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

Prenatal 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:...

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Bibliographic Details
Published in:BMC pregnancy and childbirth 2020-11, Vol.20 (1), p.713-713, Article 713
Main Authors: Huang, Tianhua, Gibbons, Clare, Rashid, Shamim, Priston, Megan K, Bedford, H Melanie, Mak-Tam, Ellen, Meschino, Wendy S
Format: Article
Language:English
Subjects:
Adult
Age
Automation
Cell-Free Nucleic Acids
Costs and Cost Analysis
Counseling
Deoxyribonucleic acid
DNA
Down Syndrome - diagnosis
Female
Fetuses
Genomes
Humans
Laboratories
Maternal Serum Screening Tests - methods
Noninvasive Prenatal Testing - methods
Nuchal Translucency Measurement - methods
Ontario
Patient Acceptance of Health Care
Pregnancy
Pregnancy Trimester, First
Prenatal Diagnosis - methods
Womens health
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Summary:Prenatal 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. We 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. At 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 9 days 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. Reflex 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.
ISSN:1471-2393
1471-2393
DOI:10.1186/s12884-020-03394-w