title: Newborn screening: a review of history, recent advancements, and future perspectives in the era of next generation sequencing.
abstract: The purpose of this review is to summarize the development and recent advancements of newborn screening.
  
  
  
  Early initiation of medical care has modified the outcome for many disorders that were previously associated with high morbidity (such as cystic fibrosis, primary immune deficiencies, and inborn errors of metabolism) or with significant neurodevelopmental disabilities (such as phenylketonuria and congenital hypothyroidism). The new era of mass spectrometry and next generation sequencing enables the expansion of the newborn screen panel, and will help to address technical issues such as turnaround time, and decreasing false-positive and false-negative rates for the testing.
  
  
  
  The newborn screening program is a successful public health initiative that facilitates early diagnosis of treatable disorders to reduce long-term morbidity and mortality.
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Texas Children's Hospital, Houston, Texas, USA.
authors.forename: Mohammed
authors.initials: M
authors.lastname: Almannai
authors.forename: Ronit
authors.initials: R
authors.lastname: Marom
authors.forename: V Reid
authors.initials: VR
authors.lastname: Sutton
mesh_terms: D015415:Biomarkers / Q000097:blood; D042241:Early Diagnosis; D005819:Genetic Markers; D005820:Genetic Testing / Q000266:history* / Q000379:methods / Q000639:trends; D049673:History, 20th Century; D049674:History, 21st Century; D006801:Humans; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000097:blood / Q000175:diagnosis / Q000235:genetics / Q000266:history*; D015997:Neonatal Screening / Q000266:history* / Q000379:methods / Q000639:trends; D014481:United States; D000073336:Whole Genome Sequencing / Q000266:history* / Q000379:methods / Q000639:trends
chemical_list: D015415:Biomarkers; D005819:Genetic Markers