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lüll Systematic evidence review of newborn screening and treatment of severe combined immunodeficiency Lipstein EA; Vorono S; Browning MF; Green NS; Kemper AR; Knapp AA; Prosser LA; Perrin JMPediatrics 2010[May]; 125 (5): e1226-35CONTEXT: Severe combined immunodeficiency (SCID) is a group of disorders that leads to early childhood death as a result of severe infections. Recent research has addressed potential newborn screening for SCID. OBJECTIVE: To conduct a systematic review of the evidence for newborn screening for SCID, including test characteristics, treatment efficacy, and cost-effectiveness. METHODS: We searched Medline and the OVID In-Process & Other Non-Indexed Citations databases. We excluded articles if they were reviews, editorials or other opinion pieces, or case series of fewer than 4 patients or if they contained only adult subjects or nonhuman data. The remaining articles were systematically evaluated, and data were abstracted by 2 independent reviewers using standardized tools. For topics that lacked published evidence, we interviewed experts in the field. RESULTS: The initial search resulted in 719 articles. Twenty-six met inclusion criteria. The results of several small studies suggested that screening for SCID is possible. Interviews revealed that 2 states have begun pilot screening programs. Evidence from large case series indicates that children receiving early stem-cell transplant for SCID have improved outcomes compared with children who were treated later. There is some inconclusive evidence regarding the need for donor-recipient matching and use of pretransplant chemotherapy. Few data on the cost-effectiveness of a SCID-screening program. CONCLUSIONS: Evidence indicates the benefits of early treatment of SCID and the possibility of population-based newborn screening. Better information on optimal treatment and the costs of treatment and screening would benefit policy makers deciding among competing health care priorities.|*Evidence-Based Medicine/economics[MESH]|*Neonatal Screening/economics[MESH]|Bone Marrow Transplantation/economics[MESH]|Child[MESH]|Child, Preschool[MESH]|Cost-Benefit Analysis[MESH]|Female[MESH]|Health Policy/economics[MESH]|Health Priorities/economics[MESH]|Histocompatibility Testing[MESH]|Humans[MESH]|Infant[MESH]|Infant, Newborn[MESH]|Male[MESH]|Severe Combined Immunodeficiency/*diagnosis/economics/mortality/therapy[MESH]|Survival Rate[MESH]|Treatment Outcome[MESH]|United States[MESH] |