Cost-effectiveness analysis of universal newborn screening for medium chain acyl-CoA dehydrogenase deficiency in France

Table 1 Value of the parameters used in the MCADD newborn screening cost-effectiveness analysis model

Parameter	Base-case value	Range for sensitivity analyses	References
MCADD birth prevalence	1/15 000	1/10 000–1/25 000	Expert judgement^*
Performances of MCADD screening test
Sensitivity	1		[28]
Specificity	0.9998	0.9997 – 1	[2, 4, 29–36]
Probability of MCADD complications
Death ≤ 72 hours of life	0.02	0.02 – 0.05^†	Expert judgement^*
Metabolic crisis	0.67	0.67 – 0.75	[37]
Death after a metabolic crisis	0.20	0.10 – 0.30	^‡[17, 38–44]
Severe sequelae^§	0.05	0 – 0.05	[38–41, 43–45]
Mild sequelae§	0.05	0 – 0.05	[38–41, 43–45]
Effectiveness of screening to prevent metabolic crisis	0.75	0.50 – 0.75	[17]
Life expectancy (years)
Normal	81		French census
Death after metabolic crisis	1.2		[46]
Severe sequelae	56		[47] See text
Mild sequelae	70		[47] See text
Heath-related quality of life
Not affected by MCADD	1	0.90 – 1	See text
Mild sequelae	0.89	0.89 – 0.92	[14]
Severe sequelae	0.76	0.50 – 0.76	[14]
Costs of screening test
Screening test (€) (tests/lab/year)^**	3.75 (50 000)	3.38 – 5.16 (60 000 – 30 000)	See text
Confirmatory test (€)	500		See text
Cost of treatment of uncomplicated MCADD and MCADD sequelae
L-carnitine (€)^††	6 065	0 – 12 130	See text
Medical consultations (€)^‡‡	888	888 – 1 264	See text
Metabolic crisis (€)	2 770	2 770 – 4 730	Database
Severe sequelae^§§	21 000	15 000 – 150 000	Database
Mild sequelae^§§	6 000	4 500 – 120 000	Database

^*Expert judgment based on available literature, see text.
^† Mortality within 24 hours of life is susceptible to be lower in the presence (2%) than in the absence (5%) of a screening programme because of better knowledge and awareness of the disease by clinicians.
^‡ Point estimate produced by pooling available literature data.
§ Neurological sequelae after a metabolic crisis.
^** The unit cost of the screening test depends on the annual number of tests per lab (shown in parentheses).
†† Cost of supplement in L-carnitine until the age of 18 shown, discounted. The proportion of patients treated is 50% in the base-case, ranging from 0% to 100% in the alternative scenarios.
‡‡ Cost of medical consultations discounted during the duration of life. The number of medical consultations per year in the absence of complication is two in the base-case analysis and five until the age of 6 then two during the remaining life in the alternative scenario.
§§ Annual cost includes special education and residential care. Lifetime costs were computed based on estimated life expectancies, see text.

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