Early Identification of Severe Combined Immunodeficiency (SCID) Through Newborn Screening
Severe Combined Immunodeficiency (SCID) is a rare, life-threatening genetic disorder that severely impairs the immune system’s ability to protect the body from infections. SCID is often called bubble boy disease" due to its portrayal in popular culture. Infants born with SCID lack functional T cells and, in some cases, B cells, rendering them highly susceptible to a wide range of infections that can be fatal if not diagnosed and treated promptly. Newborn screening for SCID has emerged as a crucial tool in identifying affected infants early, allowing for timely intervention and improving their chances of survival and long-term health.
What is SCID and its Impact?
Mutations in various genes responsible for the development and function of immune cells cause SCID. As a result, infants with SCID have a compromised immune response, leading to recurrent and severe infections involving multiple organ systems. These infections can be caused by microbes/microorganisms that are usually harmless in individuals with a normal immune system. Without treatment, SCID infants often do not survive beyond their first year due to these overwhelming infections.
Role of Newborn Screening
Newborn screening tests help identify conditions in newborns that might not be visible or symptomatic at birth but can lead to serious health problems if not detected early. It involves a series of tests performed shortly after birth to screen for various disorders, including metabolic, genetic, and immune system disorders.
Science Behind SCID Newborn Screening
SCID newborn screening involves analyzing a small blood sample from a newborn’s heel. The sample is then tested for T-cell receptor excision circles (TRECs) and kappa-deleting recombination excision circles (KRECs). TRECs and KRECs are small pieces of DNA produced during the development of T and B cells, respectively. A low level of TRECs and KRECs indicates that the baby’s immune system might not be functioning properly, which could indicate SCID or other immune deficiencies.
Benefits of Newborn Screening Test
Implementing newborn screening for SCID has significantly improved the lives of affected infants and their families. Early detection allows for timely medical intervention, often before symptoms manifest. Infants diagnosed with SCID through newborn screening can receive specialized medical care, including immune-restoring treatments like bone marrow transplantation and gene therapy. These interventions can restore immune function and help one to live a normal life.
While newborn screening for SCID offers immense benefits, there are challenges to its widespread implementation. The sensitivity and specificity of the screening tests must be carefully calibrated to avoid false positives and negatives. Genetic counseling and family support are also essential components of the screening process.
Newborn screening for Severe Combined Immunodeficiency has revolutionized diagnosing and treating this life-threatening condition. By identifying SCID in its earliest stages with Labsystems Diagnostics NeoNat SCID Real-time PCR kit, healthcare professionals can intervene with life-saving treatments, improving outcomes for affected infants. The induction of Real-Time PCR-based tests in NBS-SCID provides highly reliable results due to its higher sensitivity and specificity in a shorter analysis time.