Aneuploidy in a Public Health Setting: A Mixed Methods Study

<div><p>Non-invasive prenatal testing (NIPT) for aneuploidy is currently only available in the UK through the private sector outside of the research arena. As part of an implementation study in the UK National Health Service we conducted a mixed methods study to assess women’s experience of being offered NIPT using validated measures of decisional conflict, decisional regret and anxiety. Clinical service preferences were also explored. Women with a Down syndrome screening risk >1:1000 were invited to take part in the study and offered NIPT, NIPT and invasive testing (for women with a risk above 1:150) or no further testing. A cross-sectional survey and semi-structured interviews were conducted at two time points; at the time of testing and one month following receipt of results (or equivalent for NIPT decliners). In total, 845 questionnaires and 81 interviews were analysed. The main motivation to accept NIPT was for reassurance (30.8%). Decisional conflict occurred in a minimal number of cases (3.8%), however, none of the participants experienced decisional regret. Around a third (29.9%) of women had elevated anxiety at the time of testing, including intermediate risk women who traditionally would not be offered further testing (54.4% high risk; 20.1% medium risk), a finding supported through the qualitative interviews where prolonged or additional anxiety was found to occur in some medium risk cases. Women were overwhelmingly positive about the opportunity to have a test that was procedurally safe, accurate, reduced the need for invasive testing and identified cases of Down syndrome that might otherwise have been missed. Reassurance was identified as the main motivator for accepting NIPT, particularly amongst medium risk women, with high risk women inclined to accept NIPT to inform decisions around invasive testing. The current turnaround time for test result was identified as a key limitation. All the women interviewed thought NIPT should be adopted as part of NHS clinical practice, with the majority favouring NIPT offered as a first-line test. Our study highlights the potential that NIPT has to positively impact women’s experience of prenatal testing for aneuploidy.</p></div

NIPT outcomes.

<p>NIPT outcomes.</p

Motivations for accepting/declining NIPT; most important test attribute for NIPT accepters; reasons why women declined DSS in a previous pregnancy.

<p>Motivations for accepting/declining NIPT; most important test attribute for NIPT accepters; reasons why women declined DSS in a previous pregnancy.</p

Summary of measures used in questionnaire.

<p>Summary of measures used in questionnaire.</p

Participant Characteristics.

<p>Participant Characteristics.</p

Model-Based Analysis of Costs and Outcomes of Non-Invasive Prenatal Testing for Down’s Syndrome Using Cell Free Fetal DNA in the UK National Health Service

<div><p>Background</p><p>Non-invasive prenatal testing (NIPT) for Down’s syndrome (DS) using cell free fetal DNA in maternal blood has the potential to dramatically alter the way prenatal screening and diagnosis is delivered. Before NIPT can be implemented into routine practice, information is required on its costs and benefits. We investigated the costs and outcomes of NIPT for DS as contingent testing and as first-line testing compared with the current DS screening programme in the UK National Health Service.</p><p>Methods</p><p>We used a pre-existing model to evaluate the costs and outcomes associated with NIPT compared with the current DS screening programme. The analysis was based on a hypothetical screening population of 10,000 pregnant women. Model inputs were taken from published sources. The main outcome measures were number of DS cases detected, number of procedure-related miscarriages and total cost.</p><p>Results</p><p>At a screening risk cut-off of 1∶150 NIPT as contingent testing detects slightly fewer DS cases, has fewer procedure-related miscarriages, and costs the same as current DS screening (around UK£280,000) at a cost of £500 per NIPT. As first-line testing NIPT detects more DS cases, has fewer procedure-related miscarriages, and is more expensive than current screening at a cost of £50 per NIPT. When NIPT uptake increases, NIPT detects more DS cases with a small increase in procedure-related miscarriages and costs.</p><p>Conclusions</p><p>NIPT is currently available in the private sector in the UK at a price of £400-£900. If the NHS cost was at the lower end of this range then at a screening risk cut-off of 1∶150 NIPT as contingent testing would be cost neutral or cost saving compared with current DS screening. As first-line testing NIPT is likely to produce more favourable outcomes but at greater cost. Further research is needed to evaluate NIPT under real world conditions.</p></div

Costs of testing strategies in a screening population of 10,000 pregnant women.

<p>69% uptake of DS screening using the combined test. 80% uptake of NIPT as contingent screening for unaffected pregnancies and 90% for affected.</p><p>pregnancies. 69% uptake of NIPT as first-line screening.</p><p>*Including procedural miscarriages. DS  =  Down’s syndrome; NIPT  =  non-invasive prenatal testing</p

Key model inputs.

<p>*For both unaffected and DS affected pregnancies.</p><p>**As for invasive diagnostic tests.</p><p>***As for DS screening. DS  =  Down’s syndrome; NT  =  nuchal translucency; CVS  =  chorionic villus sampling; QF-PCR  =  Quantitative Fluorescence Polymerase Chain Reaction; TOP  =  termination of pregnancy; DR  =  detection rate; FPR  =  false positive rate</p

Outcomes of testing strategies in a screening population of 10,000 pregnant women.

<p>69% uptake of DS screening using the combined test. 80% uptake of NIPT as contingent screening for unaffected pregnancies and 90% for affected pregnancies. 69% uptake of NIPT as first-line screening.</p><p>DS  =  Down’s Syndrome; NIPT  =  non-invasive prenatal testing.</p

Key model inputs.

<p>*For both unaffected and DS affected pregnancies.</p><p>**As for invasive diagnostic tests.</p><p>***As for DS screening. DS  =  Down’s syndrome; NT  =  nuchal translucency; CVS  =  chorionic villus sampling; QF-PCR  =  Quantitative Fluorescence Polymerase Chain Reaction; TOP  =  termination of pregnancy; DR  =  detection rate; FPR  =  false positive rate</p