neonatal screening

Summary

Summary: The identification of selected parameters in newborn infants by various tests, examinations, or other procedures. Screening may be performed by clinical or laboratory measures. A screening test is designed to sort out healthy neonates (INFANT, NEWBORN) from those not well, but the screening test is not intended as a diagnostic device, rather instead as epidemiologic.

Top Publications

  1. ncbi Screening newborns for inborn errors of metabolism by tandem mass spectrometry
    Bridget Wilcken
    New South Wales Newborn Screening Programme, The Children s Hospital at Westmead, Sydney, NSW, Australia
    N Engl J Med 348:2304-12. 2003
  2. ncbi Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria
    Thomas P Mechtler
    Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria
    Lancet 379:335-41. 2012
  3. ncbi Glucose-6-phosphate dehydrogenase deficiency neonatal screening: preliminary evidence that a high percentage of partially deficient female neonates are missed during routine screening
    G J Reclos
    R and D Diagnostics Ltd, R and D Department, Holargos, Greece
    J Med Screen 7:46-51. 2000
  4. ncbi Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project
    David M S McHugh
    Mayo Clinic College of Medicine, Rochester, Minnesota, USA
    Genet Med 13:230-54. 2011
  5. ncbi The tandem mass spectrometry newborn screening experience in North Carolina: 1997-2005
    D M Frazier
    Division of Genetics and Metabolism, Department of Pediatrics, University of North Carolina, Chapel Hill, 27599, USA
    J Inherit Metab Dis 29:76-85. 2006
  6. ncbi Projected cost-effectiveness of statewide universal newborn hearing screening
    Ron Keren
    Department of Medicine, Children s Hospital, Boston, Massachusetts, USA
    Pediatrics 110:855-64. 2002
  7. ncbi Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications
    Andreas Schulze
    Division of Metabolic and Endocrine Diseases, Department of General Pediatrics, University Children s Hospital, Heidelberg, Germany
    Pediatrics 111:1399-406. 2003
  8. ncbi Early diagnosis of cystic fibrosis through neonatal screening prevents severe malnutrition and improves long-term growth. Wisconsin Cystic Fibrosis Neonatal Screening Study Group
    P M Farrell
    University of Wisconsin Medical School, Madison, Wisconsin, USA
    Pediatrics 107:1-13. 2001
  9. pmc Congenital hypothyroidism
    Maynika V Rastogi
    Department of Pediatrics, Division of Endocrinology, Oregon Health and Science University, 707 SW Gaines Street, Portland, OR, USA
    Orphanet J Rare Dis 5:17. 2010
  10. ncbi Neonatal screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in The Netherlands: the importance of enzyme analysis to ascertain true MCAD deficiency
    T G J Derks
    Division of Metabolic Diseases, Beatrix Children s Hospital, University Medical Center Groningen, University of Groningen, PO Box 30 001, 9700 RB, Groningen, The Netherlands
    J Inherit Metab Dis 31:88-96. 2008

Research Grants

Detail Information

Publications381 found, 100 shown here

  1. ncbi Screening newborns for inborn errors of metabolism by tandem mass spectrometry
    Bridget Wilcken
    New South Wales Newborn Screening Programme, The Children s Hospital at Westmead, Sydney, NSW, Australia
    N Engl J Med 348:2304-12. 2003
    ..We examined the effect of the screening of newborns by tandem mass spectrometry on the rates of diagnosis of 31 disorders...
  2. ncbi Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria
    Thomas P Mechtler
    Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria
    Lancet 379:335-41. 2012
    The interest in neonatal screening for lysosomal storage disorders has increased substantially because of newly developed enzyme replacement therapies, the need for early diagnosis, and technical advances...
  3. ncbi Glucose-6-phosphate dehydrogenase deficiency neonatal screening: preliminary evidence that a high percentage of partially deficient female neonates are missed during routine screening
    G J Reclos
    R and D Diagnostics Ltd, R and D Department, Holargos, Greece
    J Med Screen 7:46-51. 2000
    ....
  4. ncbi Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project
    David M S McHugh
    Mayo Clinic College of Medicine, Rochester, Minnesota, USA
    Genet Med 13:230-54. 2011
    ..To achieve clinical validation of cutoff values for newborn screening by tandem mass spectrometry through a worldwide collaborative effort...
  5. ncbi The tandem mass spectrometry newborn screening experience in North Carolina: 1997-2005
    D M Frazier
    Division of Genetics and Metabolism, Department of Pediatrics, University of North Carolina, Chapel Hill, 27599, USA
    J Inherit Metab Dis 29:76-85. 2006
    ..The success of the NC MS/MS NBS Program in identifying infants with metabolic disorders was dependent on a comprehensive follow-up protocol integrating the public health laboratory and the academic metabolic centres...
  6. ncbi Projected cost-effectiveness of statewide universal newborn hearing screening
    Ron Keren
    Department of Medicine, Children s Hospital, Boston, Massachusetts, USA
    Pediatrics 110:855-64. 2002
    ....
  7. ncbi Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications
    Andreas Schulze
    Division of Metabolic and Endocrine Diseases, Department of General Pediatrics, University Children s Hospital, Heidelberg, Germany
    Pediatrics 111:1399-406. 2003
    ....
  8. ncbi Early diagnosis of cystic fibrosis through neonatal screening prevents severe malnutrition and improves long-term growth. Wisconsin Cystic Fibrosis Neonatal Screening Study Group
    P M Farrell
    University of Wisconsin Medical School, Madison, Wisconsin, USA
    Pediatrics 107:1-13. 2001
    ..The Wisconsin CF Neonatal Screening Project was designed as a randomized clinical trial to assess the benefits and risks of early diagnosis ..
  9. pmc Congenital hypothyroidism
    Maynika V Rastogi
    Department of Pediatrics, Division of Endocrinology, Oregon Health and Science University, 707 SW Gaines Street, Portland, OR, USA
    Orphanet J Rare Dis 5:17. 2010
    ..Studies show that a lower neurocognitive outcome may occur in those infants started at a later age (> 30 days of age), on lower l-thyroxine doses than currently recommended, and in those infants with more severe hypothyroidism...
  10. ncbi Neonatal screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in The Netherlands: the importance of enzyme analysis to ascertain true MCAD deficiency
    T G J Derks
    Division of Metabolic Diseases, Beatrix Children s Hospital, University Medical Center Groningen, University of Groningen, PO Box 30 001, 9700 RB, Groningen, The Netherlands
    J Inherit Metab Dis 31:88-96. 2008
    The outcome was determined of population-wide neonatal screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency using tandem mass spectrometry (MS/MS) in The Netherlands, between October 2003 and September 2005...
  11. ncbi Population spectrum of ACADM genotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency
    Esther M Maier
    Research Center, Department of Biochemical Genetics and Molecular Biology, Dr von Hauner Children s Hospital, Ludwig Maximilians University, Munich, Germany
    Hum Mutat 25:443-52. 2005
    ..Our data might provide technical and medical guidance for decision making in the worldwide efforts to introduce MCADD population screening...
  12. ncbi Prevention of intellectual disability through screening for congenital hypothyroidism: how much and at what level?
    Scott D Grosse
    Centers for Disease Control and Prevention, 1600 Clifton Road, Atlanta, GA 30333, USA
    Arch Dis Child 96:374-9. 2011
    ..Congenital hypothyroidism (CHT) is a common cause of preventable mental retardation, and the quantification of intellectual disability due to CHT is needed to assess the public health benefit of newborn screening...
  13. ncbi Lower neonatal screening thyroxine concentrations in down syndrome newborns
    A S P van Trotsenburg
    Department of Pediatric Endocrinology, Emma Children s Hospital AMC, 1105 AZ Amsterdam, The Netherlands
    J Clin Endocrinol Metab 88:1512-5. 2003
    There is an unexplained higher incidence of congenital hypothyroidism (CH) detected by T(4)-based neonatal screening programs and a very high prevalence of (mild) plasma TSH elevation in young children with Down syndrome (DS)...
  14. ncbi Hearing assessment in infants and children: recommendations beyond neonatal screening
    Michael Cunningham
    Pediatrics 111:436-40. 2003
    ..This report outlines the risk indicators for hearing loss, provides guidance for when and how to assess hearing loss, and addresses hearing referral resources for children of all ages...
  15. ncbi Subtle health impairment and socioeducational attainment in young adult patients with congenital hypothyroidism diagnosed by neonatal screening: a longitudinal population-based cohort study
    Juliane Leger
    Pediatric Endocrinology Department, centre de référence maladies endocriniennes rares de la croissance, Institut National de la Santé et de la Recherche Médicale Unité 676, Hopital Robert Debre, 48 Bd Serurier, 75019 Paris, France
    J Clin Endocrinol Metab 96:1771-82. 2011
    ..Screening programs resulting in the early treatment of patients with congenital hypothyroidism (CH) have successfully improved neurodevelopmental outcome, but little is known about long-term health...
  16. ncbi Longitudinal growth, sexual maturation and final height in patients with congenital hypothyroidism detected by neonatal screening
    M Salerno
    Department of Pediatrics, University of Naples Federico II, Italy
    Eur J Endocrinol 145:377-83. 2001
    To evaluate longitudinal growth, pubertal development and final height in patients with congenital hypothyroidism (CH) detected by a neonatal screening programme, and to identify factors potentially affecting growth outcome.
  17. ncbi Progression of early structural lung disease in young children with cystic fibrosis assessed using CT
    Lauren S Mott
    Telethon Institute for Child Health Research and Centre for Child Health Research, University of Western Australia, Perth, Australia
    Thorax 67:509-16. 2012
    ..However, the longitudinal progression in a newborn screened population has not been investigated...
  18. ncbi Neonatal screening for glucose-6-phosphate dehydrogenase deficiency: biochemical versus genetic technologies
    Michael Kaplan
    Department of Neonatology, Shaare Zedek Medical Center, Jerusalem, Israel
    Semin Perinatol 35:155-61. 2011
    ..b>Neonatal screening programs for the condition should increase parental and caretaker awareness, thereby facilitating early ..
  19. ncbi Levels of evidence: universal newborn hearing screening (UNHS) and early hearing detection and intervention systems (EHDI)
    Christine Yoshinaga-Itano
    University of Colorado, Boulder, CO 80309 0409, USA
    J Commun Disord 37:451-65. 2004
    ..The research still remains at an infant level of development such that there is very little evidence for the efficacy of specific characteristics of the intervention provided...
  20. ncbi Neonatal screening for congenital hypothyroidism in West Black Sea area, Turkey
    E Simsek
    Abant Izzet Baysal University, Duzce School of Medicine, Department of Pediatrics, Duzce, Turkey
    Int J Clin Pract 59:336-41. 2005
    ..b>Neonatal screening for CH was performed using blood specimens collected onto filter paper...
  21. pmc Universal neonatal screening for sickle cell disease and other haemoglobinopathies in Ferrara, Italy
    Elisa Ballardini
    Department of Clinical and Experimental Medicine, Paediatric Section, University Hospital S Anna, Ferrara, Italy
    Blood Transfus 11:245-9. 2013
    ..2%: most of the immigrants were from countries at high risk of sickle cell disease. Since neonatal screening and prophylactic penicillin in early childhood could reduce mortality by 10 years of age to less than 2%, ..
  22. pmc High incidence of later-onset fabry disease revealed by newborn screening
    Marco Spada
    Department of Pediatrics, University of Torino, Italy
    Am J Hum Genet 79:31-40. 2006
    ....
  23. ncbi Lung disease at diagnosis in infants with cystic fibrosis detected by newborn screening
    Peter D Sly
    Division of Clinical Sciences, Telethon Institute for Child Health Research, PO Box 855, W Perth, WA 6872, Australia
    Am J Respir Crit Care Med 180:146-52. 2009
    ..The promise of newborn screening (NBS) for cystic fibrosis (CF) has not been fully realized, and the extent of improvement in respiratory outcomes is unclear. We hypothesized that significant lung disease was present at diagnosis...
  24. ncbi Clinical effectiveness and cost-effectiveness of the use of the thyroxine/thyroxine-binding globulin ratio to detect congenital hypothyroidism of thyroidal and central origin in a neonatal screening program
    Caren I Lanting
    Department of Social Pediatrics and Child and Youth Health Care, Netherlands Organization of Applied Scientific Research Prevention and Health, PO Box 2215, 2301 CE Leiden, Netherlands
    Pediatrics 116:168-73. 2005
    ..Since the introduction of screening for congenital hypothyroidism (CH) in 1974, the optimal laboratory strategy has been the subject of debate...
  25. ncbi MCAD deficiency in Denmark
    Brage Storstein Andresen
    Research Unit for Molecular Medicine, Aarhus University Hospital and Faculty of Health Science, Skejby Sygehus, Aarhus, Denmark
    Mol Genet Metab 106:175-88. 2012
    ..We conclude that MCADD is much more frequent than expected, has a reduced penetrance and that rapid genotyping using the initial blood spot sample is important for correct diagnosis and counseling...
  26. ncbi Newborn screening in the Asia Pacific region
    Carmencita D Padilla
    Department of Pediatrics, College of Medicine, and Institute of Human Genetics, National Institutes of Health, University of the Philippines Manila, Manila, Philippines
    J Inherit Metab Dis 30:490-506. 2007
    ....
  27. ncbi Skin bilirubin nomogram for the first 96 h of life in a European normal healthy newborn population, obtained with multiwavelength transcutaneous bilirubinometry
    Daniele De Luca
    Division of Neonatology, Department of Paediatrics, University Hospital A Gemelli, Catholic University of the Sacred Heart, Rome, Italy
    Acta Paediatr 97:146-50. 2008
    ..We aimed to provide data about skin bilirubin levels during the natural course of hyperbilirubinemia in European healthy neonates...
  28. ncbi Major congenital heart disease in Northern Norway: shortcomings of pre- and postnatal diagnosis
    Ganesh Acharya
    Department of Obstetrics and Gynecology, Univeristy Hospital of Northern Norway, Tromsø, Norway
    Acta Obstet Gynecol Scand 83:1124-9. 2004
    ..Earlier recognition of treatable abnormalities may improve the perinatal outcome. The purpose of this study was to evaluate the incidence, pre- and postnatal diagnosis and outcome of major CHD in two northern-most counties of Norway...
  29. ncbi Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening
    Ni Chung Lee
    Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan
    Mol Genet Metab 100:46-50. 2010
    ..Detection of CUD in mothers may prevent them from developing dilated cardiomyopathy...
  30. ncbi Cost and cost-effectiveness of universal screening for hearing loss in newborns
    E J Kezirian
    Department of Otolaryngology Head and Neck Surgery, University of Washington, Seattle, 98195, USA
    Otolaryngol Head Neck Surg 124:359-67. 2001
    ..To estimate the cost and cost-effectiveness of universal newborn hearing screening...
  31. ncbi Neonatal screening for severe primary immunodeficiency diseases using high-throughput triplex real-time PCR
    Stephan Borte
    Division of Clinical Immunology and Transfusion Medicine, Department of Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital Huddinge, Stockholm, Sweden
    Blood 119:2552-5. 2012
    ..of functional T or B lymphocytes in these diseases serves as a diagnostic criterion and can be applied to neonatal screening. A robust triplex PCR method for quantitation of T-cell receptor excision circles (TRECs) and κ-deleting ..
  32. pmc Addressing the global neglect of childhood hearing impairment in developing countries
    Bolajoko O Olusanya
    Unit of Audiological Medicine, Institute of Child Health, University College London, London, United Kingdom
    PLoS Med 4:e74. 2007
  33. ncbi Sudden death in medium chain acyl-coenzyme a dehydrogenase deficiency (MCADD) despite newborn screening
    Roman Yusupov
    Division of Genetics, Children s Hospital Boston, Boston, MA 02115, USA
    Mol Genet Metab 101:33-9. 2010
    ....
  34. ncbi Pompe disease in infants: improving the prognosis by newborn screening and early treatment
    Yin Hsiu Chien
    Department of Pediatrics and Medical Genetics, National Taiwan University Hospital, Taipei 10041, Taiwan
    Pediatrics 124:e1116-25. 2009
    ..Favorable outcomes with early intravenous enzyme-replacement therapy and alglucosidase alfa have been reported, but early clinical diagnosis before the development of severe symptoms has rarely been possible in infants...
  35. ncbi Suboptimal outcomes in patients with PKU treated early with diet alone: revisiting the evidence
    G M Enns
    Division of Medical Genetics, Department of Pediatrics, Lucile Packard Children s Hospital, Stanford University, Stanford, CA 94305 5208, USA
    Mol Genet Metab 101:99-109. 2010
    ....
  36. ncbi Bronchiectasis in infants and preschool children diagnosed with cystic fibrosis after newborn screening
    Stephen M Stick
    Department of Respiratory Medicine, Princess Margaret Hospital for Children, School of Paediatrics and Child Health, University of Western Australia, Melbourne, Australia
    J Pediatr 155:623-8.e1. 2009
    ..To determine the prevalence of bronchiectasis in young children with cystic fibrosis (CF) diagnosed after newborn screening (NBS) and the relationship of bronchiectasis to pulmonary inflammation and infection...
  37. ncbi Longitudinal study of thyroid function in children with mild hyperthyrotropinemia at neonatal screening for congenital hypothyroidism
    Daniela Leonardi
    Endocrinologia Università di Catania, Ospedale Garibaldi Nesima, Via Palermo 636, Catania, Italy
    J Clin Endocrinol Metab 93:2679-85. 2008
    ..of thyroid function in children with very short-lasting neonatal hyperthyrotropinemia ("false positive" at neonatal screening) was studied in an observational, prospective study...
  38. ncbi Screening for congenital toxoplasmosis: accuracy of immunoglobulin M and immunoglobulin A tests after birth
    Ruth E Gilbert
    Centre for Paediatric Epidemiology and Biostatistics, Institute of Child Health, London, UK
    J Med Screen 14:8-13. 2007
    ..To determine the accuracy of postnatal screening for toxoplasma-specific immunoglobulin (Ig) M and IgA...
  39. pmc Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A)
    Wuh Liang Hwu
    Department of Pediatrics, National Taiwan University Hospital and National Taiwan University School of Medicine, Taipei, Taiwan, Republic of China
    Hum Mutat 30:1397-405. 2009
    ..Further studies of the IVS4 later-onset phenotype will determine its natural history and optimal timing for therapeutic intervention...
  40. ncbi Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency
    Stefan Kölker
    Department of General Pediatric, University of Children s Hospital Heidelberg, D 69120 Heidelberg, Germany
    Pediatr Res 59:840-7. 2006
    ..were included who were diagnosed clinically after clinical presentation (n = 218) or presymptomatically by neonatal screening (n = 23), high-risk screening (n = 24), or macrocephaly (n = 14)...
  41. pmc Prevalence of permanent childhood hearing impairment in the United Kingdom and implications for universal neonatal hearing screening: questionnaire based ascertainment study
    H M Fortnum
    MRC Institute of Hearing Research, University Park, Nottingham NG7 2RD
    BMJ 323:536-40. 2001
    ..To estimate the prevalence of confirmed permanent childhood hearing impairment and its profile across age and degree of impairment in the United Kingdom...
  42. pmc Measuring transcutaneous bilirubin: a comparative analysis of three devices on a multiracial population
    Francesco Raimondi
    Division of Neonatology, Department of Pediatrics, Universita Federico II, Via Pansini 5, 80131, Napoli, Italy
    BMC Pediatr 12:70. 2012
    ..The aim of this study is to compare the performance of three most widespread transcutaneous bilirubinometers on a multiracial population of term and late pre-term neonates...
  43. ncbi Early detection of Pompe disease by newborn screening is feasible: results from the Taiwan screening program
    Yin Hsiu Chien
    Department of Pediatrics, National Taiwan University Hospital, National Taiwan University School of Medicine, Taipei, Taiwan
    Pediatrics 122:e39-45. 2008
    ..The aim of this study was to test the feasibility of screening newborns in Taiwan for Pompe disease by using a fluorometric enzymatic assay to determine acid alpha-glucosidase activity in dried blood spots...
  44. ncbi Geographic distribution of human T-lymphotropic virus types 1 and 2 among mothers of newborns tested during neonatal screening, Minas Gerais, Brazil
    Maísa Aparecida Ribeiro
    Fundação Hemominas, Belo Horizonte, Minas Gerais, Brazil
    Rev Panam Salud Publica 27:330-7. 2010
    ..virus types 1 and 2 (HTLV-1/2) in the State of Minas Gerais, Brazil, in puerperal women whose newborns were tested for HTLV-1/2 during neonatal screening, and to overlap seropositivity with social and economic status determinants.
  45. ncbi Quality of life, developmental milestones, and self-esteem of young adults with congenital hypothyroidism diagnosed by neonatal screening
    L van der Sluijs Veer
    Pediatric Psychosocial Department, Emma Children s Hospital Academic Medical Center, Amsterdam, The Netherlands
    J Clin Endocrinol Metab 93:2654-61. 2008
    ..Although much is written about cognitive and motor development, little is known about emotional and social consequences for patients growing up with CH, diagnosed by neonatal screening.
  46. pmc Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: data from a cohort study
    Catharina M L Touw
    Section of Metabolic Diseases, Beatrix Children s Hospital, University of Groningen, University Medical Centre of Groningen, PO Box 30 001, CA84, 9700 RB, Groningen, The Netherlands
    Orphanet J Rare Dis 7:30. 2012
    ..It could be hypothesised that residual MCAD enzyme activity can contribute in risk stratification of subjects with variant ACADM genotypes...
  47. ncbi Predictor of low birth weight babies by anthropometry
    A Taksande
    Department of Pediatrics, Mahatma Gandhi Institute of Medical Sciences, Sevagram, Wardha, Maharashtra 442102, India
    J Trop Pediatr 53:420-3. 2007
    ..The present study was undertaken to find out the best simple anthropometric parameter for identifying low birth weight (LBW) babies...
  48. ncbi Proportion of various types of thyroid disorders among newborns with congenital hypothyroidism and normally located gland: a regional cohort study
    Rossella Gaudino
    Pediatric Endocrinology and Diabetes Unit, INSERM U 457, Hopital Robert Debre, 75019 Paris, France
    Clin Endocrinol (Oxf) 62:444-8. 2005
    ..Six of these 85 patients were lost to follow-up and were therefore excluded from the study. During follow-up, patients were classified as having permanent or transient hypothyroidism...
  49. ncbi Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 1. From blood spot to screening result
    J Gerard Loeber
    National Institute for Public Health RIVM, P O Box 1, 3720BA, Bilthoven, The Netherlands
    J Inherit Metab Dis 35:603-11. 2012
    In many European countries neonatal screening has been introduced over the last 50 years as an important public health programme...
  50. ncbi Enhanced interpretation of newborn screening results without analyte cutoff values
    Gregg Marquardt
    Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, MN, USA
    Genet Med 14:648-55. 2012
    ..To improve quality of newborn screening by tandem mass spectrometry with a novel approach made possible by the collaboration of 154 laboratories in 49 countries...
  51. pmc Newborn screening for medium chain acyl-CoA dehydrogenase deficiency in England: prevalence, predictive value and test validity based on 1.5 million screened babies
    Juliet Oerton
    MRC Centre of Epidemiology for Child Health, Institute of Child Health, University College London, 30 Guilford Street, London, WC1N 1EH, United Kingdom
    J Med Screen 18:173-81. 2011
    ..Early diagnosis by screening asymptomatic newborns may improve outcome, but the benefit to newborns identified with variants not encountered clinically is uncertain...
  52. ncbi Positive parental attitudes to participating in research involving newborn screened infants with CF
    Jane Chudleigh
    Great Ormond Street Hospital for Children NHS Foundation Trust, London, WC1N 3JH, UK
    J Cyst Fibros 12:234-40. 2013
    ..This study aimed to assess parental attitudes and the feasibility of recruiting and retaining both NBS infants with CF and healthy control infants to a longitudinal, observational study...
  53. ncbi Use of screening dried blood spots for estimation of prevalence, risk factors, and birth outcomes of congenital cytomegalovirus infection
    Martin Kharrazi
    Genetic Disease Screening Program, California Department of Public Health, Richmond, CA, USA
    J Pediatr 157:191-7. 2010
    ....
  54. ncbi Pulse oximetry screening for congenital heart defects in newborn infants (PulseOx): a test accuracy study
    Andrew K Ewer
    University of Birmingham, School of Clinical and Experimental Medicine, Birmingham, UK
    Lancet 378:785-94. 2011
    ..We prospectively assessed the accuracy of pulse oximetry as a screening test for congenital heart defects...
  55. ncbi Neonatal screening for congenital hypothyroidism and phenylketonuria in China
    Jian Ying Zhan
    Department of Pediatric Health Care, Children s Hospital, Zhejiang University School of Medicine and Zhejiang Key Laboratory for Diagnosis and Therapy of Neonatal Diseases, Hangzhou 310003, China
    World J Pediatr 5:136-9. 2009
    b>Neonatal screening is helpful to prevent serious disability and sufferings caused by congenital or inherited disease...
  56. pmc Efficacy and outcome of expanded newborn screening for metabolic diseases--report of 10 years from South-West Germany
    Martin Lindner
    Centre for Paediatric and Adolescent Medicine, University Heidelberg, Heidelberg, Germany
    Orphanet J Rare Dis 6:44. 2011
    ..However, systematic evaluations of newborn screening programmes are rare, most often only describing parts of the whole process from taking blood samples to long-term evaluation of outcome...
  57. ncbi Birth prevalence rates of newborn screening disorders in relation to screening practices in the United States
    Vicki S Hertzberg
    Emory University, Rollins School of Public Health, Department of Biostatistics, Atlanta, GA, USA
    J Pediatr 159:555-60. 2011
    ....
  58. ncbi Audit of initial management of congenital hypothyroidism in the United Kingdom--comparison of UK practice with European and UK guidelines
    Jeremy H Jones
    Department of Child Health, Royal Hospital for Sick Children, Glasgow, UK
    J Pediatr Endocrinol Metab 22:1017-25. 2009
    ..Prompt and adequate management of newly diagnosed congenital hypothyroidism (CH) has been shown to optimise intellectual outcome...
  59. pmc Public attitudes regarding the use of residual newborn screening specimens for research
    Jeffrey R Botkin
    University of Utah, Salt Lake City, UT 84112, USA
    Pediatrics 129:231-8. 2012
    ..Our objective was to evaluate public opinion about the policies and practices relevant to the retention and use of residual bloodspots for biomedical research...
  60. ncbi A survey of newborn screening for cystic fibrosis in Europe
    Kevin W Southern
    University of Liverpool, Royal Liverpool Children s Hospital, Liverpool, United Kingdom
    J Cyst Fibros 6:57-65. 2007
    ..Following identification of the CFTR gene, DNA analysis for common CF-associated mutations has been increasingly used as a second tier test. The aim of this study was to survey the current practice of CF NBS programmes in Europe...
  61. ncbi Declining prevalence of cystic fibrosis since the introduction of newborn screening
    John Massie
    Department of Respiratory Medicine, Royal Children s Hospital, Melbourne, Victoria 3052, Australia
    Arch Dis Child 95:531-3. 2010
    ..The aim of this study was to assess the evidence for changes in the live-birth prevalence of CF since the introduction of newborn screening for CF...
  62. ncbi Earlier onset of treatment or increment in LT4 dose in screened congenital hypothyroidism: which as the more important factor for IQ at 7 years?
    Pascal Boileau
    General Outpatient Clinic, Hopital St Vincent de Paul, Paris, France
    Horm Res 61:228-33. 2004
    ..To determine between timing and LT4 dose which was the more important factor for IQ at 7 years in screened congenital hypothyroidism (CH)...
  63. ncbi A high prevalence of consanguineous and severe congenital hypothyroidism in an Iranian population
    Arash Ordookhani
    Endocrine Research Center, Shaheed Beheshti University of Medical Sciences Tehran, Iran
    J Pediatr Endocrinol Metab 17:1201-9. 2004
    ..Odds ratio (95%CI(OR)) of consanguinity in permanent CH and dysgenesis was 2.75 (1.17-6.47) and 3.74 (1.33-10.52), respectively. The high prevalence of parental consanguinity in infants with permanent CH warrants genetic assessment...
  64. ncbi Neonatal screening for congenital hypothyroidism in East Azerbaijan, Iran: the first report
    Ali Hossein Zeinalzadeh
    Department of Community Medicine, Tabriz University of Medical Sciences, Tabriz, Iran
    J Med Screen 19:123-6. 2012
    ..To investigate the prevalence of congenital hypothyroidism (CH) among neonates in East Azerbaijan, Iran...
  65. ncbi Pain in neonates during screening for retinopathy of prematurity using binocular indirect ophthalmoscopy and wide-field digital retinal imaging: a randomised comparison
    C A Dhaliwal
    Centre for Reproductive Biology, Queens Medical Research Institute, 47 Little France Crescent, Edinburgh EH16 4TJ, UK
    Arch Dis Child Fetal Neonatal Ed 95:F146-8. 2010
    ..To compare the pain experienced by premature infants undergoing wide-field digital retinal imaging (WFDRI) and binocular indirect ophthalmoscopy (BIO) for retinopathy of prematurity (ROP) screening...
  66. ncbi Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: a two-year summary from the New England Newborn Screening Program
    T H Zytkovicz
    New England Newborn Screening Program, University of Massachusetts Medical School, Jamaica Plain, 305 South St, Jamaica Plain, MA 02130, USA
    Clin Chem 47:1945-55. 2001
    ..Limited information is available for setting the marker cutoffs and for the resulting positive predictive values...
  67. ncbi Not without my permission: parents' willingness to permit use of newborn screening samples for research
    B A Tarini
    Division of General Pediatrics, Child Health Evaluation and Research CHEAR Unit, University of Michigan, Ann Arbor, Mich 48109 0456, USA
    Public Health Genomics 13:125-30. 2010
    ..State newborn screening (NBS) programs are considering the storage and use of NBS blood samples for research. However, no systematic assessment of parents' attitudes exists...
  68. pmc Neonatal hearing screening: modelling cost and effectiveness of hospital- and community-based screening
    Eva Grill
    Department of Physical Medicine and Rehabilitation, University of Munich, Germany
    BMC Health Serv Res 6:14. 2006
    ....
  69. ncbi Audiological characteristics of infants with abnormal transient evoked otoacoustic emission and normal auditory brainstem response
    Lihui Huang
    Department of Otolaryngology Head and Neck Surgery, Beijing Tongren Hospital, Capital Medical University, Beijing, China
    Biosci Trends 2:211-5. 2008
    ..4%) were abnormal, respectively. The present data suggests that the hearing of infants cannot be sufficiently evaluated with ABR only and that it must be evaluated with integrative audiological testing methods...
  70. ncbi The need for long-term audiologic follow-up of neonatal intensive care unit (NICU) graduates
    Patricia J Yoon
    Division of Otolaryngology Head and Neck Surgery, Pediatric Otolaryngology, Stanford University, Lucile Packard Children s Hospital at Stanford, 725 Welch Road, Palo Alto, CA 94304, USA
    Int J Pediatr Otorhinolaryngol 67:353-7. 2003
    ..To evaluate the adequacy of newborn hearing screening in the identification of hearing loss in post-neonatal intensive care unit (NICU) infants...
  71. ncbi CFTR mutations in Turkish and North African cystic fibrosis patients in Europe: implications for screening
    Phillis Lakeman
    Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands
    Genet Test 12:25-35. 2008
    ....
  72. ncbi Increased neonatal thyrotropin in Down syndrome
    A Myrelid
    Department of Women s and Children s Health, Uppsala University, Uppsala, Sweden
    Acta Paediatr 98:1010-3. 2009
    ..The aim of this study was to investigate the blood concentration of thyrotropin (TSH) observed at neonatal screening of infants with DS and its possible association with development of hypothyroidism during childhood.
  73. ncbi Severely impaired health status at diagnosis of Pompe disease: a cross-sectional analysis to explore the potential utility of neonatal screening
    Tessel Rigter
    Department of Clinical Genetics EMGO Institute for Health and Care Research, VU University Medical Center, Amsterdam, The Netherlands
    Mol Genet Metab 107:448-55. 2012
    ..when started early and methods for dried bloodspot screening for Pompe disease are currently being explored, neonatal screening is getting increased attention...
  74. ncbi Neonatal screening for congenital hypothyroidism in the Netherlands: cognitive and motor outcome at 10 years of age
    Marlies J E Kempers
    Department of Pediatric Endocrinology, Emma Children s Hospital Academic Medical Center, University of Amsterdam, P O Box 22700, 1100 DE Amsterdam, The Netherlands
    J Clin Endocrinol Metab 92:919-24. 2007
    ....
  75. ncbi The investigation and management of neonatal hypoglycaemia
    Sanjeev Deshpande
    Royal Shrewsbury Hospital, Mytton Oak Road, Shrewsbury, SY2 6SP, UK
    Semin Fetal Neonatal Med 10:351-61. 2005
    ..Further investigations and specific interventions should be considered when hypoglycaemia is of unusual severity or occurs in an otherwise low-risk infant...
  76. ncbi Storing newborn blood spots: modern controversies
    Linda Kharaboyan
    Centre de recherche en droit public, University of Montreal
    J Law Med Ethics 32:741-8. 2004
  77. ncbi A cost-effectiveness analysis of newborn hearing screening strategies
    A R Kemper
    Children s Primary Care Research Group, Department of Pediatrics University of North Carolina, Chapel Hill 27599 7225, USA
    Arch Pediatr Adolesc Med 154:484-8. 2000
    ..Targeted screening reserves the 2-stage screening process for those infants at risk for congenital hearing loss...
  78. ncbi Hearing screening in newborns: systematic review of accuracy, effectiveness, and effects of interventions after screening
    R Wolff
    Department of Medical Biometry and Statistics, University Hospital Freiburg, Freiburg, Germany
    Arch Dis Child 95:130-5. 2010
    ..The authors aimed to evaluate the benefits and harms of universal newborn hearing screening programmes in the detection of hearing impairment...
  79. ncbi Final height and pubertal growth in Japanese patients with congenital hypothyroidism detected by neonatal screening
    M Adachi
    Department of Endocrinology and Metabolism, Kanagawa Children s Medical Center, Yokohama, Japan
    Acta Paediatr 92:698-703. 2003
    To investigate the final adult heights and pubertal growth patterns in Japanese patients with congenital hypothyroidism (CH) detected by neonatal screening.
  80. ncbi The cost-effectiveness of expanding newborn screening for up to 21 inherited metabolic disorders using tandem mass spectrometry: results from a decision-analytic model
    Lauren E Cipriano
    Richard Ivey School of Business, University of Western Ontario, London, ON, Canada
    Value Health 10:83-97. 2007
    ..We estimated the cost-effectiveness of using this technology to expand the Ontario newborn screening program to screen for each disease independently and for hypothetical bundles of up to 21 metabolic diseases...
  81. ncbi Screening for retinopathy of prematurity: is it painful?
    Sylvia Belda
    Department of Pediatrics, Hospital Doce de Octubre, Madrid, Spain
    Biol Neonate 86:195-200. 2004
    ..The objective of this study is to describe the side effects of this ophthalmic exam with special focus on the occurrence of pain...
  82. ncbi Clinical approach to treatable inborn metabolic diseases: an introduction
    J M Saudubray
    Centre de Référence des Maladies Héréditaires du Métabolisme, Hopital Necker Enfants Malades, Universite Rene Descartes, 149 rue de Sevres, 75743, Paris Cedex 15, France
    J Inherit Metab Dis 29:261-74. 2006
    ..These symptoms are summarized in four tables. In addition, an extensive list of medications used in the treatment of inborn errors is presented...
  83. ncbi Newborn screening with tandem mass spectrometry: examining its cost-effectiveness in the Wisconsin Newborn Screening Panel
    Ralph P Insinga
    Department of Population Health Sciences and the Wisconsin State Laboratory of Hygiene, University of Wisconsin Madison, 53726 2397, USA
    J Pediatr 141:524-31. 2002
    To examine the cost-effectiveness of tandem mass spectrometry (MS/MS) in a neonatal screening panel for 14 fatty acid oxidation and organic acidemia disorders in the Wisconsin Newborn Screening Program.
  84. ncbi Comparison of two transcutaneous bilirubinometers--Minolta AirShields Jaundice Meter JM103 and Spectrx Bilicheck--in Thai neonates
    Suwimol Sanpavat
    Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand
    Southeast Asian J Trop Med Public Health 36:1533-7. 2005
    ..The accuracy of JM in predicting TSB was higher than BC at all TSB levels. Operating the JM was simple and uncomplicated. It would be suitable for clinical use when a number of personnel perform the measurement...
  85. ncbi Cost-benefit analysis of universal tandem mass spectrometry for newborn screening
    Edgar J Schoen
    Department of Genetics, Kaiser Permanente Medical Center, Oakland, California 94611 5693, USA
    Pediatrics 110:781-6. 2002
    ..To estimate potential costs and benefits of routinely using tandem mass spectrometry (MS/MS) to screen newborns for inborn errors of metabolism...
  86. ncbi Clinical efficacy and cost-effectiveness of newborn screening for medium chain acyl-CoA dehydrogenase deficiency using tandem mass spectrometry
    Khai Tran
    HTA, Canadian Agency for Drugs and Technologies in Health, 600 865 Carling Avenue, Ottawa, ON, Canada K1S 5S8
    Clin Biochem 40:235-41. 2007
    ..To determine the clinical efficacy and cost-effectiveness of newborn screening for MCADD using tandem mass spectrometry (MS/MS) compared with clinical diagnosis within the Canadian context...
  87. ncbi Expanded newborn screening for biochemical disorders: the effect of a false-positive result
    Elizabeth A Gurian
    Department of Medicine, Children s Hospital Boston, Boston, MA 02115, USA
    Pediatrics 117:1915-21. 2006
    ..False-positive identifications may increase as disorders are added to screening panels. Concerns arise regarding the potential impact on parental stress, family relationships, and perceptions of the child's health...
  88. ncbi Linear growth in children with congenital hypothyroidism detected by neonatal screening and treated early: a longitudinal study
    A Morin
    Department of Endocrinology and Growth, Children s Hospital SSM Ludovica, La Plata, Argentina
    J Pediatr Endocrinol Metab 15:973-7. 2002
    We performed a longitudinal study of a cohort of 74 children with congenital hypothyroidism (CH) detected by neonatal screening (Buenos Aires Province, Argentina) up to the age of 3 years old, in order to study linear growth and the ..
  89. ncbi Parental tolerance of false-positive newborn screening results
    Lisa A Prosser
    Department of Ambulatory Care and Prevention, Harvard Medical School and Harvard Pilgrim Health Care, 133 Brookline Ave, Sixth Floor, Boston, MA 02215, USA
    Arch Pediatr Adolesc Med 162:870-6. 2008
    ..To measure parental tolerance for a false-positive newborn screening result by assessing perceived quality of life for screening results and health states associated with expanded newborn screening programs for metabolic disorders...
  90. pmc The enzymology of mitochondrial fatty acid beta-oxidation and its application to follow-up analysis of positive neonatal screening results
    Ronald J A Wanders
    Department of Clinical Chemistry, Emma Children s Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    J Inherit Metab Dis 33:479-94. 2010
    ..In this review, we will describe the current state of knowledge in the field of fatty acid oxidation enzymology and its application to the follow-up analysis of positive neonatal screening results.
  91. ncbi [Medium-chain acyl-CoA-dehydrogenase (MCAD) deficiency: French consensus for neonatal screening, diagnosis, and management]
    F Feillet
    INSERM U 954, Centre de Référence des Maladies Héréditaires du Métabolisme, hôpital de Brabois Enfants, rue du Morvan, 54511 Vandœuvre, France
    Arch Pediatr 19:184-93. 2012
    ..in France, a consensus was written for the management of MCAD deficiency diagnosed either clinically or by neonatal screening. Patients may present acutely with hyperammonemia, hypoglycemia, encephalopathy, and hepatomegaly, mainly ..
  92. ncbi Clinical pictures of 75 patients with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD)
    T Ohura
    Depatment of Paediatrics, Tohoku University School of Medicine, Sendai, Japan
    J Inherit Metab Dis 30:139-44. 2007
    ..Another patient developed citrullinaemia type II (CTLN2) at age 16 years. It is important to recognize that NICCD is not always a benign condition...
  93. ncbi Comparison of hearing screening programs between one step with transient evoked otoacoustic emissions (TEOAE) and two steps with TEOAE and automated auditory brainstem response
    Hung Ching Lin
    Department of Otolaryngology, Hearing and Speech Center, Mackay Memorial Hospital, Taipei, Taiwan
    Laryngoscope 115:1957-62. 2005
    ..We investigated their differences in referral rate, the accurate identification rate of congenital hearing loss (HL), and cost effectiveness...
  94. ncbi Screening for conditions that do not meet the Wilson and Jungner criteria: the case of Duchenne muscular dystrophy
    Lainie Friedman Ross
    Department of Pediatrics, Section of General Pediatrics, University of Chicago, Illinois 60637, USA
    Am J Med Genet A 140:914-22. 2006
    ..A rigorous consent process will be necessary to ensure that the decision whether or not to test is a voluntary and informed choice...
  95. ncbi An analysis of the costs of implementing the National Newborn Hearing Screening Programme in England
    K Uus
    Audiology and Deafness Group, School of Psychological Sciences, Faculty of Medical and Human Sciences, University of Manchester, Manchester, UK
    J Med Screen 13:14-9. 2006
    ..A comparison of costs and outcomes associated with NHSP and IDTS was conducted...
  96. ncbi A review of the psychosocial effects of false-positive results on parents and current communication practices in newborn screening
    J Hewlett
    Division of Genetics, Children s Hospital Boston, Massachusetts, USA
    J Inherit Metab Dis 29:677-82. 2006
    ..Communication strategies with sample materials are proposed...
  97. ncbi Neonatal screening for sickle cell disease in France
    J Bardakdjian-Michau
    Service de Biochimie et de Génétique, Unité Fonctionnelle de Génétique, Centre Hospitalier Universitaire Henri Mondor AP HP, Creteil, France
    J Clin Pathol 62:31-3. 2009
    ..of overseas France, and now immigration essentially from North and sub-Saharan Africa to mainland France, neonatal screening for sickle cell disease (SCD) has been performed in France since 1985 in Guadalupe and dependencies, as a ..
  98. ncbi Potential impact of newborn screening for cystic fibrosis on child survival: a systematic review and analysis
    Scott D Grosse
    National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, 1600 Clifton Road NE, Atlanta, GA 30333, USA
    J Pediatr 149:362-6. 2006
    ..To estimate the population impact of child mortality as a result of cystic fibrosis (CF) potentially preventable by newborn screening...
  99. ncbi Expanding screening for rare metabolic disease in the newborn: an analysis of costs, effect and ethical consequences for decision-making in Finland
    Ilona Autti-Ramo
    Finnish Office for Health Care Technology Assessment, National Research and Development Centre for Welfare and Health STAKES, Helsinki, Finland
    Acta Paediatr 94:1126-36. 2005
    ..A proposal to start a pilot study on screening for other rare metabolic diseases using tandem mass spectrometry prompted a health technology assessment project on the effect and costs of expanded newborn screening programme options...
  100. pmc The long quest for neonatal screening for severe combined immunodeficiency
    Rebecca H Buckley
    Departments of Pediatrics and Immunology, Duke University Medical Center, Durham, NC 27710, USA
    J Allergy Clin Immunol 129:597-604; quiz 605-6. 2012
    ..Even more important will be their roles in establishing accurate diagnoses for infants with positive screen results and in ensuring that they are given the best possible treatment...
  101. ncbi Nationwide survey of extended newborn screening by tandem mass spectrometry in Taiwan
    Dau Ming Niu
    Institute of Clinical Medicine, School of Medicine, National Yang Ming University, No 155, Sec 2, Linong Street, Taipei, Taiwan
    J Inherit Metab Dis 33:S295-305. 2010
    ..This is the largest case of MS/MS newborn screening in an East-Asian population to date. We hereby report the incidences and outcomes of metabolic inborn error diseases found in our nationwide MS/MS newborn screening program...

Research Grants62

  1. High Throughput Methods to Measure Disparities in Childhood Exposure to Tobacco
    Sharon E Murphy; Fiscal Year: 2010
    ..race by applying high throughput cotinine assay methods to extant dried blood spots collected during routine neonatal screening (n~2900);and (3) estimate the rate of SHS exposure in children ages 6-36 months by race by applying high ..
  2. NEW ENGLAND HYPOTHYROIDISM COLLABORATIVE FOLLOW-UP STUDY
    Marvin Mitchell; Fiscal Year: 1993
    ..proposed study is to complete the follow-up of children with hypothyroidism diagnosed as the result of the neonatal screening program in New England from January 1, 1976 through December 31, 1980...
  3. GENETIC FACTORS IN BIRTH DEFECTS
    Charlotte Druschel; Fiscal Year: 2009
    ..data from birth certificates and DNA samples collected by New York State's birth defects registry and neonatal screening program, this study will identify large numbers of children with birth defects and children without such ..
  4. MOLECULAR BASIS OF CONGENITAL THYROTROPIN DEFICIENCY
    JOHN FYFE; Fiscal Year: 2001
    ..Though less common, CH due to pituitary defects present a particular diagnostic challenge to neonatal screening programs, resulting in delay of treatment...
  5. METHOD FOR NEONATAL SCREENING FOR HOMOCYSTINURIA
    JAMES ROZZELL; Fiscal Year: 1999
    ..commercial application for this work is immediate as a replacement for the Guthrie microbiological assay in neonatal screening, which is unable to detect L- homocysteine...
  6. NEWBORN SCREENING BY MULTIPLEX MOLECULAR ANALYSIS
    Edwin Naylor; Fiscal Year: 1999
    b>Neonatal screening is a proven public health service. Innovative methods such as tandem mass spectrometry have greatly increased the number of disorders effectively identified in newborn screening laboratories...
  7. METHOD FOR NEONATAL SCREENING FOR HOMOCYSTINURIA
    JAMES ROZZELL; Fiscal Year: 2002
    ..In Phase 2, the test strip assay will be perfected for use in the neonatal screening for homocystinuria to replace the flawed Guthrie test, which cannot detect homocysteine...
  8. Prenatal and Neonatal Biologic Markers for Autism
    Lisa Croen; Fiscal Year: 2006
    ..We will also incorporate results from routine neonatal screening, and demographic and perinatal data routinely recorded on the birth certificate...
  9. Exploring systemic AAV gene delivery in the dystrophic dog
    Dongsheng Duan; Fiscal Year: 2009
    ..The majority of DMD patients can be diagnosed through neonatal screening. Our study will open the door for neonatal gene therapy in human patients in the future.
  10. NEWBORN SCREENING FOR C.F.
    Keith Hammond; Fiscal Year: 1990
    ..International Meeting on Newborn Screening for Cystic Fibrosis is designed to provide current information on neonatal screening for Cystic Fibrosis (CF) to physicians (pediatric pulmonologists, gastroenterologists, pathologists, ..
  11. Molecular pathogenesis of P. aeruginosa in CF
    Joseph Barbieri; Fiscal Year: 2005
    ..at the Medical College of Wisconsin, the National Institutes of Health (NHBLI and NCI) and the Wisconsin CF Neonatal Screening Project and will provide insight into the pathogenesis of P. aeruginosa in children with CF...
  12. High-Speed Neonatal Screening by Photoionization MS/MS
    JACK SYAGE; Fiscal Year: 2003
    ..The principal advantages are (i) minimization of ion suppression by LPPI vs ESI, (ii)increased rate of MS/MS analysis by QitTof vs triple quadrupole MS, and (iii) simplification of the sample preparation requirements. ..
  13. SP-B GENE MUTATIONS AND NEONATAL LUNG DISEASE
    Lawrence Nogee; Fiscal Year: 1999
    ..PCR amplified DNA from blood spots obtained from a neonatal screening program will be analyzed for mutations responsible for a SP-B deficiency found in more than one kindred...
  14. HAND HELD NEONATAL AUDITORY SCREENING DEVICE
    Gerald Popelka; Fiscal Year: 1999
    ..Initial attempts to develop an effective screening approach relied on diagnostic devices not optimized for neonatal screening and have had to supplement the measures with a separate screening device for evoked potential measurements...
  15. Population-scale HLA typing for home land defense
    KRISHNA JAYARAMAN; Fiscal Year: 2004
    ..Variants of this low cost, portable HLA Chip technology could be "spun-off" for low cost, field-ready neonatal screening in a third world environment or for battlefield-ready personal ID or for civilian ID applications in a ..
  16. PROCEDURAL PAIN AND SOOTHING IN NEWBORNS
    ROSEMARY CAMPOS; Fiscal Year: 1993
    ..1) Group A infants receiving multiple heelsticks) will respond more intensely at 24 hours of age to the neonatal screening heelstick, and take longer to calm down spontaneously after the heelstick, than will group B (infants of the ..
  17. Preschool Vision Screening in Primary Care Settings
    Alex Kemper; Fiscal Year: 2007
    ....
  18. Aromatase Inhibitor in Males with Adrenal Hyperplasia
    Kyriakie Sarafoglou; Fiscal Year: 2006
    ..unreadable] [unreadable]..
  19. Attention, Memory, and Executive Function in Fragile X
    Donald Bailey; Fiscal Year: 2006
    ..abstract_text> ..
  20. Diet treatment of Galactosemic Infants: A Pilot Study
    Can Ficicioglu; Fiscal Year: 2007
    ..Evidence from this study may have a future impact on how newborn galactosemics are treated with a potential for moderating long-term complications. [unreadable] [unreadable]..
  21. Methods for Promoting Public Dialogue on the Use of Residual Newborn Screening Sa
    JEFFREY ROBERT BOTKIN; Fiscal Year: 2010
    ..The project also will compare 3 methods of obtaining public input on this important set of issues. The project is directly relevant to policies in public health departments that affect virtually every newborn in the country. ..
  22. Outcomes in congenital toxoplasmic retinochoroiditis
    Ruth Gilbert; Fiscal Year: 2005
    ..abstract_text> ..
  23. NEWBORN GENETIC SCREENING:FOR WHOSE BENEFIT?
    Lainie Ross; Fiscal Year: 2005
    ..OUTCOMES: The major outcomes will be a series of peer-reviewed articles and a full-length book entitled Newborn Genetic Screening: In whose Interest? For whose Benefit? ..
  24. EXTRAMURAL FACILITIES IMPROVEMENT PROGRAM
    Robert Golden; Fiscal Year: 2004
    ....
  25. Prediciting Severe Neonatal Hyperbilirubinemia
    Ron Keren; Fiscal Year: 2007
    ....
  26. EXPANDED NEWBORN SCREENING FOR METABOLIC DISORDERS
    Susan Waisbren; Fiscal Year: 2006
    ..Primary data from parent interviews and the New England Newborn Screening Program, as well as secondary data from published reports and a panel of experts will be used as inputs to the cost-effectiveness model. [unreadable] [unreadable]..
  27. Maternal Opioid Treatment: Human Experimental Research
    Barry Lester; Fiscal Year: 2009
    ..abstract_text> ..
  28. MOLECULAR GENETIC STUDIES OF GLYCEROL KINASE DEFICIENCY
    Edward McCabe; Fiscal Year: 2003
    ....
  29. E/BETA THALASSEMIA--NATURAL HISTORY & RESPONSE TO CHEMO
    Elliott Vichinsky; Fiscal Year: 2002
    ..In summary, if this study is successful, it will change the approach to Hb E/B worldwide and result in improved quality of life and decreased mortality. (End of Abstract) ..
  30. ELSI Scale-Up: Large Sample Gene Discovery & Disclosure
    Donald Bailey; Fiscal Year: 2006
    ..abstract_text> ..
  31. Modulation of Iron Deposition in SCD and Other Hemoglobinopathies
    ELLIOTT P contact VICHINSKY; Fiscal Year: 2010
    ....
  32. Oral History of Human Genetics: The Intelligent Archive
    Edward McCabe; Fiscal Year: 2009
    ..3. suggest new directions for research. ..
  33. Society for Inherited Metabolic Disorders Annual Meeting
    Gerard Vockley; Fiscal Year: 2005
    ..NIH support of this application will greatly facilitate US investigators remaining in the forefront of this exciting and expanding field. ..
  34. OTOREFLECTANCE ASSESSMENT OF MIDDLE-EAR FUNCTIONING
    DOUGLAS KEEFE; Fiscal Year: 2006
    ..Outcomes from Phase II will evaluate whether OR is more accurate than conventional tests to screen and diagnose middle-ear dysfunction in clinical applications of important societal concern. [unreadable] [unreadable]..
  35. MOLECULAR CHARACTERIZATION OF ACYL-COA DEHYDROGENASES
    Gerard Vockley; Fiscal Year: 2004
    ..This work will lead to a more complete understanding of the ACD gene family, and ultimately, to an improved ability to diagnose and treat patients with deficiencies of these enzymes. ..
  36. Eighth Cooley's Anemia Symposium
    Elliott Vichinsky; Fiscal Year: 2005
    ....
  37. Resilience in Children
    Barry Lester; Fiscal Year: 2006
    ..unreadable] [unreadable]..
  38. PHASE I/II STUDY OF SIMVASTATIN (ZOCOR) THERAPY IN SICKLE CELL DISEASE
    Carolyn Hoppe; Fiscal Year: 2008
    ..unreadable] [unreadable] 2. To assess the safety and tolerability of oral simvastatin in patients with SCD. [unreadable] [unreadable] [unreadable]..
  39. MOLECULAR MECHANISMS OF ADRENAL DEVELOPMENT
    Edward McCabe; Fiscal Year: 2004
    ..In addition, we will elucidate mechanisms and identify candidate genes for pathologic processes as varied as adrenal cortical aplasia, hypoplasia and tumorigenesis. ..
  40. Identifying Newborns with Fragile X: Planning Grant
    Donald Bailey; Fiscal Year: 2005
    ..abstract_text> ..
  41. THE CARNITINE TRANSPORTER IN HUMAN DISEASE
    Nicola Longo; Fiscal Year: 2010
    ....
  42. Gene delivery to striated muscle by systemic AAV vectors
    Dwight D Koeberl; Fiscal Year: 2010
    ..Efficacious muscle-targeted gene therapy in GSD-II will have implications for gene therapy in other muscular dystrophies and myopathies. ..
  43. PROSTAGLANDINS AND COLON ADENOMAS
    Henry Lin; Fiscal Year: 2002
    ..The proposed study should improve understanding of the mechanism of prevention by NSAIDs and may lead to new targets for chemopreventive agents. ..
  44. Middle Ear Epithelial Response to Cytokine Stimulation
    Joseph Kerschner; Fiscal Year: 2005
    ....
  45. REGULATION OF HEPATOCELLULAR FUNCTION BY GROWTH HORMONE
    Susan Berry; Fiscal Year: 2002
    ..1 gene expression, defining the IL-6 response element and the nuclear factors binding to Spi 2.1 in response to IL-6 with comparison to the GH response, thereby furthering understanding of the specificity of the Spi 2.1 response to GH. ..
  46. Mechanisms for immune tolerance in Pompe Disease
    Dwight D Koeberl; Fiscal Year: 2010
    ..These comparisons will guide preclinical experiments to further immunomodulatory gene therapy in Pompe disease and other lysosomal storage disorders. ..
  47. Prostaglandin D and skin cancer prevention
    Henry Lin; Fiscal Year: 2008
    ..Niacin as a booster of PGD2 may emerge as an agent to be studied for chemoprevention of skin cancer. [unreadable] [unreadable] [unreadable]..
  48. Anaplerotic therapy in Propionic Acidemia
    Nicola Longo; Fiscal Year: 2008
    ..This approach, if effective, could be extended to a number of other diseases, including other organic acidemias and mitochondrial disorders. [unreadable] [unreadable] [unreadable]..
  49. A Policy-Oriented History of Newborn Screening for PKU
    Diane Paul; Fiscal Year: 2006
    ..unreadable] [unreadable]..
  50. CONGENITAL CMV INFECTION IN OFFSPRING OF IMMUNE MOTHERS
    Suresh Boppana; Fiscal Year: 2005
    ....
  51. Quantifying Effects of Malnutrition on Cystic Fibrosis
    HuiChuan Lai; Fiscal Year: 2003
    ..longitudinal databases collected since 1985, namely, the CF Foundation Patient Registry and the Wisconsin CF Neonatal Screening Study database, we are enthusiastic to test the hypothesis that malnutrition predisposes CF patients to ..
  52. Quality of Communication after Newborn Genetic Screening
    Michael Farrell; Fiscal Year: 2007
    ..Progress in this area will generalize to other areas of communication and help streamline the implementation of new genetic testing technology. ..
  53. RESOURCES FOR INFANTS WITH NEWLY INDENTIFIED HEARING LOS
    Mary Pat Moeller; Fiscal Year: 2002
    ..A media advocacy program will also be implemented. The results should promote parental self-advocacy and independence in decision making. ..
  54. RESOURCES FOR INFANTS WITH NEWLY IDENTIFIED HEARING LOSS
    Mary Pat Moeller; Fiscal Year: 2006
    ..Information also will be re-purposed and expanded to meet the needs of the target professional audiences. The results of this effort should promote parent self-advocacy and independence in decision making. [unreadable] [unreadable]..
  55. WORD LEARNING IN INFANTS WITH HEARING LOSS
    Mary Pat Moeller; Fiscal Year: 2008
    ..The outcomes should provide direction for early interventionists in their efforts to promote nurturing caregiver-child interactions. [unreadable] [unreadable]..
  56. Attentional Dysfunction in Children with Phenylketonuria
    Georgianne Arnold; Fiscal Year: 2008
    ....
  57. Neutrophil Apoptosis and Neonatal Inflammation
    JOYCE KOENIG; Fiscal Year: 2009
    ..Thus, defining the biology of neutrophil apoptosis in the developing human is critical to future treatment modalities for CLD and other types of neonatal inflammation. ..
  58. PHONATION AND PHONATORY CONTROL IN VOCAL TREMORS
    Marshall Smith; Fiscal Year: 2002
    ..The experimental phase consists of studies of neuromuscular and respiratory input to the larynx. This information about vocal tremor will be applied to model simulations with the use of physiological signals as input model parameters. ..