Prenatal screening for trisomy 21: a comparative performance and cost analysis of different screening strategies

被引:18
作者
Huang, Tianhua [1 ,2 ,3 ]
Gibbons, Clare [1 ,4 ]
Rashid, Shamim [1 ]
Priston, Megan K. [1 ]
Bedford, H. Melanie [1 ,5 ]
Mak-Tam, Ellen [1 ]
Meschino, Wendy S. [1 ,5 ]
机构
[1] North York Gen Hosp, Genet Program, 4001 Leslie St, Toronto, ON M2K 1E1, Canada
[2] Better Outcomes Registry & Network BORN, Prenatal Screening Ontario, Ottawa, ON, Canada
[3] Univ Toronto, Dept Obstet & Gynecol, Toronto, ON, Canada
[4] Univ Toronto, Dept Mol Genet, Toronto, ON, Canada
[5] Univ Toronto, Dept Paediat, Toronto, ON, Canada
关键词
Trisomy; 21; Multiple marker prenatal screening; Non-invasive prenatal screening; Cell-free fetal DNA screening; Cost and performance; CELL-FREE DNA; FREE FETAL DNA; HUMAN CHORIONIC-GONADOTROPIN; NUCHAL-TRANSLUCENCY; DOWN-SYNDROME; MATERNAL AGE; PLASMA-PROTEIN; TRISOMIES; CONTINGENT; ANEUPLOIDIES;
D O I
10.1186/s12884-020-03394-w
中图分类号
R71 [妇产科学];
学科分类号
100211 ;
摘要
BackgroundPrenatal screening for chromosome aneuploidies have constantly been evolving, especially with the introduction of cell-free fetal DNA (cfDNA) screening in the most recent years. This study compares the performance, costs and timing of test results of three cfDNA screening implementation strategies: contingent, reflex and primary.MethodsWe modelled enhanced first trimester screening (eFTS) as the first-tier test in contingent or reflex strategies. cfDNA test was performed contingent on or reflex from eFTS results. A comparison was made between cfDNA screening using sequencing technology and Rolling Circle Amplification (RCA)/imaging solution. All model assumptions were based on results from previous publications or information from the Ontario prenatal screening population.ResultsAt an eFTS risk cut-off of >= 1/1000, contingent and reflex cfDNA screening have the same detection rate (DR) (94%) for trisomy 21. Reflex cfDNA screening using RCA/Imaging solution provided the lowest false positive rate and cost. The number of women requiring genetic counselling and diagnostic testing was significantly reduced and women received their cfDNA screening result 9days sooner compared with the contingent model. While primary cfDNA screening improved the trisomy 21 DR by 3-5%, it was more costly and more women required diagnostic testing.ConclusionReflex cfDNA screening is the most cost-effective prenatal screening strategy. It can improve the efficiency of prenatal aneuploidy screening by reducing the number of patient visits and providing more timely results.
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页数:10
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