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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

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%

 

Costs

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