Newborn Screening News and Research

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PerkinElmer expands genomic testing services with ultrarapid whole genome sequencing

PerkinElmer, Inc., a global leader committed to innovating for a healthier world, today announced the availability of ultrarapid whole genome sequencing (urWGS) through PerkinElmer Genomics.

From Revvity 17 May 2022

Blood adenosine levels positively correlate to the white matter lesions in very low birth weight premature infants

Prematurity affects about 10% of pregnancies worldwide each year. In about 20% of very low birth weight (VLBW) premature infants, punctate white matter lesions (PWML) can be diagnosed at MRI at term equivalent age.

13 May 2022

New Clinical Practice Resource released to guide the treatment of patients with hearing loss

The American College of Medical Genetics and Genomics has released a new Clinical Practice Resource that will help direct the treatment of patients with hearing loss: "Clinical Evaluation and Etiologic Diagnosis of Hearing Loss: A Clinical Practice Resource of the American College of Medical Genetics and Genomics."

10 May 2022

Low-cost test could open new avenues for earlier diagnosis, treatment of rare genetic disorders

A newly developed test to screen for three rare genetic disorders simultaneously in newborns was feasible, reliable and scalable, according to a new study.

24 Jan 2022

Multiplex proteomic panel assay for assessment of disease severity and outcome prediction in COVID-19

According to the authors of a new study, multiplex protein panel assay could support clinical decision-making, guide the development of novel treatments, and expand the risk assessment procedures for COVID-19.

7 Dec 2021

Trends in SARS-CoV-2 seroprevalence in Massachusetts

A new study reported findings from a retrospective, de-identified and systematic survey of SARS-CoV-2 seroprevalence among childbearing women in Massachusetts.

2 Nov 2021

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

Newborn Screening News and Research

PerkinElmer expands genomic testing services with ultrarapid whole genome sequencing

Blood adenosine levels positively correlate to the white matter lesions in very low birth weight premature infants

New Clinical Practice Resource released to guide the treatment of patients with hearing loss

Low-cost test could open new avenues for earlier diagnosis, treatment of rare genetic disorders

Multiplex proteomic panel assay for assessment of disease severity and outcome prediction in COVID-19

Trends in SARS-CoV-2 seroprevalence in Massachusetts

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

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

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

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

Mouse model provides new understanding about Folling Disease

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)

New technology precisely diagnoses sickle cell disease in a minute

Study summarizes treatment and management of glutaric acidemia type 1

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

Genomic sequencing falls short as a standalone screening tool for newborns

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