scholarly journals Analyzing Patterns in NewSTEPs Site Review Recommendations: Practical Applications for Newborn Screening Programs

2019 ◽  
Vol 5 (1) ◽  
pp. 13 ◽  
Author(s):  
Yvonne Kellar-Guenther ◽  
Marci Sontag ◽  
Eric Linder ◽  
Sikha Singh ◽  
Ruthanne Sheller ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Technical Assistance ◽  
Screening Program ◽  
Quality Improvements ◽  
Practical Applications ◽  
Screening Programs ◽  
System A ◽  
Improvement Measures ◽  
Review Reports ◽  
State Programs

The Newborn Screening Technical assistance and Evaluation Program (NewSTEPs) conducts non-regulatory site reviews of state newborn screening programs in the US with the goal of providing comprehensive reports and recommendations to support quality improvements within the system. A detailed coding and qualitative analysis of data extracted from reports of seven programs visited between 2012 and 2017, of thirteen pre-site visit surveys completed by state newborn screening programs, and of information from interviews conducted with three site review experts revealed four common themes that exist across states within the national newborn screening system. These themes include opportunities to implement improvements in: (1) communications inside and outside of the state newborn screening program, (2) education, (3) information technology, and (4) operations. The cross-cutting recommendations provided by NewSTEPs within the comprehensive site review reports may prove valuable for all state programs to consider and to incorporate as quality improvement measures in the absence of a full site review. The analysis of the site review process and recommendations identified important opportunities for improvement, many of which were previously unknown to be common across programs, and also provided affirmation of known challenges.

scholarly journals Adrenoleukodystrophy Newborn Screening in California Since 2016: Programmatic Outcomes and Follow-Up

2021 ◽  
Vol 7 (2) ◽  
pp. 22
Author(s):  
Jamie Matteson ◽  
Stanley Sciortino ◽  
Lisa Feuchtbaum ◽  
Tracey Bishop ◽  
Richard S. Olney ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Program Implementation ◽  
Screening Program ◽  
Birth Prevalence ◽  
Variant Of Uncertain Significance ◽  
Implementation Challenges ◽  
Screening Programs ◽  
Uncertain Significance ◽  
Long Term Follow Up

X-linked adrenoleukodystrophy (ALD) is a recent addition to the Recommended Uniform Screening Panel, prompting many states to begin screening newborns for the disorder. We provide California’s experience with ALD newborn screening, highlighting the clinical and epidemiological outcomes observed as well as program implementation challenges. In this retrospective cohort study, we examine ALD newborn screening results and clinical outcomes for 1,854,631 newborns whose specimens were received by the California Genetic Disease Screening Program from 16 February 2016 through 15 February 2020. In the first four years of ALD newborn screening in California, 355 newborns screened positive for ALD, including 147 (41%) with an ABCD1 variant of uncertain significance (VUS) and 95 males diagnosed with ALD. After modifying cutoffs, we observed an ALD birth prevalence of 1 in 14,397 males. Long-term follow-up identified 14 males with signs of adrenal involvement. This study adds to a growing body of literature reporting on outcomes of newborn screening for ALD and offering a glimpse of what other large newborn screening programs can expect when adding ALD to their screening panel.

scholarly journals Universal Implementation of Newborn Screening in India

2020 ◽  
Vol 6 (2) ◽  
pp. 24 ◽  
Author(s):  
Thomas Mookken
Keyword(s):  
Newborn Screening ◽  
Congenital Hypothyroidism ◽  
Universal Screening ◽  
Screening Program ◽  
Developed Countries ◽  
Screening Programs ◽  
Successful Program ◽  
Personal Experiences ◽  
High Incidence ◽  
Glucose 6 Phosphate Dehydrogenase

Newborn screening is a successful program in many developed countries. In India, the benefits of dried blood spot screening have been recognized and that screening is slowly gaining traction. There are significant issues standing in the way of universal implementation of a newborn screening program in India: awareness, cost, advocacy, public policy, and politics. Three regional screening programs, Chandigarh, Goa, and Kerala could serve as models for other programs in India. The data for this commentary were based on personal experiences from managing public newborn screening programs, searches on PubMed and Google, and personal interactions with experts in the field. The overwhelming recommendation is to universally screen for congenital hypothyroidism in India, because it is easy and inexpensive to treat, with excellent outcomes. It would also be beneficial to consider screening universally for glucose-6-phosphate dehydrogenase deficiency due to its high incidence and ease of treatment. Finally, sickle cell disease should be screened in those areas in India where it is prevalent due to the costs associated with universal screening. Achieving universal screening is a challenge, and it is very difficult to predict when every baby born in India will be screened for at least congenital hypothyroidism.

scholarly journals The Prevalence of Phenylketonuria in Arab Countries, Turkey, and Iran: A Systematic Review

2018 ◽  
Vol 2018 ◽  
pp. 1-12 ◽  
Author(s):  
Ashraf El-Metwally ◽  
Lujane Yousef Al-Ahaidib ◽  
Alaa Ayman Sunqurah ◽  
Khaled Al-Surimi ◽  
Mowafa Househ ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Screening Program ◽  
Screening Method ◽  
Arab Countries ◽  
Screening Programs ◽  
Societal Burden ◽  
Disability Adjusted Life ◽  
Reporting Systems ◽  
Computer Based ◽  
Disability Adjusted Life Year

Background/Objectives. This paper seeks to identify the prevalence of Phenylketonuria (PKU) in Arab countries, Turkey, and Iran. The study reviewed the existence of comprehensive national newborn screening programs and reported consanguinity rates. Methods. A computer based literature search was conducted using relevant keywords to retrieve studies conducted on PKU. A total of 34 articles were included. Prevalence was categorized based on the type of screening method used for PKU diagnoses. Results. The prevalence of classical PKU diagnosed through a comprehensive national newborn screening program ranged from 0.005% to 0.0167%. The highest prevalence was reported in Turkey at 0.0167%, whereas the lowest prevalence was reported in the UAE, 0.005%. Conclusion. The findings of this review emphasize the need for the establishment of more efficient reporting systems in these countries that would help measure Disability-Adjusted Life Year (DALY) in order to estimate the overall societal burden of PKU.

scholarly journals How to Choose Diseases for Newborn Screening by Tandem Mass Spectrometry Under the Nationally Recommended Program in Shenzhen, China Evidence From a Cost-Effectiveness Analysis

2021 ◽  
Author(s):  
Mingren Yu ◽  
Juan Xu ◽  
Xiaohong Song ◽  
Jiayue Du
Keyword(s):  
Mass Spectrometry ◽  
Cost Effectiveness ◽  
Tandem Mass Spectrometry ◽  
Newborn Screening ◽  
Screening Program ◽  
Cost Effective ◽  
Tandem Mass ◽  
National Program ◽  
Screening Programs ◽  
The Cost

Abstract Background: Newborn screening (NBS) can prevent inborn errors of metabolism (IEMs), which may cause long-term disability and even death in newborns. However, in China, tandem mass spectrometry (MS/MS) screening has just started. This study is to determine the cost-effectiveness of NBS using MS/MS in Shenzhen under the nationally recommended program, and determine IEMs for detection.Methods: A Markov model was built to estimate the cost and quality-adjusted life-years (QALYs) of different screening programs. The current screening program and nationally recommended program were compared and we also compared the programs detecting different numbers of IEMs, which are chosen from the national program. A sensitivity analysis and budget impact analysis (BIA) were performed.Results: The incremental cost-effectiveness ratio (ICER) of detecting all 12 IEMs in the national program is 277,823 RMB per QALY, below three times per capita GDP in Shenzhen. MS/MS screening in Shenzhen can be cost-effective only if at least three diseases (PKU, PCD and MMA) are covered and when the screening program covers five diseases (PKU, PCD, MMA, MSUD, IVA), the ICER closely approaches its critical value. The BIA indicated the implementation cost of the national program to be around 580 million RMB over 10 years and showed no difference in budget between programs detecting different numbers of IEMs. Conclusions: We conclude that the newborn screening using MS/MS in Shenzhen is cost-effective, and the budget affordable for the Shenzhen government. Two concepts for selecting the IEMs to be detected, which we label the “ICER maximization idea” and the “ICER validation idea” are also presented.

Follow-up of Children With Trait in an Urban Setting

PEDIATRICS ◽  
1989 ◽  
Vol 83 (5) ◽  
pp. 878-878
Author(s):  
Lindsey K. Grossman ◽  
Neil A. Holtzman ◽  
Evan Charney ◽  
Allen D. Schwartz
Keyword(s):  
Genetic Counseling ◽  
Newborn Screening ◽  
Screening Program ◽  
Urban Setting ◽  
Newborn Screening Program ◽  
Screening Programs ◽  
Before And After

In a newborn screening program for abnormal hemoglobins, 91 infants were found to have hemoglobin AS or AC. Their parents were informed and offered genetic counseling, but only 350 accepted. We tested parents' knowledge of sickle disorders before and after the session. The tests were repeated when their babies were 4 to 8 months of age; parents of babies with normal hemoglobin and those with sickle trait who had not been counseled were also tested at this time. Parents who received counseling showed an increase in knowledge and retained it until the second interview, although 27% did not recall the original session. Noncounseled parents of a child with trait also had knowledge of the condition; in general, families of a child with trait knew more about the condition than families of a child without trait. Newborn hemoglobin screening programs prove helpful for certain families but not necessarily for all who may be eligible. (Previously published in Am J Dis Child 1985;139:241-244.)

scholarly journals Newborn Screening for Sickle Cell Disease: Indian Experience

2018 ◽  
Vol 4 (4) ◽  
pp. 31 ◽  
Author(s):  
Roshan Colah ◽  
Pallavi Mehta ◽  
Malay Mukherjee
Keyword(s):  
Sickle Cell Disease ◽  
Newborn Screening ◽  
Sickle Cell ◽  
Screening Program ◽  
Clinical Manifestations ◽  
Public Health Problem ◽  
Major Public Health Problem ◽  
Cell Disease ◽  
Screening Programs

Sickle cell disease (SCD) is a major public health problem in India with the highest prevalence amongst the tribal and some non-tribal ethnic groups. The clinical manifestations are extremely variable ranging from a severe to mild or asymptomatic condition. Early diagnosis and providing care is critical in SCD because of the possibility of lethal complications in early infancy in pre-symptomatic children. Since 2010, neonatal screening programs for SCD have been initiated in a few states of India. A total of 18,003 babies have been screened by automated HPLC using either cord blood samples or heel prick dried blood spots and 2944 and 300 babies were diagnosed as sickle cell carriers and SCD respectively. A follow up of the SCD babies showed considerable variation in the clinical presentation in different population groups, the disease being more severe among non-tribal babies. Around 30% of babies developed serious complications within the first 2 to 2.6 years of life. These pilot studies have demonstrated the feasibility of undertaking newborn screening programs for SCD even in rural areas. A longer follow up of these babies is required and it is important to establish a national newborn screening program for SCD in all of the states where the frequency of the sickle cell gene is very high followed by the development of comprehensive care centers along with counselling and treatment facilities. This comprehensive data will ultimately help us to understand the natural history of SCD in India and also help the Government to formulate strategies for the management and prevention of sickle cell disease in India.

scholarly journals Three years pilot of spinal muscular atrophy newborn screening turned into official program in Southern Belgium

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
François Boemer ◽  
Jean-Hubert Caberg ◽  
Pablo Beckers ◽  
Vinciane Dideberg ◽  
Samantha di Fiore ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Newborn Screening ◽  
Screening Program ◽  
Muscular Atrophy ◽  
The United States ◽  
Lessons Learned ◽  
European Medicines Agency ◽  
Pilot Program ◽  
Screening Programs ◽  
New Therapies

AbstractThree new therapies for spinal muscular atrophy (SMA) have been approved by the United States Food and Drug Administration and the European Medicines Agency since 2016. Although these new therapies improve the quality of life of patients who are symptomatic at first treatment, administration before the onset of symptoms is significantly more effective. As a consequence, newborn screening programs have been initiated in several countries. In 2018, we launched a 3-year pilot program to screen newborns for SMA in the Belgian region of Liège. This program was rapidly expanding to all of Southern Belgium, a region of approximately 55,000 births annually. During the pilot program, 136,339 neonates were tested for deletion of exon 7 of SMN1, the most common cause of SMA. Nine SMA cases with homozygous deletion were identified through this screen. Another patient was identified after presenting with symptoms and was shown to be heterozygous for the SMN1 exon 7 deletion and a point mutation on the opposite allele. These ten patients were treated. The pilot program has now successfully transitioned into the official neonatal screening program in Southern Belgium. The lessons learned during implementation of this pilot program are reported.

scholarly journals Value of Newborn Screening Programs for Severe Combined Immunodeficiency

2021 ◽  
Author(s):  
Elisa Pirozzi
Keyword(s):  
Newborn Screening ◽  
Screening Program ◽  
Severe Combined Immunodeficiency ◽  
Positive Family History ◽  
Cell Receptor ◽  
Screening Tests ◽  
Combined Immunodeficiency ◽  
Medical Progress ◽  
Screening Programs ◽  
Life Threatening

Severe Combined Immunodeficiency Disease (SCID) is life-threatening disease of infancy and childhood characterized by recurrent infections and failure to thrive. Given the modern medical progress made available for treating SCID, early identification of these children is paramount to their wellbeing and overall survival into adulthood. Newborn screening (NBS) programs provide the opportunity to identify SCID patients before life-threatening infections can manifest. The T-cell receptor excision circles (TRECs) assay currently used for SCID screening has been shown to satisfy all parameters of an effective screening test.  Its widespread use is indicated by the time-sensitive nature of the disease, its efficacy in reducing morbidity and mortality in these patients, and the cost-effectiveness of prompt recognition versus long-term management. While immensely beneficial, screening tests still hold limitations that require analyzing. Follow-up measures for SCID identification programs have identified ambiguity and inconsistency among testing algorithms across facilities and technical errors that have causes inaccurate results. Considering fewer than 20% of SCID patients report a positive family history and the lethal consequences of disease if left untreated, a screening program is a highly valuable tool for early diagnosis and prompt intervention.

scholarly journals Organizational issues of glaucoma diagnosis in Kazakhstan

2019 ◽  
Author(s):  
Neilya Aldasheva ◽  
Lyailya Tashtitova ◽  
Mukhit Kulmaganbetov
Keyword(s):  
Health Care ◽  
Health Care System ◽  
Screening Program ◽  
Corneal Thickness ◽  
Age Groups ◽  
Screening Programs ◽  
Organizational Issues ◽  
Normal Ranges ◽  
State Programs ◽  
Care System

Abstract Purpose Analysis of the organizational issues of the diagnosis of glaucoma in Kazakhstan and State programs for health care system: “Salamatty Kazakhstan” and “Densaulyk”. Methods The state of screening for glaucoma was included increased intraocular pressure (IOP) measurement and pachymetry, which was used for the corneal thickness examination. Although the IOP can be increased or be in the normal ranges, thin central cornea thickness generally was ignored by ophthalmologists. In this regard, the indications for examination for glaucoma with systemic hypotension during screening were expanded, and pachymetry was one of the essential diagnostic tool in the clinical guideline for the diagnosis and treatment of glaucoma as a mandatory research method. Results Sufficiency and effectiveness of the screening program was confirmed by the trend in the number of identified patients with glaucoma depending on age. Correlation between suspected glaucoma and age groups was exposed. The number of registered glaucoma patients was 43,337 patients in 2010. In contrast, after the screening program the figures raised to 68,195 people in 2016. Moreover, there was the increase of newly identified glaucoma cases by 49%: from 70.8 per 100 thousand populations in 2010 to 124 per 100 thousand populations in 2016. Conclusions State programs for health care system development in Republic of Kazakhstan "Salamatty Kazakhstan" (2011-2015) and "Densaulyk" (2016 – 2019) were the initial steps for the prevention of the irreversible blindness and disability due to glaucoma. Screening programs allow to timely and adequate diagnosis of the disease over 40 years of age.

scholarly journals Immunoquantification of α-Galactosidase: Evaluation for the Diagnosis of Fabry Disease

2004 ◽  
Vol 50 (11) ◽  
pp. 1979-1985 ◽  
Author(s):  
Maria Fuller ◽  
Melanie Lovejoy ◽  
Doug A Brooks ◽  
Miriam L Harkin ◽  
John J Hopwood ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Fabry Disease ◽  
Filter Paper ◽  
Screening Program ◽  
Galactosidase Activity ◽  
Lysosomal Storage ◽  
Screening Programs ◽  
Blood Spots ◽  
Enzyme Replacement ◽  
Saposin C

Abstract Background: Fabry disease is an X-linked inborn error of glycosphingolipid catabolism resulting from a deficiency of the lysosomal exoglycohydrolase, α-galactosidase. Enzyme replacement therapy is currently available for Fabry disease, but early diagnosis before the onset of irreversible pathology will be mandatory for successful treatment. Presymptomatic detection would be possible through the use of a newborn-screening program. We report on the use of sensitive assays for the measurement of α-galactosidase protein and activity and for the protein saposin C, which are diagnostic markers for Fabry disease. Methods: Two sensitive immunoassays for the measurement of α-galactosidase activity and protein were used to determine the concentrations of α-galactosidase in dried filter-paper blood spots and plasma samples from control patients and patients with a lysosomal storage disorder (LSD). Results: Fabry hemizygous individuals were clearly identified from control populations by decreases in both α-galactosidase activity and protein. Fabry heterozygotes generally fell between the hemizygotes and controls. Including the measurement of saposin C enabled differentiation between Fabry heterozygotes and controls. In blood spots, all Fabry individuals could be distinguished from control blood spots as well as from 16 other LSD patients. Conclusions: The determination of α-galactosidase activity or protein in dried filter-paper blood spots could be used for the diagnosis of Fabry patients. With further validation, these assays could be used for the identification of Fabry patients in newborn-screening programs and may also be suitable for screening high-risk populations.

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