A qualitative assessment of parental experiences with false‐positive newborn screening for Krabbe disease

2021 ◽  
Author(s):  
Laiken Peterson ◽  
Amy Siemon ◽  
Leah Olewiler ◽  
Kim L. McBride ◽  
Dawn C. Allain
Keyword(s):  
Newborn Screening ◽  
False Positive ◽  
Krabbe Disease ◽  
Qualitative Assessment ◽  
Parental Experiences

Determination of psychosine concentration in dried blood spots from newborns that were identified via newborn screening to be at risk for Krabbe disease

2013 ◽  
Vol 419 ◽  
pp. 73-76 ◽  
Author(s):  
Wei-Lien Chuang ◽  
Josh Pacheco ◽  
X. Kate Zhang ◽  
Monica M. Martin ◽  
Chad K. Biski ◽  
...  
Keyword(s):  
At Risk ◽  
Newborn Screening ◽  
Dried Blood Spots ◽  
Krabbe Disease ◽  
Blood Spots

scholarly journals Newborn Screening for Congenital Adrenal Hyperplasia: Review of Factors Affecting Screening Accuracy

2020 ◽  
Vol 6 (3) ◽  
pp. 67 ◽  
Author(s):  
Patrice K. Held ◽  
Ian M. Bird ◽  
Natasha L. Heather
Keyword(s):  
United States ◽  
Congenital Adrenal Hyperplasia ◽  
Newborn Screening ◽  
False Positive ◽  
Primary Care Physicians ◽  
The United States ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
21 Hydroxylase Deficiency ◽  
Screening Accuracy

Newborn screening for 21-hydroxylase deficiency (21OHD), the most common form of congenital adrenal hyperplasia, has been performed routinely in the United States and other countries for over 20 years. Screening provides the opportunity for early detection and treatment of patients with 21OHD, preventing salt-wasting crisis during the first weeks of life. However, current first-tier screening methodologies lack specificity, leading to a large number of false positive cases, and adequate sensitivity to detect all cases of classic 21OHD that would benefit from treatment. This review summarizes the pathology of 21OHD and also the key stages of fetal hypothalamic-pituitary-adrenal axis development and adrenal steroidogenesis that contribute to limitations in screening accuracy. Factors leading to both false positive and false negative results are highlighted, along with specimen collection best practices used by laboratories in the United States and worldwide. This comprehensive review provides context and insight into the limitations of newborn screening for 21OHD for laboratorians, primary care physicians, and endocrinologists.

scholarly journals Incorporation of Second-Tier Biomarker Testing Improves the Specificity of Newborn Screening for Mucopolysaccharidosis Type I

2020 ◽  
Vol 6 (1) ◽  
pp. 10 ◽  
Author(s):  
Dawn S. Peck ◽  
Jean M. Lacey ◽  
Amy L. White ◽  
Gisele Pino ◽  
April L. Studinski ◽  
...  
Keyword(s):  
Newborn Screening ◽  
False Positive ◽  
Dermatan Sulfate ◽  
False Positive Rate ◽  
False Negative ◽  
Type I ◽  
Mucopolysaccharidosis Type ◽  
Mucopolysaccharidosis Type I ◽  
Second Tier ◽  
Mps I

Enzyme-based newborn screening for Mucopolysaccharidosis type I (MPS I) has a high false-positive rate due to the prevalence of pseudodeficiency alleles, often resulting in unnecessary and costly follow up. The glycosaminoglycans (GAGs), dermatan sulfate (DS) and heparan sulfate (HS) are both substrates for α-l-iduronidase (IDUA). These GAGs are elevated in patients with MPS I and have been shown to be promising biomarkers for both primary and second-tier testing. Since February 2016, we have measured DS and HS in 1213 specimens submitted on infants at risk for MPS I based on newborn screening. Molecular correlation was available for 157 of the tested cases. Samples from infants with MPS I confirmed by IDUA molecular analysis all had significantly elevated levels of DS and HS compared to those with confirmed pseudodeficiency and/or heterozygosity. Analysis of our testing population and correlation with molecular results identified few discrepant outcomes and uncovered no evidence of false-negative cases. We have demonstrated that blood spot GAGs analysis accurately discriminates between patients with confirmed MPS I and false-positive cases due to pseudodeficiency or heterozygosity and increases the specificity of newborn screening for MPS I.

scholarly journals The Combined Impact of CLIR Post-Analytical Tools and Second Tier Testing on the Performance of Newborn Screening for Disorders of Propionate, Methionine, and Cobalamin Metabolism

2020 ◽  
Vol 6 (2) ◽  
pp. 33 ◽  
Author(s):  
Dimitar K. Gavrilov ◽  
Amy L. Piazza ◽  
Gisele Pino ◽  
Coleman Turgeon ◽  
Dietrich Matern ◽  
...  
Keyword(s):  
Newborn Screening ◽  
False Positive ◽  
Health Care Expenditures ◽  
Positive Outcome ◽  
Molecular Testing ◽  
Second Tier ◽  
Multivariate Pattern ◽  
Recognition Software ◽  
Cobalamin Metabolism ◽  
Analytical Tools

The expansion of the recommend uniform screening panel to include more than 50 primary and secondary target conditions has resulted in a substantial increase of false positive results. As an alternative to subjective manipulation of cutoff values and overutilization of molecular testing, here we describe the performance outcome of an algorithm for disorders of methionine, cobalamin, and propionate metabolism that includes: (1) first tier screening inclusive of the broadest available spectrum of markers measured by tandem mass spectrometry; (2) integration of all results into a score of likelihood of disease for each target condition calculated by post-analytical interpretive tools created byCollaborative Laboratory Integrated Reports (CLIR), a multivariate pattern recognition software; and (3) further evaluation of abnormal scores by a second tier test measuring homocysteine, methylmalonic acid, and methylcitric acid. This approach can consistently reduce false positive rates to a <0.01% level, which is the threshold of precision newborn screening. We postulate that broader adoption of this algorithm could lead to substantial savings in health care expenditures. More importantly, it could prevent the stress and anxiety experienced by many families when faced with an abnormal newborn screening result that is later resolved as a false positive outcome.

False-positive newborn screening mimicking glutaric aciduria type I in infants with renal insufficiency

2009 ◽  
Vol 32 (S1) ◽  
pp. 355-359 ◽  
Author(s):  
Julia B. Hennermann ◽  
Sylvia Roloff ◽  
Jutta Gellermann ◽  
Annette Grüters ◽  
Jeannette Klein
Keyword(s):  
Renal Insufficiency ◽  
Newborn Screening ◽  
False Positive ◽  
Glutaric Aciduria Type ◽  
Type I ◽  
Glutaric Aciduria ◽  
Glutaric Aciduria Type I

Psychosine: A useful biomarker for newborn screening, follow up and monitoring of Krabbe disease

2018 ◽  
Vol 123 (2) ◽  
pp. S142
Author(s):  
Coleman Turgeon ◽  
Amy White ◽  
Dawn Peck ◽  
Gessi Bentz Pino ◽  
April Studinksi ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Krabbe Disease

scholarly journals Psychological Impact of NBS for CF

2020 ◽  
Vol 6 (2) ◽  
pp. 27 ◽  
Author(s):  
Jane Chudleigh ◽  
Holly Chinnery
Keyword(s):  
Cystic Fibrosis ◽  
Newborn Screening ◽  
Health Professionals ◽  
False Positive ◽  
Psychological Impact ◽  
Confirmatory Test ◽  
Test Results ◽  
Burden Of Care ◽  
Positive Results ◽  
Screening Result

Newborn screening for cystic fibrosis has resulted in diagnosis often before symptoms are recognised, leading to benefits including reduced disease severity, decreased burden of care, and lower costs. The psychological impact of this often unsought diagnosis on the parents of seemingly well children is less well understood. The time during which the screening result is communicated to families but before the confirmatory test results are available is recognised as a period of uncertainty and it is this uncertainty that can impact most on parents. Evidence suggests this may be mitigated against by ensuring the time between communication and confirmatory testing is minimized and health professionals involved in communicating positive newborn screening results and diagnostic results for cystic fibrosis to families are knowledgeable and able to provide appropriate reassurance. This is particularly important in the case of false positive results or when the child is given a Cystic Fibrosis Screen Positive, Inconclusive Diagnosis designation. However, to date, there are no formal mechanisms in place to support health professionals undertaking this challenging role, which would enable them to meet the expectations set out in specific guidance.

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