Newborn Screening News and Research

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Is there clinical value in screening healthy children with genome sequencing compared with a gene panel for medically actionable pediatric conditions?

Researchers compared the efficacy of proactive genome sequencing and a medically actionable gene panel in identifying potential risk for pediatric-onset disorders in healthy newborns and children.

2 Aug 2023

Late diagnosis of cystic fibrosis leads to poorer long-term health outcomes, study finds

The Journal of Pediatrics has published a manuscript by Stacey Martiniano, MD, pulmonary specialist at Children's Hospital Colorado and associate professor of pediatrics at the University of Colorado.

31 Jul 2023

New study findings underscore the importance of timely newborn screenings in early care for cystic fibrosis

29 Jul 2023

New campaign aims to reduce missed or delayed diagnosis of cystic fibrosis after newborn screening

Ann & Robert H. Lurie Children's Hospital of Chicago is leading an awareness campaign that aims to reduce missed or delayed diagnosis of cystic fibrosis after newborn screening, especially in non-White infants.

24 Jul 2023

Sickle cell disease: A global call to action

Reducing the burden of Sickle Cell Disease (SCD) requires substantial financial and political commitment to improving data-collection, diagnosis, treatment and training - doing so will positively impact the lives of millions of patients and families worldwide - says a new Commission published in The Lancet Haematology journal.

12 Jul 2023

Newborn screening for "bubble-baby" disease boosts survival of children

Screening newborns for severe combined immunodeficiency disease (SCID) significantly increases the survival of children after bone marrow transplantation, a new North American study finds.

21 Jun 2023

Newborn screening facilitates early identification of infants with severe combined immunodeficiency

Introducing widespread screening of newborns for a deadly disease called severe combined immunodeficiency, or SCID, followed by early treatment boosted the five-year survival rate of children with the disorder from 73% before the advent of screening to 87% since, researchers report.

20 Jun 2023

Study provides a more complete picture of sickle cell disease mortality burden

A new study suggests the number of deaths due to sickle cell disease is 11 times higher than what is indicated from mortality data sources alone. Sickle cell disease is not just underdiagnosed, but it also increases risk of infection and of death from conditions like stroke, heart problems, kidney problems, and pregnancy complications.

13 Jun 2023

ACMG publishes updated recommendations for CFTR carrier screening

The American College of Medical Genetics and Genomics (ACMG) has released updated recommendations for CFTR carrier screening –Updated recommendations for CFTR carrier screening: A position statement of the American College of Medical Genetics and Genomics.

13 Jun 2023

Newborn genome sequencing project identifies unanticipated disease risks

Genomic sequencing of newborns reveals unanticipated genetic risks, prompting actionable medical interventions and potential life-saving care for infants and their families. This study highlights the value of comprehensive sequencing in newborns for early detection and management of genetic conditions.

7 Jun 2023

Large-scale comprehensive sequencing helps downstream medical care in newborns

Researchers who lead the world's first comprehensive sequencing program for newborn infants have published the next chapter in the ongoing study of the BabySeq Project, with new findings on infants and families who have been followed for 3-5 years.

6 Jun 2023

The first thousand days of development

Study provides a bird's-eye view of the significant moments of the first thousand days of life.

25 May 2023

Study highlights a persistent life expectancy gap among patients living with sickle cell disease

While research has long established disparities in health outcomes among individuals living with sickle cell disease (SCD), few studies have quantified these gaps.

16 Mar 2023

Rare Diseases Action Plan for England focuses on providing better care and reducing health inequalities

A new Rare Diseases Action Plan for England will be published today (Tuesday 28 February) that will ensure those living with these conditions receive better care and treatment, fairer access to testing and have continued support.

28 Feb 2023

Newborn screenings more likely to miss cystic fibrosis diagnosis in non-white babies

Researchers call for better newborn screens across the U.S. Cystic fibrosis is missed more often in newborn screenings for non-white than white babies, creating higher risk for irreversible lung damage and other serious outcomes in Black, Hispanic, Asian, American Indian and Alaska Native newborns, a new study finds.

25 Oct 2022

Routine newborn screening for sickle cell disease urgently needed to save lives in Africa

More than 300,000 babies globally are born every year with sickle cell, a hereditary condition which causes red blood cells to become sickle-shaped.

5 Oct 2022

Newborns get routine heel blood tests, but should states keep those samples

Close to 4 million babies are born in the United States every year, and within their first 48 hours nearly all are pricked in the heel so their blood can be tested for dozens of life-threatening genetic and metabolic problems.

14 Sep 2022

Combination therapy regimen for cystic fibrosis is also beneficial to primary school-aged children

Cystic fibrosis remains an incurable genetic disorder which impairs lung function and significantly reduces life expectancy.

8 Aug 2022

Study finds disparities in first evaluation of infants with cystic fibrosis from minoritized groups

Infants from minoritized racial and ethnic backgrounds who have positive newborn screening tests for cystic fibrosis received their diagnostic follow-up for the disease later than recommended and later than white, non-Hispanic infants, according to a study published in the Journal of Cystic Fibrosis.

27 Jul 2022

Early identification and treatment can reduce financial costs associated with spinal muscular atrophy

New research published in Developmental Medicine & Child Neurology indicates that early identification and treatment of patients with spinal muscular atrophy (SMA)-; a genetic disorder characterized by weakness and wasting in muscles-; can reduce the total financial costs associated with the condition.

8 Jun 2022