Psychosocial Impact of Positive Newborn Screening

Dear Colleagues,

The purpose of newborn bloodspot screening (NBS) is identification of pre-symptomatic babies, as early identification and initiation of treatment improves long-term outcomes. Challenges exist in terms of communicating positive NBS results to families. This is partly due to variability in terms of the clinical spectrum in screen-positive cases; while most babies who receive a positive NBS result will later be confirmed as affected or where relevant, carriers of the condition screened for. Other outcomes include false-positive results, borderline results for congenital hypothyroidism (CHT) and the designation of cystic fibrosis (CF) screen-positive, inconclusive diagnosis (CFSPID). These outcomes can cause uncertainty for both parents and health care professionals. Consequently, communication to parents needs to be carefully crafted to minimize potentially harmful negative psychosocial sequelae.

Furthermore, early identification—particularly for babies who are asymptomatic—and inconclusive diagnoses can lead to a paradigm shift in terms of parental perceptions of illness and disease. This can be challenging for parents who may doubt their competence to recognize when their baby is unwell, and struggle with how the diagnosis fits with their perception of their baby’s identity. A positive NBS result often also leads to sudden, unexpected and extensive involvement of a range of health care professionals in the child and family’s life.

This Special Issue of the International Journal of Neonatal Screening on Psychosocial Impact of Positive Newborn Screening will focus on the potential impact of positive NBS on the child and their family, particularly when the outcome leads to a degree of uncertainty, and how this can potentially be managed to reduce associated negative psychosocial outcomes.

Dr. Jane Chudleigh
Guest Editor

Leah E. Hecht
Guest Editor Assistant

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