Table 4.

Thematic framework of benefits and harms adopted by health economic assessments evaluating antenatal and newborn screening programmes (abridged version).

Theme no.	Theme	Description	Key selected examples
1	Diagnosis of screened for condition	Related to the process of identifying a condition through screening. For example, cases diagnosed or missed, confirmatory tests (necessary and unnecessary), reduction in infants born with condition through effective treatment, or pregnancy termination	Infants born with condition Confirmatory test and additional tests to reach diagnosis of screened for condition Cases missed at screening Cases diagnosed at screening Screened for condition related complications Additional screening of partners Additional testing to reach diagnosis in the absence of screening (links to diagnostic odyssey)
2	Life years and health status adjustments	Impact of identifying a condition on the health of women, infants and other family members and included, for example, standard health measures such as QALYs, disability-adjusted life years (DALYs), life years, or impact of anxiety on parents after a false positive result	Infant life years post birth (including QALYs) Maternal life years (including QALYs) Parental QALYs Psychological (anxiety/disutility from false positive results, genetic variants of unclear penetrance, or knowledge of disease)
3	Treatment	Caused by harms of adverse reactions, unnecessary interventions and antibiotic resistance, or benefits of adverse complications averted due to timely interventions	Comparison of earlier treatment after screen detection and later after symptomatic detection Additional healthcare post-diagnosis Hospital stay Missed due to false negative Prevention of screened for condition (infectious) Psychological (counselling about screening/confirmatory test/genetic diagnosis) Screened for condition related treatment/management treatment related harm (disutility/anxiety/adverse reaction/antibiotic resistance)< Unnecessary due to false positive
4	Long-term cost associated with screened for condition	Impact on long-term healthcare and non-healthcare costs related to identifying a condition through screening.	Direct healthcare cost Direct non-healthcare cost (education/social care/caregiving) Productivity gains Societal cost
5	Overdiagnosis	Impact on costs and consequences of detecting a condition that would never develop into symptomatic disease.	QALY decrement Unnecessary test/treatment
6	Pregnancy loss	Caused by treatment or an invasive diagnostic procedure, or an informed decision of termination after a true positive result	Spontaneous Termination (of unaffected fetus due to false positive test result/prevent downstream adverse maternal outcomes/psychological consequences) Treatment/test related
7	Spillover effects	Benefits or harms to parents and other relevant stakeholders from the child's diagnosis	Benefits or harms to parents from child's diagnosis with genetic condition, through knowledge of their own genetic status