Tuesday, June 20, 2023

Rare Disease News: Screening newborns for deadly immune disease saves lives

Widespread screening followed by early treatment boosted survival rate to 92.5%
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Tuesday, June 20, 2023

Screening newborns for deadly immune disease saves lives

Hand in light blue glove holds newborn's heel to a white card that absorbs a spot of blood.

A healthcare worker collects a few drops of blood from a pinprick to a newborn's heel for use in a test to screen the baby for an inherited disorder. The newborn screening test for severe combined immunodeficiency (SCID) uses blood collected the same way. Credit: U.S. Air Force photo/Staff Sgt Eric T. Sheler - USAF Photographic Archives

Introducing widespread newborn screening for severe combined immunodeficiency (SCID) followed by early treatment boosted the five-year survival rate of children with the deadly disease from 73% to 87%, NIAID researchers and colleagues report. Among children whose disease was suspected because of newborn screening rather than illness or family history, 92.5% survived five years or more after treatment. These findings demonstrate for the first time that newborn screening facilitated the early identification of infants with SCID and led to prompt treatment before life-threatening infections occurred, thereby increasing the proportion of children who survived to age 5 or beyond. The Lancet published the findings today.

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