Newborn Screening

Genomic sequencing may expand newborn screening beyond biochemical tests

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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. A review published in Pediatric Investigation examines how next-generation sequencing could expand NBS from single-disease assays to genome-enabled, multi-disease screening approaches. … Read more

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

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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. Turns out that most babies are immune because of germ-fighting antibodies they receive from their moms. The study, published March 11, 2026, in the prestigious journal Nature, … Read more

Mandated cCMV screening improves early identification of infant hearing loss

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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. The findings, published in Otolaryngology–Head and Neck Surgery, the peer-reviewed journal of the American Academy … Read more

Next-generation sequencing expands possibilities for newborn screening

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Every year, millions of newborns undergo routine screening as a preventive strategy to detect inherited disorders before symptoms emerge. Newborn screening (NBS) programs have traditionally relied on biochemical markers to identify specific groups of treatable conditions, achieving remarkable success at a population level. However, as researchers increasingly uncover genetically driven diseases that manifest early in … Read more

Updated newborn screening guidelines aim to improve cystic fibrosis detection

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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 … Read more

Machine learning model guides smarter gene selection in newborn screening

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More than a decade ago, researchers launched the BabySeq Project, a pilot program to return newborn genomic sequencing results to parents and measure the effects on newborn care. Today, over 30 international initiatives are exploring the expansion of newborn screening using genomic sequencing (NBSeq), but a new study by researchers from Mass General Brigham highlights … Read more

Updated screening protocols could improve early diagnosis of cystic fibrosis

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All states should adopt updated screening protocols so more newborns with cystic fibrosis can be diagnosed in the first weeks of life, when interventions can have the greatest benefit, according to the Cystic Fibrosis Foundation guidelines published April 2 in the International Journal of Neonatal Screening.  Current newborn screening protocols vary across states. Some states use outdated … Read more

New cystic fibrosis newborn screening guidelines aim for equitable detection

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The United States Cystic Fibrosis Foundation released the first guideline on newborn screening for cystic fibrosis (CF), in order to improve timely detection of CF in infants from all racial and ethnic backgrounds. The new guideline, based on systematic literature reviews and published in the International Journal of Neonatal Screening, reflects rigorous scientific investigation and … Read more