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Newborn screening for SCID -Two Years of Screening for “Bubble Kids” at Sheba – A Success Story

Screening for "Bubble Kids"
After two years of conducting newborn screening for severe combined immunodeficiency (SCID) at Sheba Medical Center, results show that every SCID baby born in Israel was identified by the screening and diagnosed. So far, 14 SCID patients have been found, the vast majority of whom have no family history of the disease.

Prof. Raz Somech, the director of the Department of Pediatrics and the director of the Pediatric Immunology Unit at the Edmond and Lily Safra Children’s Hospital, has conducted newborn screening for SCID in Israel since the end of 2015. In total, 396,159 tests were performed, and 14 babies were diagnosed with SCID. Another 37 were diagnosed with different immunological disorders of varying severity – DiGeorge syndrome, for example.

The immune system protects people from different infections, and an immune deficiency can lead to severe illness. Babies born without an immune system are sometimes called “bubble children” due to the strict isolation conditions they require.

The Importance of Proper Treatment

Without adequate treatment including complete isolation, antibiotic treatment, and immune system replacement from a healthy donor, these babies do not survive. At birth, these babies typically seem healthy and show no signs of illness, but they begin to develop frequent illnesses after exposure to the environment. They require repeated hospitalizations, and some do not survive their first year of life.

In light of this, early diagnosis of these infants is critical, even before the disease manifests itself. An early diagnosis improves their chances of survival because transplantation of bone marrow from a donor – the standard procedure for saving their lives – can be carried out quickly before they are exposed to infections.

Rapid transplantation greatly reduces the rate of complications and the need for repeated and prolonged hospitalization which can cause unnecessary burden and suffering for the family.

The Future of the Treatment

Prof. Raz Somech’s laboratory at Sheba Medical Center is a leading nexus of infant immune deficiency screening.

Prof. Somech: “This survey uses advanced medical technology to achieve early diagnostics and provide preventative medicine. Since the introduction of the neonatal screening test, not a single infant with a significant immune deficiency disorder has been missed.

Infants with an immune system deficiency received appropriate treatment, and the complete recovery rate of those infants was much higher compared to the rate expected when the immune deficiency was diagnosed by clinical procedure alone. The neonatal survey is very successful, saving both lives and money. This project places Sheba Medical Center in the front line of advanced medicine, namely prevention and early diagnosis so that rapid treatment can prevent future morbidity. We are proud to say that Israel is the only country in the world where the survey is conducted in a national, coordinated, and free manner for every infant.

The medical world is eager to learn from our experience in performing the survey accurately and taking definitive action according to the results.”

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