Newborn Screening News and Research

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Parent Project Muscular Dystrophy successfully completes the Newborn Screening Pilot project

Parent Project Muscular Dystrophy (PPMD), a nonprofit organization leading the fight to end Duchenne muscular dystrophy (Duchenne), announced that the organization's Newborn Screening Pilot has successfully reached its completion, screening more than 36,000 babies born in New York State over the last two years.

8 Oct 2021

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

Researchers at Nemours Children's Health, Delaware have received a $10.5 million National Institutes of Health grant to support the Delaware Comprehensive Sickle Cell Research Program.

21 Sep 2021

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

With an average accuracy of 88%, a deep learning technology offers rapid genetic screening that could accelerate the diagnosis of genetic syndromes, recommending further investigation or referral to a specialist in seconds, according to a study published in The Lancet Digital Health.

2 Sep 2021

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

The underlying cause of sudden cardiac death (SCD) in a young person is often difficult to identify. A genetic analysis could provide more information in many cases, but blood samples are not collected routinely at the time of death, and DNA extracted from the tissues collected at autopsy is damaged because of the way they are fixed in formalin and paraffin-embedded.

30 Aug 2021

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

Gene therapy for spinal muscular atrophy might have a high up-front price tag. But by screening and treating infants early, the therapy can save both lives and money in the long term.

4 Aug 2021

Untargeted metabolomics profiling can improve diagnosis of metabolic disorders in newborns

A team led by researchers at Baylor College of Medicine found that a screening method known as untargeted metabolomics profiling can improve the diagnostic rate for inborn errors of metabolism, a group of rare genetic conditions, by about seven-fold when compared to the traditional metabolic screening approach.

12 Jul 2021

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

The door has finally opened on screening newborn babies for pyridoxine-dependent epilepsy (PDE), a severe inherited metabolic disorder. This screening promises to enable better and earlier treatment of the disease.

8 Jul 2021

Mouse model provides new understanding about Folling Disease

In Norway, all newborn children are tested for 25 rare genetic diseases through the Newborn Screening program, and the most common of these is phenylketonuria (abbreviated to PKU), known as Folling Disease.

7 Apr 2021

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

Type 1 diabetes is the most common metabolic disease in children and adolescents worldwide. It can be particularly dangerous as often there is no diagnosis until severe and sometimes life-threatening symptoms have already developed.

26 Mar 2021

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

In this interview, Oscar Millet, group leader of the Precision Medicine and Metabolism group of the CIC bioGUNE, talked to News Medical about his research into the use of nuclear magnetic resonance spectroscopy (NMR) metabolomic analysis as a clinical screening tool. His team has used NMR to screen urine samples form new-borns for congenital metabolic disorders.

From Bruker BioSpin - NMR, EPR and Imaging 20 Oct 2020

New technology precisely diagnoses sickle cell disease in a minute

Researchers at the University of Colorado Boulder and the University of Colorado Anschutz Medical Campus have developed a new way to diagnose diseases of the blood like sickle cell disease with sensitivity and precision and in only one minute.

15 Oct 2020

Study summarizes treatment and management of glutaric acidemia type 1

A new study summarizes over 30 years of clinical experience in the treatment and management of glutaric acidemia type 1 (GA1), a rare and potentially devastating metabolic disorder caused by variants in the GCDH gene.

14 Oct 2020

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

Expanding routine newborn screening to include a metabolic vulnerability profile could lead to earlier detection of life-threatening complications in babies born preterm, according to a study by UC San Francisco researchers.

7 Oct 2020

Genomic sequencing falls short as a standalone screening tool for newborns

With the rise of genomic sequencing, health technology companies are promising parents they can detect rare metabolic disorders in newborns who, despite a healthy appearance, may need immediate treatment.

10 Aug 2020

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

Masimo today announced the results of a prospective study published in the International Journal of Neonatal Screening in which researchers in Marrakesh, Morocco, conducted the first Moroccan study on critical congenital heart disease screening for newborns using Masimo SET pulse oximetry.

21 Jul 2020

Study finds more effective treatment for children with sickle cell anemia

A team of international researchers has learned that dose escalation of hydroxyurea treatment for children in Uganda with sickle cell anemia is more effective and has similar side effects than a lower fixed dose of the same drug.

25 Jun 2020

German researchers recommend early screening and treatment for spinal muscular atrophy

The advent of therapeutic interventions for spinal muscular atrophy (SMA) has increased the importance of presymptomatic diagnosis and treatment. When to start treatment in children with less severe disease remains controversial.

11 Jun 2020

Newborn screening guidelines updated for critical congenital heart disease

A distinguished panel of medical experts, state and federal health officials, and congenital heart disease parent advocates published recommended updates to the current American Academy of Pediatrics' protocol for detecting critical congenital heart disease (CCHD) in newborn babies using pulse oximetry.

4 Jun 2020

Newborn screening for spinal muscular atrophy promises a benefit

On behalf of the Federal Joint Committee, the Institute for Quality and Efficiency in Health Care investigated whether it is meaningful to test newborns in Germany for spinal muscular atrophy in combination with earlier diagnosis and treatment.

6 Apr 2020

Improving ability to predict autism risk with few drops of blood

Within days of birth, a few drops of blood are collected from every newborn in California--and across the United States -- which are then stored on filter paper and screened for dozens of genetic and congenital disorders, such as phenylketonuria, an inherited metabolic disorder that can result in intellectual disability, seizures, heart and behavioral problems.

13 Feb 2020