Expanded Newborn Screening Program in Saudi Arabia: Incidence of screened disorders

2017 ◽  
Vol 53 (6) ◽  
pp. 585-591 ◽  
Author(s):  
Majid Alfadhel ◽  
Ali Al Othaim ◽  
Saif Al Saif ◽  
Fuad Al Mutairi ◽  
Moeenaldeen Alsayed ◽  
...  
Keyword(s):  
Saudi Arabia ◽  
Newborn Screening ◽  
Screening Program ◽  
Newborn Screening Program ◽  
Expanded Newborn Screening

scholarly journals Parental intentions to enroll children in a voluntary expanded newborn screening program

2016 ◽  
Vol 166 ◽  
pp. 17-24 ◽  
Author(s):  
Ryan S. Paquin ◽  
Holly L. Peay ◽  
Lisa M. Gehtland ◽  
Megan A. Lewis ◽  
Donald B. Bailey
Keyword(s):  
Newborn Screening ◽  
Screening Program ◽  
Newborn Screening Program ◽  
Expanded Newborn Screening

scholarly journals AB133. Expanded newborn screening program in Thailand

2017 ◽  
Vol 5 (S2) ◽  
pp. AB133-AB133 ◽  
Author(s):  
Somporn Liammongkolkul ◽  
Kasinat Sanomcham ◽  
Nithiwat Vatanavicharn ◽  
Achara Sathienkijkanchai ◽  
Enzo Ranieri ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Screening Program ◽  
Newborn Screening Program ◽  
Expanded Newborn Screening

scholarly journals Expanded newborn screening program in Slovenia using tandem mass spectrometry and confirmatory next generation sequencing genetic testing

2020 ◽  
Vol 59 (4) ◽  
pp. 256-263
Author(s):  
Barbka Repič Lampret ◽  
Žiga Iztok Remec ◽  
Ana Drole Torkar ◽  
Mojca Žerjav Tanšek ◽  
Andraz Šmon ◽  
...  
Keyword(s):  
Mass Spectrometry ◽  
Next Generation Sequencing ◽  
Tandem Mass Spectrometry ◽  
Newborn Screening ◽  
Screening Program ◽  
Tandem Mass ◽  
Next Generation ◽  
Newborn Screening Program ◽  
Expanded Newborn Screening ◽  
Generation Sequencing

AbstractIntroductionIn the last two decades, the introduction of tandem mass spectrometry in clinical laboratories has enabled simultaneous testing of numerous acylcarnitines and amino acids from dried blood spots for detecting many aminoacidopathies, organic acidurias and fatty acid oxidation disorders. The expanded newborn screening was introduced in Slovenia in September 2018. Seventeen metabolic diseases have been added to the pre-existing screening panel for congenital hypothyroidism and phenylketonuria, and the newborn screening program was substantially reorganized and upgraded.MethodsTandem mass spectrometry was used for the screening of dried blood spot samples. Next-generation sequencing was introduced for confirmatory testing. Existing heterogeneous hospital information systems were connected to the same laboratory information system to allow barcode identification of samples, creating reports, and providing information necessary for interpreting the results.ResultsIn t he first y ear of t he expanded newborn screening a total of 15,064 samples w ere screened. Four patients were confirmed positive with additional testing.ConclusionsAn expanded newborn screening program was successfully implemented with the first patients diagnosed before severe clinical consequences.

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.

'We Needed This': Perspectives of Parents and Healthcare Professionals Involved in a Pilot Newborn Screening Program for Spinal Muscular Atrophy

2020 ◽  
Author(s):  
Didu Sanduni Thamarasa Kariyawasam ◽  
Arlene M. D'Silva ◽  
Janine Vetsch ◽  
Claire Wakefield ◽  
Veronica Wiley ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Newborn Screening ◽  
Healthcare Professionals ◽  
Screening Program ◽  
Muscular Atrophy ◽  
Newborn Screening Program

P015 Evaluation of the specificity and sensitivity of the cut-off values of immunoreactive trypsinogen in the cystic fibrosis newborn screening program

2021 ◽  
Vol 20 ◽  
pp. S43
Author(s):  
T. Ramasli Gursoy ◽  
P. Asfuroglu ◽  
T. Sismanlar Eyuboglu ◽  
A.T. Aslan ◽  
A.I. Yilmaz ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Newborn Screening ◽  
Screening Program ◽  
Newborn Screening Program ◽  
Specificity And Sensitivity ◽  
Immunoreactive Trypsinogen

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).

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