Newborn Screening

Topics: Cystic fibrosis, Newborn screening, Parent Pages: 40 (10907 words) Published: February 4, 2013
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2947955/

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* Performing your original search, compliance of mothers on newborn screening, in PMC will retrieve 926 records. J Perinat Neonatal Nurs. Author manuscript; available in PMC 2010 October 1. Published in final edited form as:

J Perinat Neonatal Nurs. 2009 Oct–Dec; 23(4): 326–334. doi:  10.1097/JPN.0b013e3181a1bc1f
PMCID: PMC2947955
NIHMSID: NIHMS182350
Newborn Screening: An Appeal for Improved Parent Education
Audrey Tluczek, Ph.D.,1,2 Kate Murphy Orland, M.S.,1 Sara Wolfgram Nick, MPH,3 and Roger L. Brown, Ph.D.1,2 Author information ► Copyright and License information ► The publisher's final edited version of this article is available at J Perinat Neonatal Nurs See other articles in PMC that cite the published article. Go to:

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Abstract
Objective
The purpose of this study, which was part of a larger investigation of newborn screening (NBS) for cystic fibrosis (CF), was to learn how parents were informed about NBS and obtain their suggestions for improving the process of educating parents about NBS. Method

Qualitative study using directed and summative content analyses were conducted on 100 interviews with 193 parents of 100 newborns recruited from 4 clinical populations including parents of infants with (1) a CF diagnosis, (2) one CF mutation and therefore CF carriers (CF-C), (3) congenital hypothyroidism (CH), and (4) normal screening results (H). Results

Parents described much inconsistency in the timing of and methods used to inform them about NBS. Mothers with higher income were 3.69 times more likely to receive information before their infants' births than mothers with lower income. Parents recommended improving verbal and written communication with parents about NBS at multiple junctures from preconception to the infant's first few days of life. Parents suggested that providers take time to explain the purpose and importance of NBS, which diseases are included in testing, and when parents can expect results. Conclusion

These findings suggest a need to establish evidence-based guidelines for informing parent about NBS. Keywords: congenital hypothyroidism, content analysis, cystic fibrosis, newborn screening Go to:

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Newborn Screening
Newborn screening (NBS) programs have been identifying presymptomatic infants with genetic and/or metabolic disorders for more than 4 decades. Early detection facilitates the prompt initiation of treatment preventing morbidity and optimizing the health of countless affected infants. The combined advocacy of parents and professional organizations led to passage of the first state legislation in the 1960's that supported NBS for phenylketonuria (PKU).1 Since that time, there has been a steady increase in the number of disorders screened in NBS programs. As of January 2009, the average number of disorders screened in NBS programs was 43.4 with a range of 14 to 57 disorders nationwide.2 The growth of NBS programs has been attributed to the development of tandem mass spectrometry and more recently molecular genetics that make it possible to detect multiple metabolic conditions and genetic disorders from a small sample of blood obtained from a heel prick. Furthermore, the American Academy of Pediatrics, the Maternal and Child Health Bureau, and the American College of Medical Genetics have called for the expansion and standardization of NBS panels across the United States (U.S.).3 As the capacity to cost-effectively detect rare and serious illnesses increases, so too is the likelihood that the number of tests on NBS panels will continue to expand. Go to:

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Genetic Testing Adds Complexity to Newborn Screening
In 1994, cystic fibrosis (CF) became the prototype for introducing DNA...


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8. Ciske DJ, Haavisto A, Laxova A, et al. Genetic counseling and neonatal screening for cystic fibrosis: an assessment of the communication process. Pediatrics. 2001;107(4):669–705.
13. Hsieh HF, Shannon SE. Three Approaches to Qualitative Content Analysis. Qualitative Health Research. 2005 November;15(9):1277–1288. [PubMed]
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Genetic counseling and neonatal screening for cystic fibrosis: an assessment of the communication process.[Pediatrics. 2001]
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Newborn screening for cystic fibrosis: parents ' preferences regarding counseling at the time of infants ' sweat test.[J Genet Couns. 2006]
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Psychosocial risk associated with newborn screening for cystic fibrosis: parents ' experience while awaiting the sweat-test appointment.[Pediatrics. 2005]
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Challenges in implementing a successful newborn cystic fibrosis screening program.[J Pediatr. 2005]
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Information flow after a positive newborn screening for cystic fibrosis.[J Pediatr. 2005]
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Parental information use in the context of newborn bloodspot screening. An exploratory mixed methods study[Journal of Community Genetics. 2012]
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Newborn screening education on the internet: a content analysis of North American newborn screening program websites[Journal of community genetics. 2011]
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Genetic Screening[Epidemiologic Reviews. 2011]
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