Newborn Screening News and Research

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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 Revvity 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

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

AdrenoGenital Syndrome (AGS) encompasses a group of inherited metabolic disorders caused by a disruption in steroid hormone production in the adrenal cortex.

25 Sep 2019

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

Former Vice President Joe Biden has said if he's elected president he would build on the Affordable Care Act rather than move to a whole new health care system, such as the "Medicare for All" plan supported by some of his primary opponents for the Democratic nomination.

19 Jul 2019

More screening and new treatments needed for sickle cell disease

The promise of new treatments for sickle cell disease, a group of inherited red blood cell disorders, has never been so great, but it will only be realized if there is constant investment in health policies such as programs for screening newborns, especially in sub-Saharan Africa, where most cases occur.

13 Jun 2019

Novel method for evaluating genomic sequencing results in newborn screening

Newborn screening is required in the U.S. and differs slightly depending on which state you live in. For the most part, it's done before a newborn baby leaves the hospital and includes a blood test that screens for 30-50 serious health problems that usually arise in infancy or childhood, and could hinder normal development.

26 May 2019

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

Preterm birth is a leading cause of death among children under the age of five, with low resource countries facing the greatest challenge.

19 Mar 2019

Study brings clarity about milk intake for children with Duarte galactosemia

Milk can be lethal to babies with classic galactosemia, a rare genetic disorder that severely impairs the body's ability to process a milk sugar known as galactose and is associated with a host of neurodevelopmental issues.

19 Mar 2019

Single CRISPR treatment can safely and stably correct genetic disease

Researchers at Duke University have shown that a single systemic treatment using CRISPR genome editing technology can safely and stably correct a genetic disease -- Duchenne muscular dystrophy (DMD) -- for more than a year in mice, despite observed immune responses and alternative gene editing outcomes.

18 Feb 2019

Scientists discover new biomarkers for early detection of cystic fibrosis

Scientists at McMaster University have discovered several new biomarkers from a single drop of blood that could allow earlier and more definitive detection of cystic fibrosis, a genetic disease which strikes both children and adults, causing chronic problems with the digestive system and the lungs.

20 Dec 2018