Newborn Screening News and Research

RSS

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

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