Early diagnosis and care

Objective 1: To promote early diagnosis & ensure optimal access to care

SCID Newborn Screening campaign

Reasons’ for newborn screening for SCID

SCID is a paediatric emergency that meets all the criteria to be included in the national newborn screening programmes.

SCID is the most severe form of PIDs. Children born with SCID lack a working immune system. They are only partially protected from infection in the first few weeks of life thanks to maternal antibodies. Once these antibodies disappear from the child’s system, the child will be prone to severe infections that either threaten survival or seriously compromise the child’s health beyond the first year of life.

By performing systematic screening programmes at birth for SCID, children born with this condition can have a timely access to haematopoietic stem cell transplantation (HSCT), a curative surgery for SCID. As a curative treatment, a timely HSCT allows babies’ immune system can be rebuilt and hence, cured for life. An alternative curative therapy is gene therapy that may be administered when HSCT cannot be performed. Newborn screening for SCID will enable a prompt diagnosis and fast access to treatment and will contribute to saving many babies lives. This is why IPOPI is committed to ensure its implementation both in Europe and other regions of the world.

For many years, the incidence of SCID in newborns was unknown, as many of these babies would pass away before they could be diagnosed. Since 2010, the United States included SCID in the national recommended uniform panel for newborn screened disorders. Data pooled from 10 states plus the Navajo Area shows that 52 cases of SCID were detected out of 3,030,083 newborns screened. Babies diagnosed with SCID and treated through transplantation, enzyme replacement and/or gene therapy survived in 92% of the cases. (Information based on Kwan A, Abraham RS, Currier R, et al. Newborn Screening for Severe Combined Immunodeficiency in 11 Screening Programs in the United States. JAMA. 2014;312(7):729-738. doi:10.1001/jama.2014.9132.)

More information on the status of SCID newborn screening implementation in the United States on Primary Immunodeficiency Foundation (IDF) website!