Neonatal Screening

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  Subject Areas on Research

  • 221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative. 
  • A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency. 
  • Analysis of educational materials and destruction/opt-out initiatives for storage and use of residual newborn screening samples. 
  • Antecedents and Outcomes of Abnormal Cranial Imaging in Moderately Preterm Infants. 
  • Association between Hyperbilirubinemia and Hearing Screen Failure in the Neonatal Intensive Care Unit in Infants Born Preterm. 
  • Benefits of newborn screening and hematopoietic cell transplant in infantile Krabbe disease. 
  • Clinical outcomes of children with abnormal newborn screening results for Krabbe disease in New York State. 
  • Combined immunodeficiency in the United States and Kuwait: Comparison of patients' characteristics and molecular diagnosis. 
  • Comparison of Transcutaneous and Serum Bilirubin Measurements in Neonates 30 to 34 Weeks' Gestation Before, During, and After Phototherapy. 
  • Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe disease. 
  • Consensus recommendations for the classification and long-term follow up of infants who screen positive for Krabbe Disease. 
  • Cost comparison of using reusable versus disposable equipment for retinopathy of prematurity screening rounds. 
  • Decision-making process for conditions nominated to the recommended uniform screening panel: statement of the US Department of Health and Human Services Secretary's Advisory Committee on Heritable Disorders in Newborns and Children. 
  • Detection and Prevention of Perinatal Infection: Cytomegalovirus and Zika Virus. 
  • Detection of subclinical fabry disease in patients presenting with hypertrophic cardiomyopathy. 
  • Diagnosis of immunodeficiency caused by a purine nucleoside phosphorylase defect by using tandem mass spectrometry on dried blood spots. 
  • Diagnosis of mitochondrial trifunctional protein deficiency in a blood spot from the newborn screening card by tandem mass spectrometry and DNA analysis. 
  • Diagnostic challenges of aminoacidopathies and organic acidemias in a developing country: a twelve-year experience. 
  • Digital microfluidic platform for multiplexing enzyme assays: implications for lysosomal storage disease screening in newborns. 
  • Digital microfluidics comes of age: high-throughput screening to bedside diagnostic testing for genetic disorders in newborns. 
  • Digital microfluidics: a future technology in the newborn screening laboratory? 
  • Early clinical phenotype of late onset Pompe disease: Lessons learned from newborn screening. 
  • Early detection of Pompe disease by newborn screening is feasible: results from the Taiwan screening program. 
  • Early onset neonatal sepsis: the burden of group B Streptococcal and E. coli disease continues. 
  • Effect of antenatal treatment of maternal periodontitis on early childhood neurodevelopment. 
  • Elevations of inflammatory proteins in neonatal blood are associated with obesity and overweight among 2-year-old children born extremely premature. 
  • Epidemiology of 21-hydroxylase deficiency in Singapore. 
  • Evaluation of 3-methylcrotonyl-CoA carboxylase deficiency detected by tandem mass spectrometry newborn screening. 
  • Evaluation of Gentamicin Exposure in the Neonatal Intensive Care Unit and Hearing Function at Discharge. 
  • Evaluation of X-Linked Adrenoleukodystrophy Newborn Screening in North Carolina. 
  • Evaluation of an indirect ophthalmoscopy digital photographic system as a retinopathy of prematurity screening tool. 
  • Evaluation of the accuracy of grading indirect ophthalmoscopy video images for retinopathy of prematurity screening. 
  • Experience with hyperphenylalaninemia in a developing country: unusual clinical manifestations and a novel gene mutation. 
  • Factors in Premature Infants Associated With Low Risk of Developing Retinopathy of Prematurity. 
  • Fiscal implications of newborn screening in the diagnosis of severe combined immunodeficiency. 
  • Genetic determinants of childhood and adult height associated with osteosarcoma risk. 
  • Genetic variability in beta-defensins is not associated with susceptibility to Staphylococcus aureus bacteremia. 
  • Genomics in the neonatal nursery: Focus on ROP. 
  • Glutaric acidemia type 1 in patients of Lumbee heritage from North Carolina. 
  • Glutaric acidemia, type I, missed by newborn screening in an infant with dystonia following promethazine administration. 
  • Glycogen storage disease types I and II: treatment updates. 
  • HIV-Infected Mothers' Foci of Concern During the Viral Testing of Their Infants 
  • Health and economic outcomes of newborn screening for infantile-onset Pompe disease. 
  • Heterogeneity of hemoglobin H disease in childhood. 
  • Hypothyroidism in Down syndrome: screening guidelines and testing methodology. 
  • ICON: the early diagnosis of congenital immunodeficiencies. 
  • Immune reconstitution and survival of 100 SCID patients post-hematopoietic cell transplant: a PIDTC natural history study. 
  • Improving preventive service delivery through office systems. 
  • In utero cytomegalovirus infection and development of childhood acute lymphoblastic leukemia. 
  • Infections in Infants with SCID: Isolation, Infection Screening, and Prophylaxis in PIDTC Centers. 
  • Insight into the phenotype of infants with Pompe disease identified by newborn screening with the common c.-32-13T>G "late-onset" GAA variant. 
  • Introduction to the Newborn Screening, Diagnosis, and Treatment for Pompe Disease Guidance Supplement. 
  • Laboratory analysis of amino acids, 2018 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG). 
  • Loss to follow up of failed hearing screen and missed opportunities to detect congenital cytomegalovirus are better identified with the implementation of a new electronic health record system protocol. 
  • Lymphocyte Galactocerebrosidase Activity by LC-MS/MS for Post-Newborn Screening Evaluation of Krabbe Disease. 
  • MRI surveillance of boys with X-linked adrenoleukodystrophy identified by newborn screening: Meta-analysis and consensus guidelines. 
  • Making Decisions About Krabbe Disease Newborn Screening. 
  • Management Considerations for Ongoing Pregnancies Complicated by Trisomy 13 and 18. 
  • Management of Confirmed Newborn-Screened Patients With Pompe Disease Across the Disease Spectrum. 
  • Multiplex newborn screening for Pompe, Fabry, Hunter, Gaucher, and Hurler diseases using a digital microfluidic platform. 
  • Mutations in TFAM, encoding mitochondrial transcription factor A, cause neonatal liver failure associated with mtDNA depletion. 
  • Mutations in genes required for T-cell development: IL7R, CD45, IL2RG, JAK3, RAG1, RAG2, ARTEMIS, and ADA and severe combined immunodeficiency: HuGE review. 
  • Naming and counting disorders (conditions) included in newborn screening panels. 
  • Newborn Screening for Lysosomal Storage Disorders: Quo Vadis? 
  • Newborn Screening for Severe Combined Immunodeficiency and T-cell Lymphopenia in California, 2010-2017. 
  • Newborn screening for Krabbe disease in New York State: the first eight years' experience. 
  • Newborn screening for Krabbe disease: the New York State model. 
  • Newborn screening for Pompe disease: synthesis of the evidence and development of screening recommendations. 
  • Newborn screening for X-linked adrenoleukodystrophy: evidence summary and advisory committee recommendation. 
  • Newborn screening for lysosomal storage disorders. 
  • Newborn tandem mass spectroscopy screening for adenosine deaminase deficiency. 
  • Newborn, carrier, and early childhood screening recommendations for fragile X. 
  • Non-contact retinal imaging compared to indirect ophthalmoscopy for retinopathy of prematurity screening: infant safety profile. 
  • Novel application of digital microfluidics for the detection of biotinidase deficiency in newborns. 
  • Open-label extension study following the Late-Onset Treatment Study (LOTS) of alglucosidase alfa. 
  • Outcome of Preterm Infants with Transient Cystic Periventricular Leukomalacia on Serial Cranial Imaging Up to Term Equivalent Age. 
  • Pompe disease in infants: improving the prognosis by newborn screening and early treatment. 
  • Poorer neurodevelopmental outcomes associated with cystoid macular edema identified in preterm infants in the intensive care nursery. 
  • Preliminary investigation of the use of newborn dried blood spots for screening pyridoxine-dependent epilepsy by LC-MS/MS. 
  • Primary Immune Deficiency Treatment Consortium (PIDTC) report. 
  • Rapid and effective screening for lysosomal storage disease: how close are we? 
  • Rapid assays for Gaucher and Hurler diseases in dried blood spots using digital microfluidics. 
  • Rapid diagnosis of homocystinuria and other hypermethioninemias from newborns' blood spots by tandem mass spectrometry. 
  • Rapid diagnosis of maple syrup urine disease in blood spots from newborns by tandem mass spectrometry. 
  • Rapid diagnosis of phenylketonuria by quantitative analysis for phenylalanine and tyrosine in neonatal blood spots by tandem mass spectrometry. 
  • Rare disorders of metabolism with elevated butyryl- and isobutyryl-carnitine detected by tandem mass spectrometry newborn screening. 
  • Real-World Simulation of an Alternative Retinopathy of Prematurity Screening System in Thailand: A Pilot Study. 
  • Referable Macular Hemorrhage-A Clinically Meaningful Screening Target in Newborn Infants. Position Statement of the Association of Pediatric Retina Surgeons. 
  • Refractive errors and strabismus in premature Asian infants with and without retinopathy of prematurity. 
  • Retinopathy of prematurity risk prediction for infants with birth weight less than 1251 grams. 
  • Retinopathy of prematurity: the disease process, classifications, screening, treatment, and outcomes. 
  • Risk of development of treated retinopathy of prematurity in very low birth weight infants. 
  • Screening examination of premature infants for retinopathy of prematurity. 
  • Screening for critical congenital heart disease in newborns using pulse oximetry: evaluation of nurses' knowledge and adherence. 
  • Screening for primary immunodeficiency diseases and follow-up testing. 
  • Severe Cardiac Involvement Is Rare in Patients with Late-Onset Pompe Disease and the Common c.-32-13T>G Variant: Implications for Newborn Screening. 
  • Stanford University Network for Diagnosis of Retinopathy of Prematurity (SUNDROP): 18-month experience with telemedicine screening. 
  • Stanford University Network for Diagnosis of Retinopathy of Prematurity (SUNDROP): 24-month experience with telemedicine screening. 
  • Successful diagnosis of HIBCH deficiency from exome sequencing and positive retrospective analysis of newborn screening cards in two siblings presenting with Leigh's disease. 
  • Tandem mass spectrometry: a new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism. 
  • The Association of Accessory Auricular Tissue With Solid Organ Abnormalities and Its Effect on Auditory and Vestibular Function. 
  • The Effect of WIC on the Health of Newborns 
  • The Initial Evaluation of Patients After Positive Newborn Screening: Recommended Algorithms Leading to a Confirmed Diagnosis of Pompe Disease. 
  • The North Carolina Experience with Mucopolysaccharidosis Type I Newborn Screening. 
  • The Role of Technology in Newborn Screening. 
  • The Success of State Newborn Screening Policies for Critical Congenital Heart Disease. 
  • The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease. 
  • The long quest for neonatal screening for severe combined immunodeficiency. 
  • The tandem mass spectrometry newborn screening experience in North Carolina: 1997-2005. 
  • Three cases of multi-generational Pompe disease: Are current practices missing diagnostic and treatment opportunities? 
  • Thyroid hormone levels in term and preterm neonates. 
  • Transforming the clinical outcome in CRIM-negative infantile Pompe disease identified via newborn screening: the benefits of early treatment with enzyme replacement therapy and immune tolerance induction. 
  • Trends in Retinopathy of Prematurity Screening and Treatment: 2008-2018. 
  • Validity of a telemedicine system for the evaluation of acute-phase retinopathy of prematurity. 
  • Variations in IBD (ACAD8) in children with elevated C4-carnitine detected by tandem mass spectrometry newborn screening. 
  • Why newborn screening for severe combined immunodeficiency is essential: a case report. 
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  Keywords of People

  • Buckley, Rebecca Hatcher, James Buren Sidbury Distinguished Professor Emeritus of Pediatrics, in the School of Medicine, Pediatrics, Allergy and Immunology