Adverse Medical Outcomes of Early Newborn Screening Programs for Phenylketonuria

Brosco, Jeffrey P.; Sanders, Lee; Seider, Michael I.; Dunn, Angela

doi:10.1542/peds.2007-3027

Cited by 22 publications

(16 citation statements)

References 41 publications

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“…30 Norman Fost claims that these errors in PKU testing caused brain damage and even death in some infants; 31 however, a subsequent study conducted found that there was insufficient evidence of such harm. 32 Importantly, modern rapid turnaround time for lab results, significant advances in the field of metabolic nutrition, and improved understanding about human metabolism together reduce the risk of potential harm from erroneous over-treatment for diseases like PKU. Despite this progress, there will continue to be risk involved in screening for new diseases where the phenotypic spectrum is not fully understood prior to the onset of screening.…”

Section: Ethical Concernsmentioning

confidence: 99%

Screening of Newborns for Disorders with High Benefit-Risk Ratios Should Be Mandatory

Kelly¹,

Makarem²,

Wasserstein³

2016

J. Law. Med. Ethics

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Newborn screening has evolved to include an increasingly complex spectrum of diseases, raising concerns that screening should be optional and require parental consent. Early detection of disorders like PKU and MCAD is essential to prevent serious disability and death in affected children. These are examples of high benefit-risk ratio disorders because of the irrefutable health benefits of early detection, coupled with the low risks of treatment. The dire consequences of not diagnosing an infant with a treatable disorder because of parental refusal to screen are wholly unacceptable. Thus, we believe that newborn screening for disorders with high benefit-risk ratios should continue to be mandatory.

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Section: Ethical Concernsmentioning

confidence: 99%

Screening of Newborns for Disorders with High Benefit-Risk Ratios Should Be Mandatory

Kelly¹,

Makarem²,

Wasserstein³

2016

J. Law. Med. Ethics

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“…Brase criticised the PKU test: ‘While the test has been beneficial to many babies, it has also caused devastating harm to other children, including nutritional deficiencies, death, and an increase in the number of children with mental retardation’ 19. Paediatric bioethicist Norman Fost proposed that the inaccuracy of the PKU test led to death and disability in a large number of children who otherwise would have been healthy,20 but a 2008 study published in Pediatrics found little evidence of such harm 21. Brase expressed the opinion, in need of further evidence, that a disproportionate number of infants developed mental retardation and disability due to test inaccuracy and maternal PKU syndrome 19.…”

Section: Criticism and Backlashmentioning

confidence: 99%

Two faces of patient advocacy: the current controversy in newborn screening

Arnold

2013

J Med Ethics

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Newborn screening programmes began in the 1960s, have traditionally been conducted without parental permission and have grown dramatically in the last decade. Whether these programmes serve patients' best interests has recently become a point of controversy. Privacy advocates, concerned that newborn screening infringes upon individual liberties, are demanding fundamental changes to these programmes. These include parental permission and limiting the research on the blood samples obtained, an agenda at odds with the viewpoints of newborn screening advocates. This essay presents the history of newborn screening in the USA, with attention to factors that have contributed to concerns about these programmes. The essay suggests that the rapid increase in the number of disorders screened for and the addition of research without either public knowledge or informed consent were critical to the development of resistance to mandatory newborn screening and research. Future newborn screening initiatives should include public education and comment to ensure continued support.

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“…Ultimately, a number of cases may be found to be false positive, causing increased parental stress and perturbed parental bonding and overreaction in the future [13] . When newborn screening for PKU was introduced, some infants with false-positive screening results were started on a phenylalanine-restricted diet, but apparently did not suffer from any adverse outcomes [14] . Although the number of disorders that are screened for vary from country to country, PKU is included in most if not all screening programs around the world [6,7] .…”

Section: Newborn Screening -Principles and General Commentsmentioning

confidence: 99%

Screening for Phenylketonuria

Bodamer¹

2010

Ann Nestlé [Engl]

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Newborn screening for phenylketonuria (PKU) started with Robert Guthrie (1916–1995) who developed the bacterial inhibition test for the semiquantitative analysis of phenylalanine, which was the first test suitable for high throughput analysis. In addition, he introduced the ‘Guthrie filter card’ as a transport medium for dried blood which is still used today. Realizing the potential of his approach for early diagnosis and the fact that a low-phenylalanine diet prevented the neurological sequelae of untreated PKU, Robert Guthrie became the first and utmost advocate of newborn screening for PKU. Following the first PKU newborn screening program in Buffalo, N.Y., USA, in the 1960s, additional newborn screening programs were initiated around the world in the 1960s and 1970s. Newborn screening has since been recognized as an important public health measure, and most countries have ongoing newborn screening programs for PKU and other inborn errors of metabolism. Since the first programs, it has been recognized that early diagnosis of PKU and subsequent initiation of a low phenylalanine diet results in normal neurological outcomes – in contrast to the severe mental retardation in untreated PKU. Today’s newborn screening laboratories use photometric assays or tandem mass spectrometry for analysis of phenylalanine rather than the bacterial inhibition test. This has led to an increased number of cases with hyperphenylalaninemia that often do not require dietary treatment. Any elevated phenylalanine level in a neonate needs to be followed by a second specimen for repeat analysis of phenylalanine and tyrosine. Confirmation of elevated phenylalanine levels with low to normal tyrosine levels requires analysis of urine pterines and dihydropterine reductase activity in red cells to rule out an inborn error of biopterin metabolism. In any neonate whose blood phenylalanine levels exceed 6 mg/dl, a tetrahydrobiopterin loading test should be performed and dietary therapy should be initiated. The level at which dietary therapy is started may be different between the USA, UK and continental Europe.

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Adverse Medical Outcomes of Early Newborn Screening Programs for Phenylketonuria

Cited by 22 publications

References 41 publications

Screening of Newborns for Disorders with High Benefit-Risk Ratios Should Be Mandatory

Screening of Newborns for Disorders with High Benefit-Risk Ratios Should Be Mandatory

Two faces of patient advocacy: the current controversy in newborn screening

Screening for Phenylketonuria

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