作者: Stephen Morris , Saffron Karlsen , Nancy Chung , Melissa Hill , Lyn S Chitty
DOI: 10.1371/JOURNAL.PONE.0093559
关键词: Prenatal diagnosis 、 Cell-free fetal DNA 、 Total cost 、 Cost–benefit analysis 、 Chorionic villus sampling 、 Pediatrics 、 Population 、 Medicine 、 Down syndrome 、 Miscarriage 、 General Biochemistry, Genetics and Molecular Biology 、 General Agricultural and Biological Sciences 、 General Medicine
摘要: Background Non-invasive prenatal testing (NIPT) for Down’s syndrome (DS) using cell free fetal DNA in maternal blood has the potential to dramatically alter way screening and diagnosis is delivered. Before NIPT can be implemented into routine practice, information required on its costs benefits. We investigated outcomes of DS as contingent first-line compared with current programme UK National Health Service. Methods We used a pre-existing model evaluate associated programme. The analysis was based hypothetical population 10,000 pregnant women. Model inputs were taken from published sources. main outcome measures number cases detected, procedure-related miscarriages total cost. Results At risk cut-off 1∶150 detects slightly fewer cases, miscarriages, same (around UK£280,000) at cost £500 per NIPT. As more expensive than £50 When uptake increases, small increase costs. Conclusions NIPT currently available private sector price £400-£900. If NHS lower end this range then would neutral or saving screening. likely produce favourable but greater cost. Further research needed under real world conditions.