Newborn Screening News and Research

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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

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

PerkinElmer, Inc., a global leader committed to innovating for a healthier world, today announced that it is providing the newborn screening assay for Parent Project Muscular Dystrophy’s Newborn Screening Pilot for Duchenne Muscular Dystrophy (Duchenne).

From PerkinElmer 14 Jan 2020

Researchers identify key biomarkers for predicting autism in newborns

Because early detection of autism is linked to significantly improved outcomes, the discovery of early predictors could make all the difference in a child's development.

2 Jan 2020

Mapping genetic links between diseases using data from electronic health records

Physicians use standard disease classifications based on symptoms or location in the body to help make diagnoses. These classifications, called nosologies, can help doctors understand which diseases are closely related, and thus may be caused by the same underlying issues or respond to the same treatments.

9 Dec 2019

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

Four-year-old Betty Schottler starts each morning with the same six sounds: [m], [ah], [oo], [ee], [sh], and [s].

19 Nov 2019

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

Today, PWSA (USA) announced its support for H.R.4144 - Ending the Diagnostic Odyssey Act of 2019, a bill to enable States to better provide access to whole genome sequencing clinical services for certain undiagnosed children under the Medicaid program, and for other purposes.

27 Sep 2019

CDC to fund sickle cell disease surveillance

The Centers for Disease Control and Prevention (CDC) has announced a funding of $1.2 million to different states in order to collect data and information from people suffering from sickle cell disease. The program called the Sickle Cell Data Collection program or SCDC is at present functional in two states - California and Georgia. With the new funds coming in, nine states would be able to collect and send population based information on the health of persons living with sickle cell disease.

27 Sep 2019