Implementation of non-invasive prenatal testing within a national UK antenatal screening programme: Impact on women's choices

Abstract

Objective: To evaluate the implementation of non-invasive prenatal testing (NIPT) on pregnant women's choices in a national NHS antenatal screening programme for Down's syndrome, Edwards' syndrome and Patau's syndrome.

Method: An observational study of all pregnant women with a singleton pregnancy and higher chance (≤1:150) combined or quadruple screening result from 30 April 2018 to 25 September 2020 in Wales, UK. Pregnant women's journey through the pathway was determined including uptake of NIPT, performance of NIPT in a non-research setting and invasive procedures performed.

Results: Of the 1273 women with a higher chance initial screening, 1073 (84%) chose NIPT contingent test, 174 (14%) no further testing and 26 (2%) invasive procedure. There were 1001 (93%) low chance NIPT results; 11 (1%) failed results and 61 (6%) high chance results. Average annual incidence of 27 invasive procedures undertaken compared to 229 pre-NIPT implementation, a nearly ninefold reduction. Down's syndrome annual live birth rate remained unchanged across the implementation period.

Discussion: This study demonstrates that NIPT contingent screening was highly acceptable to women with a resulting reduction in invasive procedures performed.

Conclusion: The high uptake of NIPT in NHS antenatal screening pathway conditions should inform planning for other national screening programmes.