Newborn Screening News and Research

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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

Improving ability to predict autism risk with few drops of blood

Improving ability to predict autism risk with few drops of blood

PerkinElmer provides newborn screening assay for PPMD’s New York State pilot program

PerkinElmer provides newborn screening assay for PPMD’s New York State pilot program

Researchers identify key biomarkers for predicting autism in newborns

Researchers identify key biomarkers for predicting autism in newborns

Mapping genetic links between diseases using data from electronic health records

Mapping genetic links between diseases using data from electronic health records

For newborns with hearing loss, screening opens window to a world of sound

For newborns with hearing loss, screening opens window to a world of sound

PWSA (USA) announces support for H.R.4144 - Ending the Diagnostic Odyssey Act of 2019

PWSA (USA) announces support for H.R.4144 - Ending the Diagnostic Odyssey Act of 2019

CDC to fund sickle cell disease surveillance

CDC to fund sickle cell disease surveillance

AGS patients more likely to suffer from sexual dysfunction, shows study

AGS patients more likely to suffer from sexual dysfunction, shows study

KHN’s ‘What the Health?’: Biden doubles down on Obamacare

KHN’s ‘What the Health?’: Biden doubles down on Obamacare

More screening and new treatments needed for sickle cell disease

More screening and new treatments needed for sickle cell disease

Novel method for evaluating genomic sequencing results in newborn screening

Novel method for evaluating genomic sequencing results in newborn screening

Blood test and mathematical model can estimate preterm birth rate in low-resource countries

Blood test and mathematical model can estimate preterm birth rate in low-resource countries

Study brings clarity about milk intake for children with Duarte galactosemia

Study brings clarity about milk intake for children with Duarte galactosemia

Single CRISPR treatment can safely and stably correct genetic disease

Single CRISPR treatment can safely and stably correct genetic disease