Affordable Access

Access to the full text

Clinical and Economic Evaluation after Adopting Contingent Cell-Free DNA Screening for Fetal Trisomies in South Spain

Authors
  • Sainz, José A.
  • Torres, María R.
  • Peral, Ignacio
  • Granell, Reyes
  • Vargas, Manuel
  • Carrasco, Pilar
  • Garcia-Mejido, José A.
  • Santacruz, Belén
  • Gil, María M.
Type
Published Article
Journal
Fetal Diagnosis and Therapy
Publisher
S. Karger AG
Publication Date
Jul 13, 2020
Volume
47
Issue
10
Pages
749–756
Identifiers
DOI: 10.1159/000508306
PMID: 32659771
Source
Karger
Keywords
License
Green
External links

Abstract

Introduction: Contingent cell-free (cf) DNA screening on the basis of the first-trimester combined test (FCT) results has emerged as a cost-effective strategy for screening of trisomy 21 (T21). Objectives: To assess performance, patients’ uptake, and cost of contingent cfDNA screening and to compare them with those of the established FCT. Methods: This is a prospective cohort study including all singleton pregnancies attending to their FCT for screening of T21 at 2 university hospitals in South Spain. When the FCT risk was ≥1:50, there were major fetal malformations, or the nuchal translucency was ≥3.5 mm, women were recommended invasive testing (IT); if the risk was between 1:50 and 1:270, women were recommended cfDNA testing; and for risks bellow 1:270, no further testing was recommended. Detection rate (DR), false-positive rate (FPR), patients’ uptake, and associated costs were evaluated. Results: We analyzed 10,541 women, including 46 T21 cases. DR of our contingent strategy was 89.1% (41/46) at 1.4% (146/10,541) FPR. Uptake of cfDNA testing was 91.2% (340/373), and overall IT rate was 2.0%. The total cost of our strategy was €1,462,895.7, similar to €1,446,525.7 had cfDNA testing not been available. Conclusions: Contingent cfDNA screening shows high DR, low IT rate, and high uptake at a similar cost than traditional screening.

Report this publication

Statistics

Seen <100 times