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- Title
Newborn Screening for SCID in New York State: Experience from the First Two Years.
- Authors
Vogel, Beth; Bonagura, Vincent; Weinberg, Geoffrey; Ballow, Mark; Isabelle, Jason; DiAntonio, Lisa; Parker, April; Young, Allison; Cunningham-Rundles, Charlotte; Fong, Chin-To; Celestin, Jocelyn; Lehman, Heather; Rubinstein, Arye; Siegel, Subhadra; Weiner, Leonard; Saavedra-Matiz, Carlos; Kay, Denise; Caggana, Michele
- Abstract
Purpose: To describe the process and assess outcomes for the first 2 years of newborn screening for severe combined immunodeficiency (SCID NBS) in New York State (NYS). Methods: The NYS algorithm utilizes a first-tier molecular screen for TRECs (T-cell receptor excision circles), the absence of which is indicative of increased risk of immunodeficiency. Results: During the first 2 years, 485,912 infants were screened for SCID. Repeat specimens were requested from 561 premature and 746 non-premature infants with low or borderline TRECs. A total of 531 infants were referred for diagnostic evaluation leading to identification of 10 infants with SCID and 87 with a clinically significant non-SCID abnormality based on flow cytometry or CBC results (positive predictive value 20.3 %). Nine infants were diagnosed with typical SCID and one with leaky SCID. SCID diagnoses included two patients with adenosine deaminase deficiency, three patients with typical and one with leaky IL2RG-related SCID, one patient with IL7Rα-related SCID, and three cases of typical SCID, etiology unknown. TRECs were undetectable in eight of the nine babies with typical SCID. Infants with other non-SCID conditions included 27 patients with a syndrome that included T-cell impairment, 18 of which had DiGeorge syndrome. Seventeen infants had T-cell impairment secondary to another clinically significant condition, and 13 were classified as 'other'. Among 30 infants classified as idiopathic T-cell lymphopenia, 11 have since resolved, and the remainder continues to be followed. One infant with undetectable TRECs had normal follow-up studies. Molecular studies revealed the presence of two changes in the infant's DNA. Conclusions: Overall, ten infants with SCID were identified during the first 2 years of screening in NYS, yielding an incidence of approximately 1 in 48,500 live births, which is consistent with the incidence observed by other states screening for SCID. The incidence of any clinically significant laboratory abnormality was approximately 1 in 5,000; both estimates are higher than estimates prior to the onset of newborn screening for SCID. Improvements to the NYS algorithm included the addition of a borderline category that reduced the proportion of infants referred for flow cytometric analysis, without decreasing sensitivity. We identified a large number of infants with abnormal TRECs and subsequent idiopathic T-cell lymphopenia. Long-term follow-up studies are needed to determine the prognosis and optimal treatment for this group of patients, some of whom may present with previously unrecognized, transient lymphopenia of infancy.
- Subjects
NEW York (N.Y.); NEONATAL diseases; SEVERE combined immunodeficiency; HEALTH outcome assessment; IMMUNODEFICIENCY; FLOW cytometry; T-cell lymphoma; DIAGNOSIS; DISEASE risk factors
- Publication
Journal of Clinical Immunology, 2014, Vol 34, Issue 3, p289
- ISSN
0271-9142
- Publication type
Article
- DOI
10.1007/s10875-014-0006-7