Clinical and Economic Impact of Adopting Noninvasive Prenatal Testing as a Primary Screening Method for Fetal Aneuploidies in the General Pregnancy Population

Abstract

Objective: To evaluate the clinical and economic impact of adopting noninvasive prenatal testing (NIPT) using circulating cell-free DNA as a first-line screening method for trisomy 21, 18, and 13 in the general pregnancy population. Methods: A decision-analytical model was developed to assess the impact of adopting NIPT as a primary screening test compared to conventional screening methods. The model takes the Belgium perspective and includes only the direct medical cost of screening, diagnosis, and procedure-related complications. NIPT costs are EUR 260. Clinical outcomes and the cost per trisomy detected were assessed. Sensitivity analysis measured the impact of NIPT false-positive rate (FPR) on modelled results. Results: The cost per trisomy detected was EUR 63,016 for conventional screening versus EUR 66,633 for NIPT, with a difference of EUR 3,617. NIPT reduced unnecessary invasive tests by 94.8%, decreased procedure-related miscarriages by 90.8%, and increased trisomies detected by 29.1%. Increasing the FPR of NIPT (from < 0.01 to 1.0%) increased the average number of invasive procedures required to diagnose a trisomy from 2.2 to 4.5, respectively. Conclusion: NIPT first-line screening at a reasonable cost is cost-effective and provides better clinical outcomes. However, modelled results are dependent on the adoption of an NIPT with a low FPR.

Non-invasive prenatal testing for aneuploidy screening

“…NIPT is available privately in most countries, with reimbursement rates varying between private medical insurers. Publicly funded NIPT provision differs between healthcare systems, with some countries, such as Belgium, funding primary NIPT screening for all pregnant women, while others, such as Switzerland, offer contingent screening 2526. In 2016 the UK National Screening Committee recommended a national evaluation of contingent NIPT screening for women who receive a high-chance (1:2 to 1:150) trisomy result on combined or quadruple screening 8.…”

The contingent use of cell-free fetal DNA for prenatal screening of trisomies 21, 18, 13 in pregnant women within a national health service: A budget impact analysis

“…Additionally, a recent publication about introduction of cffDNA-based first line screening shows better clinical outcomes when this is compared to standard of care screening. At the appropriate cost, it could be also a cost-effective solution [24].…”

Hücre-dışı Fetal DNA‘dan Gerçek-zamanlı PZR ile Fetal Rhesus D Tespitinin Maliyet Değerlendirmesi

“…Tüm bunlara ek olarak, hastanelerin gereksiz hasta iş yükünü ve invaziv bir girişim olan kordosentez uygulamasıyla oluşabilecek komplikasyon riskini (18) ortadan kaldırmaktadır. İnvazif olmayan fetal RhD genotipleme metodu kullanılarak fetüsün RhD durumunun erken belirlenmesi, RhD (-) gebelerde izlenecek gözlem ve müdahale yönetimini önemli ölçüde değiştirilmesine neden olacaktır (16,19). Uygun anti-D profilaksi sağlamak için testin tüm RhD (-) gebeler için sistematik bir şekilde kullanılması, gereksiz uygulanacak işlemle toplamında kişi başına 523,19 TL bir kazanç sağlayacaktır.…”