International Neonatal Screening Day is June 28

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

Globally, only 28% of newborns are tested, but in 2023 all 4.2 million babies born in Europe will receive some kind of screening, according to a recent webinar organized by Screen4Rare. About 4 million babies born each year in the United States also receive screening.

The idea to screen babies was born more than 50 years ago when American microbiologist Robert Guthrie pioneered the idea of ​​a blood test at birth to detect 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 around the world, and babies with PKU and other diseases are diagnosed early and given a chance at a healthy future.

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

The Immune Deficiency Foundation (IDF) and the Jeffrey Modell Foundation also promote newborn testing. In 2018, US attorneys reached a milestone when the last of the 50 states began routinely testing for Severe Combined Immunodeficiency (SCID), a catastrophic immune system condition that is fatal if left untreated.

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 advocated neonatal testing for all newborns as standard procedure. Guthrie lobbied for screening in the 1960s, when most of the medical establishment felt that rare diseases did not deserve the time and resources.

Today, opinions have changed, but each country approaches testing in its own way. Some countries screen for a few genetic diseases, while others screen for dozens, webinar participants said. Advocates say they try to provide 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. A study at a British Columbia hospital found lower rates of hospitalization for babies with congenital adrenal hyperplasia (CAH) who were screened at birth. Within days, 85% of unscreened babies needed hospitalization, compared with 29% of screened babies. Care cost $33,770 for an unscreened infant.

Screening for SCID has been “a massive success,” said Dr. Michael Albert, Stream Leader for the European Reference Network for Rare Immunological Disorders. Screenings have reduced mortality and increased quality of life because this devastating condition is “a curable disease [with] stem cell transplantation,” he said.