Parents' Experiences of Expanded Newborn Screening Evaluations

University of Rochester, School of Nursing, 601 Elmwood Ave, Box SON, Rochester, NY 14642, USA.
PEDIATRICS (Impact Factor: 5.3). 06/2011; 128(1):53-61. DOI: 10.1542/peds.2010-3413
Source: PubMed

ABSTRACT 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.
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.
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.
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.

  • [Show abstract] [Hide abstract]
    ABSTRACT: Congenital hypothyroidism (CH) is the most common endocrine disorder found in neonates (Grüters, A., Krude, H., (2011). Detection and treatment of congenital hypothyroidism. Nature Reviews. Endocrinology. Advance online publication. doi: 10.1038/nrendo). It is usually detected on the newborn screen and is a mandatory test in all states (Ball, J.W., & Bindler, R.C.,(2008). Pediatric Nursing Caring for Children. New Jersey: Pearson Prentice Hall.). If left untreated CH results in developmental delay, mental retardation and poor growth. Infants who are diagnosed in the first three months have the best prognosis for optimal mental development (Ball, J.W., & Bindler, R.C.,(2008). Pediatric Nursing Caring for Children. New Jersey: Pearson Prentice Hall.). Diagnostic testing and management, advantages and disadvantages, cost, test characteristics including sensitivity and specificity, interfering factors, ethical and legal considerations and a case study with continuing education questions are included.
    Journal of pediatric nursing 06/2013; 28(6). DOI:10.1016/j.pedn.2013.03.009 · 0.92 Impact Factor
  • Source
    [Show abstract] [Hide abstract]
    ABSTRACT: [LINK TO FULL PAPER:] In this article we review the literature regarding the public understanding of the potential benefits and burdens of expanded newborn bloodspot screening. We draw attention to broadened notions of benefit that go beyond early identification of asymptomatic individuals and resultant intervention to reduce morbidity or mortality, and include benefits gained by families through knowledge that may facilitate life choices, as well as gains generated by avoiding diagnostic delays. We also reflect on burdens such as increasing false-positive results and parental anxiety, together with risks of overdiagnosis when the natural history of a condition is poorly understood. We conclude that these expanded notions of benefit and burden bring with them implications for parental consent and confidentiality in the context of secondary use of residual bloodspots. Balancing benefits and burdens will be even more pertinent given technological advances that may permit whole exome or genome sequencing within newborn screening programs.
    Personalized Medicine 08/2014; 11(6):593-607. DOI:10.2217/pme.14.46 · 1.13 Impact Factor
  • [Show abstract] [Hide abstract]
    ABSTRACT: Advanced biomedical and genetic technologies are transforming newborn screening (NBS) programs. Nurses who work with families across perinatal care settings require knowledge of the policies that guide NBS practices and the controversies posed by the rapid application of genetic research to NBS. We provide an overview of NBS, outline challenges generated by expansion of NBS programs, and discuss implications for the nurses, nurse practitioners, and midwives in clinical practice, education, and research.
    Journal of Obstetric Gynecologic & Neonatal Nursing 10/2013; 42(6). DOI:10.1111/1552-6909.12252 · 1.20 Impact Factor