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.

Change in client choice under multiple prenatal genetic testing options including noninvasive prenatal testing (NIPT) after genetic counseling in a Japanese maternity hospital

“…Recently, as NIPT has become more widespread, a method of combining multiple tests has been reported. [19][20][21][22] In the UK, a method of incorporating NIPT into a highly accurate first-trimester morphological screening using US by certificates sonographers and serum marker testing is being explored. 20,22,23 Their method can be available after the consolidation of pregnant women, while in a country where antenatal checkup by obstetricians is provided only a few times during the pregnancy, and this method is currently not compatible in a country like Japan, where small facilities are dispersed.…”

“…[19][20][21][22] In the UK, a method of incorporating NIPT into a highly accurate first-trimester morphological screening using US by certificates sonographers and serum marker testing is being explored. 20,22,23 Their method can be available after the consolidation of pregnant women, while in a country where antenatal checkup by obstetricians is provided only a few times during the pregnancy, and this method is currently not compatible in a country like Japan, where small facilities are dispersed. In contrast, a study 24 conducted in Kumamoto, Japan, showed a scheme in which pregnant women who wanted prenatal genetic testing were first offered nuchal translucency US only, and then NIPT was suggested, if required, based on the results.…”

“…Recently, as NIPT has become more widespread, a method of combining multiple tests has been reported 19–22 . In the UK, a method of incorporating NIPT into a highly accurate first‐trimester morphological screening using US by certificates sonographers and serum marker testing is being explored 20,22,23 .…”

Spotlight on… antenatal genetic testing

“…After the introduction of NIPT for aneuploidy testing it was thought that the need for invasive diagnostic testing would decline very sharply; indeed, there has been a drop in CVS and amniocentesis procedures at fetal medicine units (FMUs), and studies have consistently shown that the majority of women with a high-chance screening result are more likely to opt for NIPT rather than invasive testing. 1 But NIPT cannot replace the need for evidence-based pretest and post-test counselling or accurate ultrasound scanning. Women with a raised nuchal translucency thickness in the first trimester need to be advised that the fetus not only has a higher risk of trisomy but is also at an increased risk of other genetic disorders that cannot be accurately tested for by NIPT, and may instead be amenable to prenatal diagnosis with a needle test (CVS/amniocentesis) and subsequent chromosomal microarray analysis, or exome sequencing (ES).…”

“…With new paradigms come new potential problems. After the introduction of NIPT for aneuploidy testing it was thought that the need for invasive diagnostic testing would decline very sharply; indeed, there has been a drop in CVS and amniocentesis procedures at fetal medicine units (FMUs), and studies have consistently shown that the majority of women with a high‐chance screening result are more likely to opt for NIPT rather than invasive testing 1 …”