scholarly journals Newborn Screening for Severe Combined Immunodeficiency: Do Preterm Infants Require Special Consideration?

2021 ◽  
Vol 7 (3) ◽  
pp. 40
Author(s):  
Anne E. Atkins ◽  
Michael F. Cogley ◽  
Mei W. Baker
Keyword(s):  
Newborn Screening ◽  
Premature Infant ◽  
Gestational Age ◽  
Linear Regression Analysis ◽  
Severe Combined Immunodeficiency ◽  
Cell Receptor ◽  
Full Term ◽  
Combined Immunodeficiency ◽  
Term Infants ◽  
Preterm Newborns

The Wisconsin Newborn Screening (NBS) Program began screening for severe combined immunodeficiency (SCID) in 2008, using real-time PCR to quantitate T-cell receptor excision circles (TRECs) in DNA isolated from dried blood NBS specimens. Prompted by the observation that there were disproportionately more screening-positive cases in premature infants, we performed a study to assess whether there is a difference in TRECs between full-term and preterm newborns. Based on de-identified SCID data from 1 January to 30 June 2008, we evaluated the TRECs from 2510 preterm newborns (gestational age, 23–36 weeks) whose specimens were collected ≤72 h after birth. The TRECs from 5020 full-term newborns were included as controls. The relationship between TRECs and gestational age in weeks was estimated using linear regression analysis. The estimated increase in TRECs for every additional week of gestation is 9.60%. The 95% confidence interval is 8.95% to 10.25% (p ≤ 0.0001). Our data suggest that TRECs increase at a steady rate as gestational age increases. These results provide rationale for Wisconsin’s existing premature infant screening procedure of recommending repeat NBS following an SCID screening positive in a premature infant instead of the flow cytometry confirmatory testing for SCID screening positives in full-term infants.

THE POSTNATAL DEVELOPMENT OF THE COAGULATION SYSTEM IN THE PREMATURE INFANT

1987 ◽  
Author(s):  
M Andrew ◽  
B A Paes ◽  
R A Milner ◽  
P J Powers ◽  
M Johnston ◽  
...  
Keyword(s):  
Premature Infant ◽  
Postnatal Development ◽  
Premature Infants ◽  
Reference Values ◽  
Gestational Age ◽  
Term Infant ◽  
Full Term ◽  
Screening Tests ◽  
Coagulation System ◽  
Term Infants

A cohort study was performed to determine the postnatal development of the coagulation system in the “healthy” premature infant. Mothers were approached for consent and a total of 132 premature infants were entered into the study. The group consisted of 64 infants with gestational ages of 34-36 weeks (prem 1) and 68 infants whose gestational age was 33 weeks or less (prem 2). Demographic information and a 2 ml blood sample were obtained on days 1, 5, 30, 90, and 180. Plasma was fractionated and stored at −70°C for batch assaying of the following tests: screening tests, PT, APTT; factor assays (biologic (B)); fibrinogen, II, V, VII, VIII:C, IX, X, XI, XII, prekallikrein, high molecular weight kininogen, XIII (immunologic (I)); inhibitors (I), antithrombin III, aα2-antiplasmin, α2-macroglobulin, α-anti-trypsin, Cl esterase inhibitor, protein C, protein S, and the fibrinolytic system (B); plasminogen. We have previously reported an identical study for 118 full term infants. The large number of premature and full term infants studied at varying time points allowed us to determine the following: 1) coagulation tests vary with the gestational age and postnatal age of the infant; 2) each factor has a unique postnatal pattern of maturation; 3) near adult values are achieved by 6 months of age; 4) premature infants have a more rapid postnatal development of the coagulation system compared to the full term infant; and 5) the range of reference values for two age groups of premature infants has been established for each of the assays. These reference values will provide a basis for future investigation of specific hemorrhagic and thrombotic problems in the newborn infant.

Nursing Care of the Premature Infant with Severe Combined Immunodeficiency Disease

2006 ◽  
Vol 25 (3) ◽  
pp. 167-174
Author(s):  
Brigit Carter
Keyword(s):  
Premature Infant ◽  
Nursing Care ◽  
Parental Support ◽  
Severe Combined Immunodeficiency ◽  
Diagnosis And Treatment ◽  
Combined Immunodeficiency ◽  
Term Infants ◽  
Multidisciplinary Communication ◽  
Immunodeficiency Disease ◽  
Severe Combined Immunodeficiency Disease

Diagnosis and treatment of severe combined immunodeficiency disease (SCID) is documented in fetuses, term infants, and older children; however, there is very little information on its diagnosis and treatment in premature infants. When Duke University Medical Center’s first preterm infant with a known SCID history was delivered, in June 1999, there was no defined protocol for the infant’s nursing care. Although many of the guidelines for nursing care of the premature infant population (≤36 weeks) apply, there are important considerations for preterm infants with an SCID diagnosis. This article provides background on SCID and identifies those special considerations—namely, multidisciplinary communication, infection prevention, thorough physical assessments, and parental support.

scholarly journals Population-Based Screening for Severe Combined Immunodeficiency in Manitoba, Canada

2018 ◽  
Author(s):  
J. Robert Thompson ◽  
Cheryl R. Greenberg ◽  
Andrew Dick ◽  
Olga Jilkine ◽  
Luvinia Kwan ◽  
...  
Keyword(s):  
High Resolution ◽  
Newborn Screening ◽  
First Nations ◽  
Founder Mutation ◽  
Severe Combined Immunodeficiency ◽  
Cell Receptor ◽  
Population Based ◽  
Combined Immunodeficiency ◽  
Normal Numbers ◽  
Trec Assay

The incidence of Severe Combined Immunodeficiency (SCID) in Manitoba, (1/15,000), is at least three to four times higher than the national average and that reported from other jurisdictions. It is overrepresented in two population groups: Mennonites (ZAP70 founder mutation) and First Nations of Northern Cree ancestry (IKBKB founder mutation). We have previously demonstrated that in these two populations the most widely utilized T-cell receptor excision circle (TREC) assay is an ineffective newborn screening test to detect SCID as these patients have normal numbers of mature T-cells. We have developed a semi-automated, closed tube, high resolution DNA melting procedure to simultaneously genotype both of these mutations from the same newborn blood spot DNA extract used for the TREC assay. Parallel analysis of all newborn screening specimens utilizing both TREC analysis and the high resolution DNA procedure should provide as complete ascertainment as possible of SCID in the Manitoba population.

Newborn Screening for Severe Combined Immunodeficiency: Analytic and Clinical Performance of the T Cell Receptor Excision Circle Assay in France (DEPISTREC Study)

2018 ◽  
Vol 38 (7) ◽  
pp. 778-786 ◽  
Author(s):  
Marie A. P. Audrain ◽  
Alexandra J. C. Léger ◽  
Caroline A. F. Hémont ◽  
Sophie M. Mirallié ◽  
David Cheillan ◽  
...  
Keyword(s):  
T Cell ◽  
Newborn Screening ◽  
T Cell Receptor ◽  
Clinical Performance ◽  
Severe Combined Immunodeficiency ◽  
Cell Receptor ◽  
Combined Immunodeficiency

scholarly journals High-Throughput Multiplexed T-Cell–Receptor Excision Circle Quantitative PCR Assay with Internal Controls for Detection of Severe Combined Immunodeficiency in Population-Based Newborn Screening

2010 ◽  
Vol 56 (9) ◽  
pp. 1466-1474 ◽  
Author(s):  
Jacalyn L Gerstel-Thompson ◽  
Jonathan F Wilkey ◽  
Jennifer C Baptiste ◽  
Jennifer S Navas ◽  
Sung-Yun Pai ◽  
...  
Keyword(s):  
Quality Assurance ◽  
Newborn Screening ◽  
T Cell Receptor ◽  
Severe Combined Immunodeficiency ◽  
Cell Receptor ◽  
Population Based ◽  
Combined Immunodeficiency ◽  
Clinical Validity ◽  
Trec Assay ◽  
Blood Spot

BACKGROUND Real-time quantitative PCR (qPCR) targeting a specific marker of functional T cells, the T-cell–receptor excision circle (TREC), detects the absence of functional T cells and has a demonstrated clinical validity for detecting severe combined immunodeficiency (SCID) in infants. There is need for a qPCR TREC assay with an internal control to monitor DNA quality and the relative cellular content of the particular dried blood spot punch sampled in each reaction. The utility of the qPCR TREC assay would also be far improved if more tests could be performed on the same newborn screening sample. METHODS We approached the multiplexing of qPCR for TREC by attenuating the reaction for the reference gene, with focus on maintaining tight quality assurance for reproducible slopes and for prevention of sample-to-sample cross contamination. Statewide newborn screening for SCID using the multiplexed assay was implemented, and quality-assurance data were recorded. RESULTS The multiplex qPCR TREC assay showed nearly 100% amplification efficiency for each of the TREC and reference sequences, clinical validity for multiple forms of SCID, and an analytic limit of detection consistent with prevention of contamination. The eluate and residual ghost from a 3.2-mm dried blood spot could be used as source material for multiplexed immunoassays and multiplexed DNA tests (Multiplex Plus), with no disruption to the multiplex TREC qPCR. CONCLUSIONS Population-based SCID newborn screening programs should consider multiplexing for quality assurance purposes. Potential benefits of using Multiplex Plus include the ability to perform multianalyte profiling.

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