Parental experience and information needs following a positive newborn screening test-based neonatal diagnosis of a chronic condition: an integrative review.

BACKGROUND

Preventive routine Newborn Screening for rare, chronic conditions, such as metabolic diseases, can lead to unexpected and sudden diagnoses within the first weeks of neonatal life. A child's chronic illness diagnosis is distressing for parents, who must learn to manage the condition at home and have high information needs during this time. Evidence on parental experiences of receiving a diagnosis following a positive Newborn Screening test and on their unmet needs is limited.

OBJECTIVE

To synthesize research knowledge on experiences and information needs of parents following positive Newborn Screening -based neonatal diagnosis of a chronic condition.

INFORMATION SOURCES: Electronic databases of information sources (PubMed, Livivo, Cochrane, CINAHL, and Embase) were searched.

METHODS

An integrative literature review was conducted using Whittemore and Knafl's methods. Search, selection and inclusion process was reported following PRISMA guidelines. Studies were included if they focused on experiences and information needs of parents after the diagnosis of a chronic condition following a positive Newborn Screening result. Publications published from inception until June 10th 2025 were included. Included articles were individually appraised for quality according to the Equator Guidelines: COREQ-32, STROBE, and JARS Mixed Tables. A Constant Comparative Analysis was used for data analysis and synthesis.

RESULTS

The systematic search yielded 3416 hits, of which 14 articles were included; these included eleven qualitative, one quantitative, and two mixed-method design studies. Analysis of the included articles revealed a multi-level process that parents go through. Findings were organized into two main categories: 'Feeling Overwhelmed' and 'Becoming Active'. Two subcategories described parental experiences: 'feeling shocked and going through many challenging emotions', 'urge to search for information to appraise severity', and 'focusing on actionable elements'. Moreover, three subcategories referred to parental information needs: 'Needing to understand with a limited ability to absorb' followed by 'Specialized Health Care Professional (HCP) as point of contact and the preferred information source', which consists of: 'Learning about practical aspects of condition management at home', and 'Learning about how to manage as a family'.

CONCLUSIONS

This review provides insights into parents' experiences and information needs following their neonate's diagnosis of a chronic condition after a positive Newborn Screening result. Parents require condition-specific information, psychosocial support from specialized HCPs, and accessible materials in various formats. Guidelines based on these findings can improve information provision and support for all families regardless of socioeconomic status or educational level, thereby enhancing access to quality essential healthcare services and health equity.

REGISTRATION: Not registered.