Clinical utility and cost of non-invasive prenatal testing with cfDNA analysis in high-risk women based on a US population.
OBJECTIVE
Evaluate the clinical and economic consequences of fetal trisomy 21 (T21) screening with non-invasive prenatal testing (NIPT) in high-risk pregnant women.


METHODS
Using a decision-analytic model, we estimated the number of T21 cases detected, the number of invasive procedures performed, corresponding euploid fetal losses and total costs for three screening strategies: first trimester combined screening (FTS), integrated screening (INT) or NIPT, whereby NIPT was performed in high-risk patients (women 35 years or older or women with a positive conventional screening test). Modeling was based on a 4 million pregnant women cohort in the US.


RESULTS
NIPT, at a base case price of $795, was more clinically effective and less costly (dominant) over both FTS and INT. NIPT detected 4823 T21 cases based on 5330 invasive procedures. FTS detected 3364 T21 cases based on 108 364 procedures and INT detected 3760 cases based on 108 760 procedures. NIPT detected 28% and 43% more T21 cases compared to INT and FTS, respectively, while reducing invasive procedures by >95% and reducing euploid fetal losses by >99%. Total costs were $3786M with FTS, $3919M with INT and $3403M with NIPT.


CONCLUSIONS
NIPT leads to improved T21 detection and reduction in euploid fetal loss at lower total healthcare expenditures.
Ariosa Diagnostics, Inc., San Jose, CA, USA. ksong@ariosadx.com
Ken
K
Song
Thomas J
TJ
Musci
Aaron B
AB
Caughey
D000328:Adult; D002474:Cell-Free System; D003362:Cost-Benefit Analysis / Q000191:economics; D004314:Down Syndrome / Q000175:diagnosis* / Q000191:economics* / Q000453:epidemiology; D005260:Female; D006801:Humans; D008403:Mass Screening / Q000191:economics*; D062145:Maternal Serum Screening Tests / Q000191:economics*; D018803:Models, Economic; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011296:Prenatal Diagnosis / Q000191:economics*; D012307:Risk Factors; D017422:Sequence Analysis, DNA / Q000191:economics*; D014481:United States / Q000453:epidemiology