International Neonatal Screening Day Is June 28

The birth of a child is both a cause for celebration and a precious moment for gathering important information about the baby’s health. Where newborn screening is standard procedure, medical staff perform a simple blood test that can flag a number of serious conditions requiring quick treatment.

Globally, only 28% of newborns get tested, but in 2023 all 4.2 million babies born in Europe received some type of screening, according to a recent webinar hosted by Screen4Rare. About 4 million babies born annually in the United States also receive screening.

The idea to screen infants was born more than 50 years ago when U.S. microbiologist Robert Guthrie pioneered the idea of a blood test at birth to spot the metabolic disorder, phenylketonuria (PKU). Children with PKU have high levels of toxic phenylalanine, which eventually causes intellectual deficits. But PKU, if caught early, can be controlled with dietary changes, sparing the child.

Guthrie modified a bacterial inhibition assay he was using with cancer patients to test babies for phenylalanine, according to a 2021 article in the International Journal of Neonatal Screening. Thanks to Guthrie’s early activism, today “Guthrie tests” happen every day all over the world and babies with PKU and other conditions are diagnosed early and get a chance at a healthy future.

Today’s advocates for newborn screening include organizations such as Screen4Rare, whose founding members include the International Patient Organisation for Primary Immunodeficiencies (IPOPI); the International Society for Neonatal Screening (ISNS); and the European Society for Immunodeficiencies (ESID).

The Immune Deficiency Foundation (IDF) and the Jeffrey Modell Foundation also promote newborn testing. In 2018, U.S. advocates achieved a milestone when the last of the 50 states began testing routinely for Severe Combined Immunodeficiency (SCID), a catastrophic immune system condition that is fatal if not treated.

Together, these advocacy groups celebrate International Neonatal Screening Day on June 28, Guthrie’s birthday. Not only did he create the first screening test, but he championed neonatal testing for all newborns as standard procedure. Guthrie lobbied for the screening in the 1960s when much of the medical establishment thought rare diseases didn’t deserve time and resources.

Today, opinions have shifted but each country approaches the testing in its own way. Some countries screen for a few genetic diseases while others check for dozens, webinar participants said. Advocates say they try to offer guidance in a respectful way, understanding that countries have cultural differences and financial resources vary. The problem of false positives also needs to be addressed because they cause unnecessary anxiety, advocates said.

But early diagnoses save lives and money spent on treating undiagnosed children or those diagnosed later in life. One study at a British Columbia hospital found lower hospitalization rates for babies with congenital adrenal hyperplasia (CAH) who were screened at birth. Within days, 85% of the unscreened babies needed hospitalization, compared with 29% of the screened babies. Care cost $33,770 for an unscreened infant.

Screening for SCID has been “a massive success,” said Dr. Michael Albert, Stream Lead for the European Reference Network for rare immunological disorders. Screenings have decreased mortality and increased in quality of life because this devastating condition is “a curable disease [with] stem cell transplantation,” he said.