Newborn screening [NEW TOPIC PAGE] Newborn Screening and Genome Sequencing

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From CDC-Authored Genomics Publication Database

This database contains CDC-authored publications in public health genomics including infectious diseases, newborn screening, reproductive health, genetic testing, cancer, chronic diseases, birth defects and developmental disabilities, environmental and occupational health as well as laboratory, bioinformatics and statistical methods.

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• Using Decision Analysis to Support Newborn Screening Policy Decisions: A Case Study for Pompe Disease.
  Prosser Lisa A et al. MDM policy & practice 3(1)
• Primary Care Provider Management of Congenital Hypothyroidism Identified Through Newborn Screening.
  Rosenthal N A et al. Annals of thyroid research 2017 3(1) 95-101
• Liquid Chromatography-Tandem Mass Spectrometry Assay of Leukocyte Acid a-Glucosidase for Post-Newborn Screening Evaluation of Pompe Disease.
  Lin Na et al. Clinical chemistry 2017 Feb
• Newborn screening for X-linked adrenoleukodystrophy: evidence summary and advisory committee recommendation.
  Kemper Alex R et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 19(1) 121-126
• A framework for assessing outcomes from newborn screening: on the road to measuring its promise.
  Hinton Cynthia F et al. Molecular genetics and metabolism 2016 May
• The Use of Economic Evaluation to Inform Newborn Screening Policy Decisions: The Washington State Experience.
  Grosse Scott D et al. The Milbank quarterly 2016 94(2) 366-91
• Cost-Effectiveness/Cost-Benefit Analysis of Newborn Screening for Severe Combined Immune Deficiency in Washington State.
  Ding Yao et al. The Journal of pediatrics 2016 Feb
• The health system impact of false positive newborn screening results for medium-chain acyl-CoA dehydrogenase deficiency: a cohort study.
  Karaceper Maria D et al. Orphanet journal of rare diseases 2016 Feb 1112
• Showing Value in Newborn Screening: Challenges in Quantifying the Effectiveness and Cost-Effectiveness of Early Detection of Phenylketonuria and Cystic Fibrosis.
  Grosse Scott D et al. Healthcare (Basel, Switzerland) 2015 3(4) 1133-57
• Observed and expected frequencies of structural hemoglobin variants in newborn screening surveys in Africa and the Middle East: deviations from Hardy-Weinberg equilibrium.
  Piel Frédéric B et al. Genetics in medicine : official journal of the American College of Medical Genetics 2015 Dec
• A Cost-Effectiveness Analysis of a Pilot Neonatal Screening Program for Sickle Cell Anemia in the Republic of Angola.
  McGann Patrick T et al. The Journal of pediatrics 2015 Dec 167(6) 1314-9
• Simultaneous quantitation of hexacosanoyl lysophosphatidylcholine, amino acids, acylcarnitines, and succinylacetone during FIA-ESI-MS/MS analysis of dried blood spot extracts for newborn screening.
  Haynes Christopher A et al. Clinical biochemistry 2015 Oct
• Congenital adrenal hyperplasia cases identified by newborn screening in one- and two-screen states.
  Held Patrice K et al. Mol. Genet. Metab. 2015 Aug 12.
• Detection of critical congenital heart defects: Review of contributions from prenatal and newborn screening.
  Olney Richard S et al. Semin. Perinatol. 2015 Apr 39(3) 230-7
• Improving newborn screening for cystic fibrosis using next-generation sequencing technology: a technical feasibility study.
  Baker Mei W et al. Genet. Med. 2015 Feb 12.
• Incidence of sickle cell trait--United States, 2010.
  Ojodu Jelili et al. MMWR Morb. Mortal. Wkly. Rep. 2014 Dec 12. 63(49) 1155-8
• Universal state newborn screening programs can reduce health disparities.
  Brosco Jeffrey P et al. JAMA Pediatr 2015 Jan 169(1) 7-8
• The stability of hexacosanoyl lysophosphatidylcholine in dried-blood spot quality control materials for X-linked adrenoleukodystrophy newborn screening.
  Haynes Christopher A et al. Clin. Biochem. 2015 Jan 48(1-2) 8-10
• Mortality of New York children with sickle cell disease identified through newborn screening.
  Wang Ying et al. Genet. Med. 2015 Jun 17(6) 452-9
• Succinylacetone as primary marker to detect tyrosinemia type I in newborns and its measurement by newborn screening programs.
  De Jesús Víctor R et al. Mol. Genet. Metab. 113(1-2) 67-75
• Reflections on 50 years of newborn screening.
  Boyle Coleen A et al. Pediatrics 2014 Jun 133(6) 961-3
• A public health economic assessment of hospitals' cost to screen newborns for critical congenital heart disease.
  Peterson Cora et al. Public Health Rep 129(1) 86-93
• Developing a public health-tracking system for follow-up of newborn screening metabolic conditions: a four-state pilot project structure and initial findings.
  Hinton Cynthia F et al. Genet. Med. 2014 Jun 16(6) 484-90
• Newborn screening: from Guthrie to whole genome sequencing.
  Caggana Michele et al. Public Health Rep 128 Suppl 214-9
• Newborn screening for critical congenital heart disease: essential public health roles for birth defects monitoring programs.
  Olney Richard S et al. Birth Defects Res. Part A Clin. Mol. Teratol. 2012 Dec 94(12) 965-9
• Public health action in genomics is now needed beyond newborn screening.
  Bowen M S et al. Public health genomics 2012 15(6) 327-34
• Improving newborn screening follow-up in pediatric practices: quality improvement innovation network.
  Hinton Cynthia F et al. Pediatrics 2012 Sep 130(3) e669-75
• CDC Grand Rounds: Newborn screening and improved outcomes.
  et al. MMWR. Morbidity and mortality weekly report 2012 Jun 61(21) 390-3
• Improved analysis of C26:0-lysophosphatidylcholine in dried-blood spots via negative ion mode HPLC-ESI-MS/MS for X-linked adrenoleukodystrophy newborn screening.
  Haynes Christopher A et al. Clin. Chim. Acta 2012 Aug 16. 413(15-16) 1217-21
• Decision analysis, economic evaluation, and newborn screening: challenges and opportunities.
  Prosser Lisa A et al. Genet. Med. 2012 Apr 5.
• Evidence-based path to newborn screening for Duchenne muscular dystrophy.
  Mendell Jerry R et al. Ann. Neurol. 2012 Mar 71(3) 304-13
• Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria.
  Mechtler Thomas P et al. Lancet 2012 Jan 28. 379(9813) 335-41
• The role of health technology assessment in coverage decisions on newborn screening.
  Fischer Katharina E et al. International journal of technology assessment in health care 2011 Oct 27(4) 313-21
• The stability of markers in dried-blood spots for recommended newborn screening disorders in the United States.
  Adam B W et al. Clin. Biochem. 2011 Dec 44(17-18) 1445-50
• Ethical implications and practical considerations of ethnically targeted screening for genetic disorders: the case of hemoglobinopathy screening.
  Hinton Cynthia F et al. Ethn Health 16(4-5) 377-88
• What questions should newborn screening long-term follow-up be able to answer? A statement of the US Secretary for Health and Human Services' Advisory Committee on Heritable Disorders in Newborns and Children.
  Hinton Cynthia F et al. Genet. Med. 2011 Oct 13(10) 861-5
• Birth prevalence rates of newborn screening disorders in relation to screening practices in the United States.
  Hertzberg Vicki S et al. J. Pediatr. 2011 Oct 159(4) 555-60
• The Environmental Determinants of Diabetes in the Young (TEDDY): genetic criteria and international diabetes risk screening of 421 000 infants.
  Hagopian William A et al. Pediatr Diabetes 2011 Dec 12(8) 733-43
• Newborn bloodspot screening for lysosomal storage disorders.
  Zhou Hui et al. J. Pediatr. 2011 Jul 159(1) 7-13.e1
• Variation in immunoreactive trypsinogen concentrations among Michigan newborns and implications for cystic fibrosis newborn screening.
  Korzeniewski Steven J et al. Pediatric pulmonology 2011 Feb 46(2) 125-30

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