Newborn Screening News and Research

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Early treatment may improve outcomes in Shwachman-Diamond syndrome

More than 90% of children born with the rare bone marrow condition called Shwachman-Diamond Syndrome (SDS) survive beyond age 20. But fewer than 30% live beyond age 50.

23 Sep 2026

Study reveals geographic gaps in breastfeeding initiation across America

A nationwide analysis led by a UC Riverside (Calif.) professor provides one of the clearest pictures yet of where mothers are least likely to begin breastfeeding their babies in the United States and what circumstances associate with lower rates.

20 Jul 2026

WHO urges countries to expand newborn screening for birth defects

The World Health Organization (WHO) today calls on countries to expand newborn screening for birth defects, highlighting how early detection and treatment can save lives and reduce lifelong disability for millions of children.

24 Jun 2026

Researchers urge caution over large-scale newborn genome screening

New research from large population studies provides invaluable evidence on genome screening of newborn babies to reduce risks from overdiagnosis.

15 Jun 2026

Noninvasive sequencing expands prenatal genetic screening capabilities

While non-invasive prenatal testing (NIPT) has revolutionised prenatal diagnostics by allowing the detection of a number of genetic problems in a fetus, it is currently limited and thus misses many genetic causes of abnormalities.

12 Jun 2026

Sickle cell disease care is unevenly distributed across regions in New York State

Sickle cell disease (SCD) is the most common inherited blood disorder in the United States. Approximately 10 percent of people with SCD in the US live in New York State, with the majority residing in New York City.

4 May 2026

Genomic sequencing may expand newborn screening beyond biochemical tests

Routine newborn screening (NBS) has transformed early disease detection. However, traditional biochemical tests limit the range of conditions that can be identified at birth. Next-generation sequencing is being explored as a complementary screening tool.

16 Mar 2026

Maternal antibodies protect newborns from severe E. coli infections, study finds

A multi-center study led by researchers at Cincinnati Children's sheds surprising new light on why some newborns become severely ill from Escherichia coli infection, but others do not.

11 Mar 2026

Mandated cCMV screening improves early identification of infant hearing loss

A new retrospective cohort study examining the impact of Minnesota's first-in-the-nation mandated universal newborn screening for congenital cytomegalovirus (cCMV) shows that universal screening significantly decreased the age at first audiology visit and increased identification of mild hearing loss in infants.

2 Mar 2026

Vitamin B3 shows promise for treating rare genetic disorder

Scientists at Gladstone Institutes have flipped the traditional approach to finding potential treatments for deadly diseases.

25 Feb 2026

Breakthrough gene therapy for sickle cell disease remains out of reach in Africa

As Uganda rolls out mandatory nationwide screening of newborns for sickle cell disease this month, a gene therapy celebrated in the United States and Europe remains financially out of reach for most patients in Africa.

25 Feb 2026

Combining gene and biomarker screening for newborn health

For more than six decades, biomarker-based newborn screening has played a pivotal role in reducing infant mortality and long-term disability by enabling early detection of metabolic and endocrine disorders.

23 Feb 2026

Next-generation sequencing expands possibilities for newborn screening

Every year, millions of newborns undergo routine screening as a preventive strategy to detect inherited disorders before symptoms emerge.

4 Feb 2026

Updated newborn screening guidelines aim to improve cystic fibrosis detection

An updated report on cystic fibrosis (CF) from Ann & Robert H. Lurie Children's Hospital of Chicago, in partnership with the Cystic Fibrosis Foundation and funded by the Centers for Disease Control and Prevention (CDC), highlights the new national guidelines on CF newborn screening that aim to detect affected babies earlier, more accurately and more fairly.

1 Feb 2026

AI predicts health outcomes for premature newborns from blood samples

An artificial intelligence-based tool can predict the medical trajectories of individual premature newborns from blood samples collected soon after they are born, a Stanford Medicine-led study has shown.

21 Jan 2026

Exploring cost-effective approaches to detecting familial hypercholesterolemia in children

In the United States, one in every 250 people has inherited a genetic variant that leads to dangerously high cholesterol levels from birth.

10 Nov 2025

Gene therapy shows long-term success in children with rare immune disorder

Results from the largest cohort of children who received a gene therapy for a rare immunodeficiency condition have shown the long-term safety and efficacy of the curative treatment, in a study led by a UCL researcher.

15 Oct 2025

How genomic screening in newborns found 16 hidden disorders standard tests overlooked

Genomic newborn screening using whole-genome sequencing identified 1.6% of infants with high-chance, treatable genetic conditions, far beyond the capacity of standard biochemical screening. The BabyScreen+ study demonstrated clinical impact, cascade diagnoses, and strong parental acceptance, while highlighting challenges in scalability and equity.

13 Oct 2025

Newborn genomic screening may detect hundreds of additional childhood conditions

Adding genomic sequencing to newborn blood screening would detect hundreds of additional childhood conditions, providing much earlier diagnosis and treatment, according to a new study. A baby's genome, which stays with them for life, could also be re-examined if a health issue arises during their lifetime.

9 Oct 2025

NIH funds multi-state pilot for genome sequencing in newborn screening

Mass General Brigham and Ariadne Labs, alongside Boston Children's Hospital, Albert Einstein College of Medicine, the Association of Public Health Laboratories (APHL), Case Western Reserve University, Baylor College of Medicine, and sequencing partners GeneDx and Illumina, today announced the launch of BEACONS (Building Evidence and Collaboration for GenOmics in Nationwide Newborn Screening), the nation's first multi-state genomic newborn screening initiative.

2 Oct 2025