Expanded Metabolic Screening

Early diagnosis enables prompt initiation of treatment, which can significantly improve the prognosis. Treatments like hematopoietic stem cell transplantation (HSCT), enzyme replacement therapy, or gene therapy can be more effective when started early in life.

SCID patients are susceptible to life-threatening infections. Early diagnosis allows for the implementation of infection prevention measures, such as isolation, prophylactic antibiotics, and immunoglobulin replacement therapy, reducing the risk of infections.

By minimizing the occurrence of infections and starting appropriate treatments, early diagnosis can help promote normal growth and development in children with SCID.

Early diagnosis and intervention have been shown to improve overall survival rates for SCID patients, particularly when HSCT is performed before the onset of severe infections.

Early diagnosis can provide valuable information for families about the risk of future children being affected by SCID. This can help with family planning and facilitate informed decision-making regarding prenatal testing or in-vitro fertilization with pre-implantation genetic diagnosis.

Early diagnosis can help families access essential psychosocial support services to cope with the challenges associated with having a child with SCID. This includes connecting with support groups, mental health professionals, and educational resources to better understand and manage the condition.

Identifying patients with SCID early can help researchers study the natural history of the disease, evaluate the effectiveness of various treatment options, and develop new therapeutic approaches. This can ultimately contribute to improving the care and outcomes for individuals with SCID.

Newborn screening tests, such as the T-cell receptor excision circle (TREC) assay, can detect SCID within the first few days of life. This allows for the identification of affected infants before they develop severe infections or other complications related to their compromised immune system.

Once a newborn is diagnosed with SCID through screening, healthcare providers can initiate appropriate treatments, such as hematopoietic stem cell transplantation (HSCT), enzyme replacement therapy, or gene therapy. Early treatment significantly improves the prognosis and increases the likelihood of successful immune reconstitution.

With early detection, healthcare providers can implement infection prevention measures like isolation, prophylactic antibiotics, and immunoglobulin replacement therapy. These steps help reduce the risk of life-threatening infections and their complications, which are common in SCID patients.

Newborn screening has been shown to increase overall survival rates for SCID patients. Early diagnosis and intervention, particularly HSCT performed before the onset of severe infections, significantly improve long-term survival and quality of life.

Early detection and treatment can promote better overall growth and development for affected children, leading to improved physical, cognitive, and emotional outcomes.

Newborn screening allows families to receive valuable information about their child’s SCID diagnosis, enabling informed decision-making regarding family planning, prenatal testing, or pre-implantation genetic diagnosis for future pregnancies.

Identifying SCID patients early through newborn screening can contribute to research efforts aimed at understanding the natural history of the disease, evaluating the effectiveness of various treatment options, and developing new therapeutic approaches. This can ultimately lead to better care and outcomes for individuals with SCID.

After a baby is born, typically within 24 to 48 hours, a small blood sample is collected from the baby’s heel via a heel prick. This is known as a “dried blood spot” (DBS) sample, and it is used for various newborn screening tests, including SCID.

The dried blood spot sample is then analyzed in a laboratory using the TREC assay. TRECs are small DNA byproducts generated during the development of T cells in the thymus. Since SCID patients have significantly reduced or absent T cells, the number of TRECs in their blood is also markedly low.

If the TREC assay detects abnormally low levels of TRECs, the test result is considered positive or abnormal, indicating that the infant may have SCID or another T-cell lymphopenia condition. It is important to note that the TREC assay is a screening test, not a diagnostic test, and further confirmatory testing is necessary to determine the specific condition.

If the initial TREC assay result is positive, the infant will be referred for further diagnostic testing, which may include flow cytometry to assess T cell, B cell, and NK cell counts, and genetic testing to identify specific mutations responsible for SCID or other immunodeficiencies.

If the confirmatory tests confirm a diagnosis of SCID, the infant can be promptly referred to an immunologist or specialist for appropriate treatment, such as hematopoietic stem cell transplantation (HSCT), enzyme replacement therapy, or gene therapy. Early treatment initiation improves the prognosis and survival rates for SCID patients.

In addition to treatment, healthcare providers can implement infection prevention measures, including isolation, prophylactic antibiotics, and immunoglobulin replacement therapy, to protect the infant from life-threatening infections.

SCID comprises a group of diseases (caused by at least 13 genetic defects) in which the immune system is severely compromised, to the point that the body is unable to defend itself against infectious agents. They generally manifest from the first months of life,  with recurrent infections characterized by a particularly aggressive course.

Lysosomal storage diseases are caused by an alteration of any of the functions of lysosomes (organelles responsible for the degradation and the recycling of cell metabolism products). In particular, they are associated with the deficiency or the malfunctioning of the enzymes responsible for their activity.