# Psychosocial issues of neonatal screening in the context of its major expansion: a scoping review

## TL;DR

This review explores the psychosocial challenges that arise as newborn screening expands to detect more genetic conditions, especially those without known treatments.

## Contribution

The study identifies key psychosocial themes and constructs related to the expansion of newborn screening, emphasizing the need for improved education and support for parents and professionals.

## Key findings

- Parental anxiety and depression are common after abnormal or false-positive newborn screening results.
- Current education and training for healthcare professionals and the public are insufficient to address the psychosocial impacts of expanded screening.
- The concept of 'Vulnerable Child Syndrome' influences parental perceptions and caregiving practices following abnormal results.

## Abstract

Newborn screening (NBS) programs began in the 1960s in the US and Europe. Systematically offered at birth, these programs enable the early detection of serious, rare, inherited diseases, facilitating timely treatment and improving survival rates. The range of detectable diseases has expanded significantly, with inclusion criteria evolving since the programs’ inception. Recent advances in genomics now allow for the detection of all DNA variant, enabling the identification of conditions typically diagnosed later in life and/or for which no effective treatment or preventive interventions are currently available. This expansion raises ethical and psychosocial concerns.

To explore the psychosocial challenges associated with the expansion of NBS.

Between May 2022 and March 2024, a global scoping review was conducted using three databases and gray literature. PRISMA guidelines were followed, and thematic analysis was applied to synthesize findings.

Of 623 articles identified between 1997 and 2024, 68 met inclusion criteria, with nine additional gray literature references, for a total of 77 publications. Most studies originated from North America (n = 45) and Europe (n = 26), predominantly in healthcare sciences (n = 41), particularly medicine (n = 29), and in humanities and social sciences (n = 23), especially psychology (n = 14). The literature mainly addressed parents’ experiences during the early years following an abnormal NBS result; few studies explored healthcare professionals’ or patients’ perspectives. Three core thematic categories were identified: (1) parents’ experience of abnormal results and the impact on parent–child relationships; (2) strategies to mitigate psychosocial risks, including professional and public education; and (3) challenges related to NBS expansion.

These themes were interpreted as higher-level psychosocial constructs: (1) anxious and depressive dimensions of parental responses; (2) Vulnerable Child Syndrome as a construct shaping parental perceptions and caregiving practices; and (3) psychosocial implications of NBS expansion. Parental anxiety and depression were the most studied outcomes, particularly following abnormal or false-positive results. Current professional training and public education appear insufficient given rapid NBS evolution. Viewing NBS as a continuous process within family–healthcare relationships may help mitigate psychosocial risks.

Further research in psychology and social sciences is critical to better understand and address psychosocial risks, particularly for late-onset conditions and those without current treatment or prevention options.