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Table 1 Key model inputs (base case)

From: The consequences of implementing non-invasive prenatal testing with cell-free foetal DNA for the detection of Down syndrome in the Spanish National Health Service: a cost-effectiveness analysis

Parameter Value Source
Pregnant population attending the NHS for pregnancy follow-up 78.40% Estimated from EUSTATa and ASPb
Twin pregnancies 2.30% ASP
Pregnant population rejecting the screening 0.01% ASP
Pregnant population stopping the screening 0.02% ASP
Prevalence of Down Syndrome 0.43% ASP
First and second trimester screening
1st and 2nd trimester screening uptake 78.38% Estimated
1st trimester screening tests performed 96.85% ASP
 Week 11 33% Estimated
 Week 12 34% Estimated
 Week 13 33% Estimated
2nd trimester screening tests performed 3.15% ASP
High-risk pregnant population (NT > 3.5 mm) for T21 0.41% ASP
 Prevalence of T21 1:10 Hulstaert et al. [20]
Sensitivity 89.75% ASP
Specificity 95.65% ASP
NIPT as first line screening uptake 78.38% Assumption
NIPT repeated 4% Hulstaert et al. [20]
NIPT without results (test failure) 2% Hulstaert et al. [20]
Sensitivity 99.30% Benn et al. [25]
Specificity 99.84% Benn et al. [25]
Invasive testing (CVS or amniocentesis)
IT rejected 4.82% ASP
Procedure-related fetal loss 0.69% ASP
Hospitalization for amniotic fluid leakage 1% Hulstaert et al. [20]
Sensitivity 100% Assumption
Specificity 100% Assumption
Pregnancy termination after T21 diagnosis 94% ASP
Miscarriage in the total pregnant population   Ammon Avalos et al. [19]
Week 10 5%  
Week 12 2.50%  
Week 14 1.50%  
Miscarriage in the T21 pregnant population   Snijders et al. [28]
Week 10 36%  
Week 12 30%  
Week 14 25%  
Primary care appointment with the midwife €24 2015 Osakidetza feesc
Collection of the blood sample €19 2015 Osakidetza fees
Management of the request for the blood test €5 2015 Osakidetza fees
PAPP-A €14 2015 Osakidetza fees
β-hCG €14 2015 Osakidetza fees
AFP €14 2015 Osakidetza fees
Ultrasound monitoring of amniocentesis procedure €338 2015 Osakidetza fees
Amniotic fluid karyotyping €451 2015 Osakidetza fees
CVS karyotyping €840 2015 Osakidetza fees
Unit cost of NIPT €550 Estimation
Pregnancy termination (DRG 381) €1825 2015 Osakidetza fees
Hospitalization due to amniotic fluid leakage (DRG 886) €1577 2015 Osakidetza fees
  1. AFP, alpha-fetoprotein; CVS, chorionic villus sampling; DRG, diagnosis-related group; IT, invasive tests; NT, Nuchal translucency; PAPP-A, pregnancy associated plasma protein A; β-hCG, free fraction of the β subunit of the human chorionic gonadotropin; T21, trisomy 21
  2. aBasque Statistics Institute (EUSTAT)
  3. bBasque Antenatal Screening Programme (ASP) for Down syndrome and other chromosome anomalies
  4. c2015 list of fees for invoicing healthcare and teaching services in the Basque Health Service, Osakidetza