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Updated: May 31, 2026
Assessment and Evaluation of the High Risk Neonate: The NICU Network Neurobehavioral Scale
Published on: August 25, 2014
Parents' experiences of expanded newborn screening evaluations
Jane M DeLuca1, Margaret H Kearney, Sally A Norton
1University of Rochester, School of Nursing, 601 Elmwood Ave, Box SON, Rochester, NY 14642, USA. jane_deluca@urmc.rochester.edu
Insights
Newborn screening for metabolic diseases causes parental distress. Improving communication and tailored counseling during diagnostic evaluations can reduce parental anxiety and enhance understanding of infant health outcomes.
Area of Science:
- Medical Genetics
- Pediatrics
- Public Health
Background:
- Abnormal newborn screening results for metabolic diseases cause significant parental distress.
- Diagnostic evaluations for less understood, newer disorders present unique challenges.
Purpose of the Study:
- To explore parental perceptions during diagnostic evaluations following abnormal newborn screening results.
- To identify areas for improving support for families undergoing newborn screening for metabolic disorders.
Main Methods:
- Qualitative content analysis of 48 open-ended interviews with 30 families.
- Interviews conducted before and/or after confirmatory test results for infants.
Main Results:
- Parents experienced shock and distress upon notification of abnormal results, with urgent information searches.
- Waiting for diagnostic results exacerbated anxiety; equivocal results created long-term health uncertainties.
- Despite information, some parents retained inaccurate ideas; most still valued newborn screening.
Conclusions:
- Newborn screening evaluations are highly stressful for parents.
- Enhanced communication, tailored counseling, and improved clinical services are needed.
- Comprehensive follow-up is crucial for infants with equivocal results.
Objective:
Abnormal results of newborn screening for common metabolic diseases are known to create substantial distress for parents. We explored parents' perceptions during diagnostic evaluations for newer disorders that are less well understood.
Methods:
Thirty families completed 48 open-ended interviews before and/or after parents received confirmatory test results for their infants. Qualitative content analysis was used to analyze the data.
Results:
Parents were shocked by the notification of the abnormal test result. Their urgent and often frustrating searches for information dominated the early phase of the screening process. Treatment center personnel were mainly informative and reassuring, but waiting for results exacerbated parents' distress. Equivocal results from diagnostic testing created uncertainties for parents regarding their infants' long-term health. After counseling, some parents reported inaccurate ideas about the disorders despite exposure to large amounts of information. Regardless of the challenges and anxieties of the evaluation, nearly every parent thought newborn screening was an important program for infant health.
Conclusions:
The evaluation of a newborn for an abnormal screening result was highly stressful for parents. To help reduce parents' distress, improvements in communications and clinical services are needed. Recommendations of useful Internet sites and discussions of this information may benefit parents. Tailoring counseling to meet the needs of culturally and educationally diverse families is needed. Families and infants with equivocal results are a new group of patients who merit comprehensive clinical follow-up.
