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Chapter 74 : Severe Combined Immune Deficiency: Newborn Screening

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Severe Combined Immune Deficiency: Newborn Screening, Page 1 of 2

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Abstract:

The history of newborn screening (NBS) in the United States began in 1963, when Guthrie demonstrated that phenylketonuria (PKU) can be detected using dried blood spots (DBSs) on filter paper from newborns (1). Neonatal testing for PKU proved to be inexpensive, sensitive, specific, and amenable to high-throughput screening. The ability to screen neonates for other serious diseases increased dramatically, and in 1968, Wilson and Jungner published a landmark report that included guidelines for population-based health screening (Table 1) (2). This report tried to balance the desire for early detection and treatment of disease with the potential harms to patients, family, and society. The report defined principles for NBS programs and has undergone revisions to address concerns for both newborn screening and population-based screening programs in general (Table 1) (3–5).

Citation: Verbsky J, Routes J. 2016. Severe Combined Immune Deficiency: Newborn Screening, p 715-720. In Detrick B, Schmitz J, Hamilton R (ed), Manual of Molecular and Clinical Laboratory Immunology, Eighth Edition. ASM Press, Washington, DC. doi: 10.1128/9781555818722.ch74
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Figures

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FIGURE 1

Final diagnoses of 110 infants with abnormal TREC screen for SCID. Secondary causes include metabolic disorders, chromosomal abnormalities, infections (e.g., necrotizing enterocolitis, sepsis). 22q11, 22q11 deletion syndrome; AT, ataxia telangiectasia.

Citation: Verbsky J, Routes J. 2016. Severe Combined Immune Deficiency: Newborn Screening, p 715-720. In Detrick B, Schmitz J, Hamilton R (ed), Manual of Molecular and Clinical Laboratory Immunology, Eighth Edition. ASM Press, Washington, DC. doi: 10.1128/9781555818722.ch74
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References

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Tables

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TABLE 1

Criteria for newborn screening

Citation: Verbsky J, Routes J. 2016. Severe Combined Immune Deficiency: Newborn Screening, p 715-720. In Detrick B, Schmitz J, Hamilton R (ed), Manual of Molecular and Clinical Laboratory Immunology, Eighth Edition. ASM Press, Washington, DC. doi: 10.1128/9781555818722.ch74
Generic image for table
TABLE 2

Initial screening results and results of confirmatory flow cytometry

Citation: Verbsky J, Routes J. 2016. Severe Combined Immune Deficiency: Newborn Screening, p 715-720. In Detrick B, Schmitz J, Hamilton R (ed), Manual of Molecular and Clinical Laboratory Immunology, Eighth Edition. ASM Press, Washington, DC. doi: 10.1128/9781555818722.ch74
Generic image for table
TABLE 3

Final diagnoses of patients with SCID or severe TCL from Wisconsin and California

Citation: Verbsky J, Routes J. 2016. Severe Combined Immune Deficiency: Newborn Screening, p 715-720. In Detrick B, Schmitz J, Hamilton R (ed), Manual of Molecular and Clinical Laboratory Immunology, Eighth Edition. ASM Press, Washington, DC. doi: 10.1128/9781555818722.ch74

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