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

Abstract

BACKGROUND:

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.

METHODS:

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.

RESULTS:

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.

CONCLUSION:

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.

• Authors: Tianhua Huang, Clare Gibbons, Shamim Rashid, Megan K Priston, H Melanie Bedford, Ellen Mak-Tam, Wendy S Meschino
• Journal: BMC pregnancy and childbirth (BMC Pregnancy Childbirth) Vol. 20 Issue 1 Pg. 713 (Nov 23 2020) ISSN: 1471-2393 [Electronic] England
• PMID: 33228595 (Publication Type: Journal Article)

Chemical References

• Cell-Free Nucleic Acids

Topics

• Adult
• Cell-Free Nucleic Acids
• Costs and Cost Analysis
• Down Syndrome (diagnosis)
• Female
• Humans
• 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)