Genetic Counseling

School of Health and Human Sciences

Evaluation of Parents’ Experiences When a Child Receives a Positive Newborn Screening Result for Mucopolysaccharidosis Type I (MPS I)
Capstone Project Committee: Kristin Clinar, MS, CGC, Cynthia Powell, MD,  Randi Stewart, MS, CGC
Newborn screening (NBS) aims to preventing death and disability through early detection, diagnosis, and intervention of a variety of conditions. However, receiving a positive screening result can be stressful and confusing for parents. Mucopolysaccharidosis type I (MPS I) has been added to the list of recommended conditions to be screened for in the United States. In order to improve parent support and inform recommendations for delivering abnormal NBS results for MPSI, parents of children who screened positive for MPS I on NBS were interviewed to explore their experiences with the follow-up process. Recruitment occurred via the North Carolina MPSI Pilot Study and National MPS Society. Seven parents were interviewed including two whose children received a true diagnosis of MPSI. Two authors utilized qualitative computer assisted analysis to code transcribed interviews. Themes were identified and organized into domains of follow-up process, knowledge and education, psychosocial impact and recommendations for follow-up. Results showed that parents did not recall being informed about NBS prior to the birth of their child and desired additional information about the NBS process in order to prepare for a positive screening result. Parents’ perceived that pediatricians lacked knowledge about MPS I, which caused anxiety and confusion for parents. Despite this, parents still reported satisfaction with the disclosing provider. Study participants preferred disclosure of positive NBS results from their pediatrician but desired more effective education regarding NBS for themselves and for disclosing providers and expediting steps in the follow up process in order to minimize negative emotions experience by parents.
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