Wellbeing Among Parents of an Infant With a Genetic Disorder: A Scoping Review

Parents of infants with genetic disorders face challenges that impact their wellbeing. While existing literature emphasizes parental emotional distress, less is known about the full spectrum of parental wellness experiences during infancy.

This scoping review aimed to synthesize research on wellbeing of parents of an infant diagnosed with a genetic disorder.

PubMed, CINAHL, PsycInfo, Embase, and Scopus were searched from December 2024 to January 2025.

Peer-reviewed articles written in English and published between 2015 and 2025 were included if they explored parental wellbeing within 1 or more wellness domain and included parents of a child with a diagnosed genetic disorder. Studies focused on child outcomes, genetic testing views, or scale development were excluded. Of 526 identified articles, 21 met inclusion criteria.

Following PRISMA-ScR guidelines, studies were screened and reviewed using systematic review software. Data were extracted using a standardized form.

Twenty-one articles from 10 countries were included, encompassing qualitative, quantitative, mixed methods, and scoping review designs. Experiences were categorized using the Swarbrick model, with wellbeing in each domain being categorized as diminished or enhanced. Most studies reported diminished wellbeing, with themes of distress, cognitive overload, social isolation, physical strain, employment disruption, and financial burden. Enhanced wellbeing, less frequently reported, included emotional growth, increased social connection, intellectual empowerment, and strengthened spiritual beliefs.

A holistic, strengths-based approach may be appropriate to support parental wellbeing, especially during infancy. Future research should explore wellbeing as an interconnected, multidimensional experience to inform more effective, comprehensive care.