scholarly journals Spatial Distribution of Congenital Disorders Diagnosed by the Newborn Screening Program in Ecuador

Author(s):  
Juan Pozo-Palacios ◽  
Génesis García-Díaz ◽  
Fernando Cruz ◽  
Fabián Porras ◽  
Jessica Heras ◽  
...  
2021 ◽  
Vol 7 (2) ◽  
pp. 26
Author(s):  
Jaime E. Hale ◽  
Basil T. Darras ◽  
Kathryn J. Swoboda ◽  
Elicia Estrella ◽  
Jin Yun Helen Chen ◽  
...  

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.


2015 ◽  
Vol 2 ◽  
pp. 2333794X1456719 ◽  
Author(s):  
Xin Fan ◽  
Shaoke Chen ◽  
Jiale Qian ◽  
Suren Sooranna ◽  
Jingi Luo ◽  
...  

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.


PEDIATRICS ◽  
1989 ◽  
Vol 83 (5) ◽  
pp. 858-860
Author(s):  
Mary S. Harris ◽  
James R. Eckman

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).


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

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

Author(s):  
Dagmar Fredy Hernandez-Suarez ◽  
Jonnalie Tomassini-Fernandini ◽  
Angelica Cuevas ◽  
Anyelis Rosario-Berrios ◽  
Héctor Nuñez-Medina ◽  
...  

Background: Variations in several clopidogrel-pharmacogenes have been linked to clopidogrel response variability and clinical outcomes. We aimed to determine the frequency distribution of major polymorphisms on CYP2C19, PON1, ABCB1 and P2RY12 pharmacogenes in Puerto Ricans. Methods: This was a cross-sectional, population-based study of 200 unrelated “Guthrie” cards specimens from newborns registered in the Puerto Rican Newborn Screening program (PRNSP) between 2004 and 2014. Taqman® SNP assay techniques were used for genotyping. Results: Minor Allele Frequencies (MAF) were 46% for PON1 (rs662), 41% for ABCB1 (rs1045642), 14% for CYP2C19*17, 13% for CYP2C19*2, 12% for P2RY12-H2 and 0.3% for CYP2C19*4. No carriers of the CYP2C19*3 variants were detected. All alleles and genotype proportions were found to be in Hardy-Weinberg equilibrium (HWE). Overall, there were no significant differences between MAFs of these variants in Puerto Ricans and the general population (n=453) of the 1,000 Genome project, except for the Yoruba in Ibadan from Nigeria (YRI, West-African ancestry; p<0.05). As expected, the prevalence of these markers in Puerto Ricans most resembled those in the 181 subjects from reference populations of the Americas. Conclusions: These prevalence data provide a necessary groundwork for future clinical studies of clopidogrel pharmacogenetics in Caribbean Hispanics.


2018 ◽  
Vol 21 (3) ◽  
pp. 631-640 ◽  
Author(s):  
Melissa P. Wasserstein ◽  
Michele Caggana ◽  
Sean M. Bailey ◽  
Robert J. Desnick ◽  
Lisa Edelmann ◽  
...  

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