Newborn Screening News and Research

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Trends in SARS-CoV-2 seroprevalence in Massachusetts

Trends in SARS-CoV-2 seroprevalence in Massachusetts

Parent Project Muscular Dystrophy successfully completes the Newborn Screening Pilot project

Parent Project Muscular Dystrophy successfully completes the Newborn Screening Pilot project

Nemours receives $10.5 million NIH grant to support research in sickle cell disease

Nemours receives $10.5 million NIH grant to support research in sickle cell disease

Researchers develop a machine learning-based screening tool for genetic syndromes in children

Researchers develop a machine learning-based screening tool for genetic syndromes in children

Molecular autopsy of dried blood spots can identify underlying cause of sudden cardiac death in a young person

Molecular autopsy of dried blood spots can identify underlying cause of sudden cardiac death in a young person

Newborn screening and early treatment for spinal muscular atrophy can save both lives and money

Newborn screening and early treatment for spinal muscular atrophy can save both lives and money

Untargeted metabolomics profiling can improve diagnosis of metabolic disorders in newborns

Untargeted metabolomics profiling can improve diagnosis of metabolic disorders in newborns

Biomarker discovery can open door to screening newborn babies for pyridoxine-dependent epilepsy

Biomarker discovery can open door to screening newborn babies for pyridoxine-dependent epilepsy

Mouse model provides new understanding about Folling Disease

Mouse model provides new understanding about Folling Disease

New ‘SINT1A‘ study explores potential of a probiotic to prevent type 1 diabetes in children

New ‘SINT1A‘ study explores potential of a probiotic to prevent type 1 diabetes in children

NMR Metabolomics as Novel Screening Tool for New-borns (For Research Only)

NMR Metabolomics as Novel Screening Tool for New-borns (For Research Only)

New technology precisely diagnoses sickle cell disease in a minute

New technology precisely diagnoses sickle cell disease in a minute

Study summarizes treatment and management of glutaric acidemia type 1

Study summarizes treatment and management of glutaric acidemia type 1

Expanded screening method can help detect life-threatening complications in preterm babies

Expanded screening method can help detect life-threatening complications in preterm babies

Genomic sequencing falls short as a standalone screening tool for newborns

Genomic sequencing falls short as a standalone screening tool for newborns

Study shows feasibility of using Masimo SET pulse oximetry for CCHD screening

Study shows feasibility of using Masimo SET pulse oximetry for CCHD screening

Study finds more effective treatment for children with sickle cell anemia

Study finds more effective treatment for children with sickle cell anemia

German researchers recommend early screening and treatment for spinal muscular atrophy

German researchers recommend early screening and treatment for spinal muscular atrophy

Newborn screening guidelines updated for critical congenital heart disease

Newborn screening guidelines updated for critical congenital heart disease

Newborn screening for spinal muscular atrophy promises a benefit

Newborn screening for spinal muscular atrophy promises a benefit