scholarly journals The successful inclusion of succinylacetone as a marker of tyrosinemia type I in Tuscany newborn screening program

2009 ◽  
Vol 23 (23) ◽  
pp. 3891-3893 ◽  
Author(s):  
Giancarlo la Marca ◽  
Sabrina Malvagia ◽  
Silvia Funghini ◽  
Elisabetta Pasquini ◽  
Gloriano Moneti ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Screening Program ◽  
Type I ◽  
Newborn Screening Program ◽  
Tyrosinemia Type I

scholarly journals Implementing Statewide Newborn Screening for New Disorders: U.S. Program Experiences

2020 ◽  
Vol 6 (2) ◽  
pp. 35 ◽  
Author(s):  
Yvonne Kellar-Guenther ◽  
Sarah McKasson ◽  
Kshea Hale ◽  
Sikha Singh ◽  
Marci K. Sontag ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Screening Program ◽  
Muscular Atrophy ◽  
Survival Curve ◽  
Type I ◽  
Mucopolysaccharidosis Type I ◽  
Newborn Screening Program ◽  
Mps I ◽  
Insight Into

Data were collected from 39 newborn screening (NBS) programs to provide insight into the time and factors required for implementing statewide screening for Pompe, Mucopolysaccharidosis type I (MPS I), adrenoleukodystrophy (ALD), and Spinal Muscular Atrophy (SMA). Newborn screening program readiness to screen statewide for a condition was assessed using four phases: (1) approval to screen; (2) laboratory, follow-up, and information technology capabilities; (3) education; and (4) implementation of statewide newborn screening. Seventeen states (43.6%) reached statewide implementation for at least one new disorder. Those states reported that it took 28 months to implement statewide screening for Pompe and MPS I, 30.5 months for ALD, and 20 months for SMA. Using survival curve analysis to account for states still in progress, the estimated median time to statewide screening increased to 75 months for Pompe and 66 months for MPS I. When looking at how long each readiness component took to complete, laboratory readiness was one of the lengthier processes, taking about 39 months. Collaboration with other NBS programs and hiring were the most frequently mentioned facilitators to implementing newborn screening. Staffing or inability to hire both laboratory and follow-up staff was the most frequently mentioned barrier.

scholarly journals A pilot newborn screening program for Mucopolysaccharidosis type I in Taiwan

2013 ◽  
Vol 8 (1) ◽  
pp. 147 ◽  
Author(s):  
Shuan-Pei Lin ◽  
Hsiang-Yu Lin ◽  
Tuen-Jen Wang ◽  
Chia-Ying Chang ◽  
Chia-Hui Lin ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Screening Program ◽  
Type I ◽  
Mucopolysaccharidosis Type ◽  
Mucopolysaccharidosis Type I ◽  
Newborn Screening Program

scholarly journals Mucopolysaccharidosis Type I Disease Prevalence among Idiopathic Short Stature Patients in Saudi Arabia: A Multicenter, Cross-sectional, Study (Preprint)

2021 ◽  
Author(s):  
Danyah Alsafadi ◽  
Aly Ezzat ◽  
Fatima Altamimi ◽  
Marwan ElBagoury ◽  
Mohammed Olfat ◽  
...  
Keyword(s):  
Saudi Arabia ◽  
Newborn Screening ◽  
Short Stature ◽  
Screening Program ◽  
Idiopathic Short Stature ◽  
Accurate Estimation ◽  
Type I ◽  
Newborn Screening Program ◽  
Multicenter Studies ◽  
Cross Sectional

UNSTRUCTURED Background: Since the underlying cause of an idiopathic short stature, could be indeed an undiagnosed MPS type I patient, it will be critical to identify MPS type I patients amongst screened patients with idiopathic short stature. Therefore, the primary objective of this study is to determine the prevalence of MPS type I disease in the high-risk group (patients with idiopathic short stature). Methods: We planned to perform a multicenter, cross-sectional, screening study to primarily assess the prevalence of MPS type I disease in patients with idiopathic short stature. All eligible patients will be tested after obtaining written informed consent from their parents/guardians. Eligible patients will be recruited over 18 months from specialty care centers for pediatrics and genetics. A total of 800 patients was required for this study. Discussion: Saudi Arabia is the largest country in the Arabian Peninsula, with a population of more than 28 million. To date, there are no reliable data regarding the incidence or prevalence of MPS type I in Saudi Arabia, and future multicenter studies are needed. Besides, the prevalence of an attenuated form of MPS type I is largely underestimated in Saudi Arabia due to the absence of an effective newborn screening program. Therefore, the implementation of a nationwide newborn screening program is essential for accurate estimation of the burden of MPS and early diagnosis of the patients.

scholarly journals Massachusetts’ Findings from Statewide Newborn Screening for Spinal Muscular Atrophy

2021 ◽  
Vol 7 (2) ◽  
pp. 26
Author(s):  
Jaime E. Hale ◽  
Basil T. Darras ◽  
Kathryn J. Swoboda ◽  
Elicia Estrella ◽  
Jin Yun Helen Chen ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Newborn Screening ◽  
New England ◽  
Screening Program ◽  
Muscular Atrophy ◽  
Treatment Options ◽  
Newborn Screening Program ◽  
Treatment Protocols ◽  
Screening Algorithm ◽  
New Treatment

Massachusetts began newborn screening (NBS) for Spinal Muscular Atrophy (SMA) following the availability of new treatment options. The New England Newborn Screening Program developed, validated, and implemented a screening algorithm for the detection of SMA-affected infants who show absent SMN1 Exon 7 by Real-Time™ quantitative PCR (qPCR). We screened 179,467 neonates and identified 9 SMA-affected infants, all of whom were referred to a specialist by day of life 6 (average and median 4 days of life). Another ten SMN1 hybrids were observed but never referred. The nine referred infants who were confirmed to have SMA were entered into treatment protocols. Early data show that some SMA-affected children have remained asymptomatic and are meeting developmental milestones and some have mild to moderate delays. The Massachusetts experience demonstrates that SMA NBS is feasible, can be implemented on a population basis, and helps engage infants for early treatment to maximize benefit.

scholarly journals Incidence and Interrelated Factors in Patients With Congenital Hypothyroidism as Detected by Newborn Screening in Guangxi, China

2015 ◽  
Vol 2 ◽  
pp. 2333794X1456719 ◽  
Author(s):  
Xin Fan ◽  
Shaoke Chen ◽  
Jiale Qian ◽  
Suren Sooranna ◽  
Jingi Luo ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Congenital Hypothyroidism ◽  
Screening Program ◽  
Thyroid Stimulating Hormone ◽  
Who Guidelines ◽  
Newborn Screening Program ◽  
Study Results ◽  
Stimulating Hormone

Background. A newborn screening program (NSP) for congenital hypothyroidism (CH) was carried out in Guangxi in order to understand the incidence of CH and the factors interrelated to major types of CH in this region of China. Methods. During 2009 to 2013, data from 930 612 newborns attending NSP in Guangxi were collected. Patients were classified with either permanent CH (PCH) or transient CH (TCH) after 2 years of progressive study. Results. A total of 1210 patients were confirmed with CH with an incidence of 1/769, including 68 PCH and 126 TCH cases with incidences of 1/6673 and 1/3385, respectively. The frequency of thyroid stimulating hormone values greater than 5 mIU/L was 7.2%, which, based on WHO guidelines, suggests that the population was mildly iodine deficient. Conclusions. The incidence of CH was high in Guangxi. Approximately two thirds of CH patients were TCH, which may be due to a deficiency in iodine within the population.

APPROACHES TO SCREENING

PEDIATRICS ◽  
1989 ◽  
Vol 83 (5) ◽  
pp. 858-860
Author(s):  
Mary S. Harris ◽  
James R. Eckman
Keyword(s):  
Newborn Screening ◽  
Sickle Cell ◽  
Community Education ◽  
Sickle Cell Trait ◽  
Screening Program ◽  
Tertiary Care ◽  
The State ◽  
Public Health Department ◽  
Newborn Screening Program ◽  
Tertiary Care Centers

Georgia's newborn screening program for hemoglobinopathies has been evolving for more than 23 years. The program began in 1964 with the screening of infants at 6 months of age and progressed to the full-scale implementation of a statewide hemoglobinopathy newborn screening program in 1980. The program functions as a cooperative effort with several major components: two tertiary care centers, a community-based clinic, and the state public health department. The tertiary care centers consist of the Augusta Comprehensive Sickle Cell Center affiliated with the Medical College of Georgia and the Georgia Sickle Cell Center at Grady Hospital affiliated with Emory University School of Medicine. These two centers are responsible for patient care, education, and research. The community component consists of the Sickle Cell Foundation of Georgia, which is responsible for counceling clients with sickle cell trait, community education, and notification of parents of infants with normal test results. The state component consists of the Georgia Department of Human Resources, which is responsible for program administration and primary laboratory testing. The program components coordinate their services through a voluntary organization known as the Georgia Sickle Cell Task Force. The organization consists of representatives from agencies and organizations actively involved in the provision of services for patients with sickle cell disease. The members of this organization work together to ensure an efficient service network for education, testing, counseling, patient management, program monitoring, and evaluation. Georgia's screening program can best be described as a targeted, voluntary, mandatory screening program, which means that, unless the mother objects to having her infant tested on religious grounds, infants in 13 ethnic groups are automatically tested because they are considered at risk (African, Arabian, Central American, Greek, Maltese, Hispanic, Indian, Portuguese, Puerto Rican, Sardinian, Sicilian, South American, and Southern Asian).

scholarly journals Taiwan National Newborn Screening Program by Tandem Mass Spectrometry for Mucopolysaccharidoses Types I, II, and VI

2019 ◽  
Vol 205 ◽  
pp. 176-182 ◽  
Author(s):  
Min-Ju Chan ◽  
Hsuan-Chieh Liao ◽  
Michael H. Gelb ◽  
Chih-Kuang Chuang ◽  
Mei-Ying Liu ◽  
...  
Keyword(s):  
Mass Spectrometry ◽  
Tandem Mass Spectrometry ◽  
Newborn Screening ◽  
Screening Program ◽  
Tandem Mass ◽  
Newborn Screening Program
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