Bowden Bethan, de Souza Sikha, Puchades Alice, Williams Kindry, Morgan Sian, Anderson Sarah, Tucker David, Hillier Sharon
Screening Division, Public Health Wales, Cardiff, UK.
Swansea Bay Local Public Health Team, Public Health Wales, Swansea, UK.
Prenat Diagn. 2022 May;42(5):549-556. doi: 10.1002/pd.6131. Epub 2022 Mar 24.
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.
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.
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.
This study demonstrates that NIPT contingent screening was highly acceptable to women with a resulting reduction in invasive procedures performed.
The high uptake of NIPT in NHS antenatal screening pathway conditions should inform planning for other national screening programmes.
在英国国家医疗服务体系（NHS）针对唐氏综合征、爱德华兹综合征和帕陶氏综合征的产前筛查项目中，评估无创产前检测（NIPT）对孕妇选择的影响。
对2018年4月30日至2020年9月25日在英国威尔士所有单胎妊娠且合并或四联筛查结果显示风险较高（≤1:150）的孕妇进行观察性研究。确定孕妇在整个流程中的情况，包括NIPT的接受情况、在非研究环境下NIPT的执行情况以及所进行的侵入性检查。
在1273名初筛风险较高的女性中，1073名（84%）选择了NIPT后续检测，174名（14%）未进行进一步检测，26名（2%）选择了侵入性检查。NIPT结果显示低风险的有1001名（93%）；检测失败的有11名（1%），高风险的有61名（6%）。与NIPT实施前每年平均进行229例侵入性检查相比，实施后每年平均进行27例，减少了近9倍。在整个实施期间，唐氏综合征的年度活产率保持不变。
本研究表明，NIPT后续筛查对女性具有高度可接受性，同时减少了侵入性检查的实施。
NHS产前筛查流程中NIPT的高接受率应为其他国家筛查项目的规划提供参考。
