Secondary non-invasive prenatal screening for fetal trisomy: an effectiveness study in a public health setting

被引:11
作者
Guy, G. P. [1 ,2 ]
Hargrave, J. [1 ,3 ]
Dunn, R. [3 ]
Price, K. [3 ]
Short, J. [3 ]
Thilaganathan, B. [1 ,2 ,3 ]
机构
[1] St Georges Univ Hosp NHS Fdn Trust, Fetal Med Unit, Blackshaw Rd, London SW17 0RE, England
[2] St Georges Univ London, Vasc Biol Res Ctr, Mol & Clin Sci Res Inst, London, England
[3] St Georges Univ London, St Georges Antenatal Fetal Evaluat SAFE Lab, St Georges Hosp, London, England
关键词
Cell-free DNA; failed sample; fetal fraction; first-trimester screening; no-call rate; non-invasive prenatal testing; trisomy; 13; 18; 21; twin pregnancy; CELL-FREE DNA; MATERNAL BLOOD; IONA TEST; IMPACT;
D O I
10.1111/1471-0528.16464
中图分类号
R71 [妇产科学];
学科分类号
100211 ;
摘要
Objective To evaluate the effectiveness of secondary screening using non-invasive prenatal testing (NIPT) in a routine NHS setting including test performance, turn-around times (TATs) and no-call (failure to obtain result) rates. To examine the influence of maternal and fetal characteristics on test performance. Design Retrospective cohort. Setting London teaching hospital. Sample A total of 8651 pregnancies undergoing screening for fetal trisomy using NIPT provided by an NHS cell-free DNA screening laboratory - the SAFE laboratory. Methods Screening test evaluation and TATs. Univariate and multivariate logistic regression analysis to identify significant predictors of no-call results and reported by low fetal fraction (<2%), very high fetal fraction (>40%) and processing failure. Main outcome measures Test performance, TATs and no-call rates, factors affecting no-call results. Results Average TAT was 4.0 days (95% CI 4.0-4.2 days). Test sensitivities for trisomies 21 and 13/18 were 98.9% (95% CI 95.9-99.9%) and 90.4% (95% CI 80.0-96.8%), respectively. The overall no-call rate was 32/8651 (0.37%, 95% CI 0.26-0.52%). The overall risk of a no-call result was influenced by gestational age, dichorionic twin pregnancy, history of malignancy and pregnancies affected by trisomy 13/18, but not by maternal weight or use of low-molecular-weight heparin. Conclusions High-throughput NIPT can be effectively embedded into a public health NHS setting. TATs of 4 days and no-calls of <0.5% were well within clinically desirable tolerances. Gestational age, maternal weight, assisted reproductive techniques, use of low-molecular-weight heparin and past history of malignancy did not have major impacts on test no-call rates and should not constitute reasons for withholding the option of NIPT from women. Tweetable abstract Turn-around times of 4 days, no-call (test failure) rates of 0.37% and highly accurate NIPT can be successfully embedded in the NHS.
引用
收藏
页码:440 / 446
页数:7
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