Table 2 Main characteristics of included papers.
Authors (year) | Data collection | Data analysis | Country | Participants | Screening result |
|---|---|---|---|---|---|
Timmermans and Buchbinder (2010) [24] | Observations & open-ended interviews. | Modified grounded theory & analytical-induction tradition. | USA | Families (n = 55) of infants(total). 24 infants had uncertain results. | “Deeply ambiguous” newborn screening (NBS) results for various metabolic disorders [e.g. 3-methylcrotonyl-CoA carboxylase deficiency (3-MCC); medium chain acyl-coA dehydrogenase deficiency (MCADD)]. |
Timmermans and Buchbinder (2012) [25] | Observations. | Modified grounded theory & analytical-induction tradition. | USA | Families of clinic patients (n = 75) | Medium chain acyl-coA dehydrogenase deficiency (MCADD). |
DeLuca et al. (2011) [26] | Semi-structured open-ended interviews. | Qualitative content analysis. | USA | Parents (n = 44) (30 families) (total). 13 infants had uncertain results. | Equivocal NBS results included: persistently abnormal biochemical metabolites (eg. prolonged elevated tyrosine), molecular variants of uncertain significance (eg. isovaleric acidemia ‘NBS variant’), & enzyme deficiencies of uncertain clinical risk (eg. galactocerebrosidase deficiency [Krabbe disease]). |
Tluczek et al. (2010) [27] | Open-ended interviews (secondary analysis of interviews from larger mixed-methods study). | Grounded dimensional analysis. | USA | Parents (n = 10) of 5 infants. | Equivocal results for cystic fibrosis (CF) (abnormal NBS results plus two CF gene mutations and a normal or intermediate sweat test). |
Hayeems et al. (2017) [28] | Mixed-methods (questionnaire & semi-structured open-ended interviews). | Thematic analysis of interviews. | Canada | Parents (n = 20) of 18 infants (16 mothers, 2 couples). | Inconclusive results for cystic fibrosis (CF). |
Sadat et al. (2020) [29] | Mixed-methods (biomedical records; health status survey; Paediatric Inventory for Parents (PIP); interviews). | No qualitative analysis method for the interviews explictly specified. | USA | Parents of children (n = 60) (total). For interviews, parents of children (n = 18). | Short-chain acyl-CoA dehydrogenase deficiency (SCADD) or isobutyryl-CoA dehydrogenase deficiency (IBDD) |
Johnson et al. (2019) [31] | Semi-structured interviews. | Interpretative phenomenological analysis (IPA) | UK | Parents (n = 8) (5 families) (2 mothers, 3 couples). | Cystic fibrosis screen positive, inconclusive diagnosis (CFSPID). |
Kerruish (2011) [32] | Semi-structured interviews. | Interpretative phenomenological analysis (IPA) | New Zealand | Parents (n = 11) (9 mothers, 1 couple). | Increased genetic risk of type 1 diabetes (T1D) (“one in 16 risk compared to the general population risk of one in 300”). |
Tluczek et al. (2019) [30] | Mixed-methods (biomedical records; self-report scales; 10–15 min interviews consisting of 3 open-ended questions). | Content analysis of interviews. | USA | Parents (n = 110) (total). With uncertain results: parents (n = 20) of 16 children. | Intermediate cystic fibrosis (CF) classification (abnormal NBS results for CF & sweat chloride levels between 30 and 59 mmol/L). |
