Women's choices in non-invasive prenatal testing for aneuploidy screening: results from a single centre prior to introduction in England.

OBJECTIVE

To evaluate patient choices and uptake of non-invasive prenatal testing (NIPT) for aneuploidy screening offered in a contingency model as part of routine care.

METHOD

We retrospectively reviewed data for all women with a singleton pregnancy attending for routine first trimester screening over an 18-month period. Women with a 'high-chance' of trisomy 21, 18 or 13 (≥1:150) were offered the choice of no further testing, NIPT or invasive testing, in line with the screening pathway recommended by the UK National Screening Committee.

RESULTS

Of 9342 women attending for a first trimester ultrasound scan, 7939 women were included in this study. Of these, 352 had a high-chance screening result for trisomy 21, and 291 (82.7%) opted for NIPT. The proportion of women opting for NIPT decreased as the chance of trisomy 21 increased: uptake was 93.2%, 90.0%, 77.1% and 47.2% for women with a chance of 1:100-150, 1:50-99, 1:10-49 and >1:10, respectively. 516 women (5.5%) accessed primary NIPT screening in the private sector, and 638 women (6.8%) declined any aneuploidy screening or testing.

CONCLUSION

Implementation of NIPT testing in a contingency model has a high uptake in a non-research National Health Service setting; the rate of uptake is related to the combined test risk result.