Non-invasive prenatal diagnosis (NIPD) for single gene disorders: cost analysis of NIPD and invasive testing pathways.

ABSTRACT:

Objective

Evaluate the costs of offering non-invasive prenatal diagnosis (NIPD) for single gene disorders compared to traditional invasive testing to inform NIPD implementation into clinical practice.

Method

Total costs of diagnosis using NIPD or invasive testing pathways were compared for a representative set of single gene disorders.

Results

For autosomal dominant conditions, where NIPD molecular techniques are straightforward, NIPD cost £314 less than invasive testing. NIPD for autosomal recessive and X-linked conditions requires more complicated technical approaches and total costs were more than invasive testing, e.g. NIPD for spinal muscular atrophy was £1090 more than invasive testing. Impact of test uptake on costs was assessed using sickle cell disorder as an

SUBMITTER: Verhoef TI 

PROVIDER: S-EPMC6680142 | biostudies-literature | 2016 Jul

REPOSITORIES: biostudies-literature