Newborn Screening

Last Posted: Nov-18-2016 10AM

 Newborn Screening expanded expanded

International differences in the evaluation of conditions for newborn bloodspot screening: a review of scientific literature and policy documents
MA Jansen et al, Eur J Human Genetics, November 16, 2016

Surprisingly few new parents enlist in study to have baby’s genome sequenced
J Kaiser,Science, October 19, 2016

Lab Quality Program Important to Newborn Screening

More information on this topic

Last Updated: Nov 16, 2016

• Differences in Outcomes between Early and Late Diagnosis of Cystic Fibrosis in the Newborn Screening Era.
  Coffey Michael J et al. The Journal of pediatrics 2016 Nov
• International differences in the evaluation of conditions for newborn bloodspot screening: a review of scientific literature and policy documents
  MA Jansen et al, Eur J Human Genetics, November 16, 2016
• Surprisingly few new parents enlist in study to have baby’s genome sequenced
  J Kaiser,Science, October 19, 2016
• Managing sickle cell carrier results generated through newborn screening in Ontario: a precedent-setting policy story
  RZ Hayeems et al, Genetics in Medicine, October 20, 2016
• Lab Quality Program Important to Newborn Screening 
• Beyond the Blood Spot: Newborn Screening for Hearing Loss and Critical Congenital Heart Disease
  CDC Public Health Grand Rounds, Septemeber 20, 2016
• A Population-Based Genomic Study of Inherited Metabolic Diseases Detected Through Newborn Screening.
  Park Kyoung Jin, et al. Annals of laboratory medicine 2016 11 (6) 561-72
• Long-term follow-up in newborn screening: the role of collaboration
  MP Wassertein, Genetics in Medicine, AUgust 25, 2016
• High prevalence of DUOX2 gene mutations among children with congenital hypothyroidism in central China.
  Jiang Hong, et al. European journal of medical genetics 2016 8
• Parent Experience With False-Positive Newborn Screening Results for Cystic Fibrosis.
  Hayeems Robin Z et al. Pediatrics 2016 Aug
• 221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative.
  Bentler Kristi, et al. Molecular genetics and metabolism 2016 7
• Newborn screening and prophylactic interventions for sickle cell disease in 47 countries in sub-Saharan Africa: a cost-effectiveness analysis.
  Kuznik Andreas et al. BMC health services research 2016 16(1) 304
• Infrastructure and Educational Needs of Newborn Screening Short-Term Follow-Up Programs within the Southeast Regional Newborn Screening & Genetics Collaborative: A Pilot Survey
  Disease: NA; Type: Data|Education|Program; State: Multiple States
• Showing Value in Newborn Screening: Challenges in Quantifying the Effectiveness and Cost-Effectiveness of Early Detection of Phenylketonuria and Cystic Fibrosis
  Disease: NA; Type: Data; State: Multiple States
• The M405V allele of the glutaryl-CoA dehydrogenase gene is an important marker for glutaric aciduria type I (GA-I) low excretors.
  Schillaci Lori-Anne P, et al. Molecular genetics and metabolism 2016 7

• CDC Information (12)
• CDC-Authored Pub (28)

• Human (81)
• Pathogen (0)

• Human (293)
• Pathogen (0)

• Human (227)
• Pathogen (0)

• Guidelines (11)
• Tier Table (0)
• Synthesis (27)

• Huamn (60)
• Pathogen (0)

Relevant Resources

• Genetics and Genomics Competencies Center (G2C2)
• NIH Genetic Testing Registry
• NIH MedGen Database
• Online Mendelian Inheritance in Man (OMIM)
• PharmGKB