Long-term developmental outcomes of children identified through a newborn screening program with a metabolic or endocrine disorder: a population-based approach

2003 ◽  
Vol 143 (2) ◽  
pp. 236-242 ◽  
Author(s):  
Kim Van Naarden Braun ◽  
Marshalyn Yeargin-Allsopp ◽  
Diana Schendel ◽  
Paul Fernhoff
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.


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

2016 ◽  
Vol 4 (1) ◽  
pp. 1-218 ◽  
Author(s):  
David Field ◽  
Elaine Boyle ◽  
Elizabeth Draper ◽  
Alun Evans ◽  
Samantha Johnson ◽  
...  

BackgroundOur aims were (1) to improve understanding of regional variation in early-life mortality rates and the UK’s poor performance in international comparisons; and (2) to identify the extent to which late and moderately preterm (LMPT) birth contributes to early childhood mortality and morbidity.ObjectiveTo undertake a programme of linked population-based research studies to work towards reducing variations in infant mortality and morbidity rates.DesignTwo interlinked streams: (1) a detailed analysis of national and regional data sets and (2) establishment of cohorts of LMPT babies and term-born control babies.SettingCohorts were drawn from the geographically defined areas of Leicestershire and Nottinghamshire, and analyses were carried out at the University of Leicester.Data sourcesFor stream 1, national data were obtained from four sources: the Office for National Statistics, NHS Numbers for Babies, Centre for Maternal and Child Enquiries and East Midlands and South Yorkshire Congenital Anomalies Register. For stream 2, prospective data were collected for 1130 LMPT babies and 1255 term-born control babies.Main outcome measuresDetailed analysis of stillbirth and early childhood mortality rates with a particular focus on factors leading to biased or unfair comparison; review of clinical, health economic and developmental outcomes over the first 2 years of life for LMPT and term-born babies.ResultsThe deprivation gap in neonatal mortality has widened over time, despite government efforts to reduce it. Stillbirth rates are twice as high in the most deprived as in the least deprived decile. Approximately 70% of all infant deaths are the result of either preterm birth or a major congenital abnormality, and these are heavily influenced by mothers’ exposure to deprivation. Births at < 24 weeks’ gestation constitute only 1% of all births, but account for 20% of infant mortality. Classification of birth status for these babies varies widely across England. Risk of LMPT birth is greatest in the most deprived groups within society. Compared with term-born peers, LMPT babies are at an increased risk of neonatal morbidity, neonatal unit admission and poorer long-term health and developmental outcomes. Cognitive and socioemotional development problems confer the greatest long-term burden, with the risk being amplified by socioeconomic factors. During the first 24 months of life each child born LMPT generates approximately £3500 of additional health and societal costs.ConclusionsHealth professionals should be cautious in reviewing unadjusted early-life mortality rates, particularly when these relate to individual trusts. When more sophisticated analysis is not possible, babies of < 24 weeks’ gestation should be excluded. Neonatal services should review the care they offer to babies born LMPT to ensure that it is appropriate to their needs. The risk of adverse outcome is low in LMPT children. However, the risk appears higher for some types of antenatal problems and when the mother is from a deprived background.Future workFuture work could include studies to improve our understanding of how deprivation increases the risk of mortality and morbidity in early life and investigation of longer-term outcomes and interventions in at-risk LMPT infants to improve future attainment.FundingThe National Institute for Health Research Programme Grants for Applied Research programme.


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