Updates in Newborn Screening

Rajabi, Farrah

doi:10.3928/19382359-20180426-01

Cited by 29 publications

(24 citation statements)

References 21 publications

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“…Many authors agree that SCID, and other severe forms of PID, are an important health problem with a known natural history and available treatment, which meets the Wilson and Junger criteria (18,19). Since 2008, TREC analysis has been used as a screening method for severe forms of primary T-cell lymphopenia (2,5,20,33). Further research enabled the extension of the qPCR method to simultaneous measurement of TREC and KREC values.…”

Section: Discussionmentioning

confidence: 99%

“…Since 2008, TREC analysis has been used as a screening method for severe forms of primary T-cell lymphopenia ( 2 , 5 , 20 , 33 ). Further research enabled the extension of the qPCR method to simultaneous measurement of TREC and KREC values.…”

Section: Discussionmentioning

confidence: 99%

“…Different analytical techniques were used. These included bacterial inhibition tests, radioimmunoassays, immunoassays with colorimetric, fluorometric, or luminometric measurements and, starting from the late 1990's, tandem mass spectrometry followed soon after by DNA-based technologies (2,3). In 2005, McGhee et al and Chan and Puck described the first-time application of the DNA-based assay (T-cell receptor excision circles-TREC) colorimetric NBS for severe combined immunodeficiency (SCID) and other forms of T-cell lymphopenia (4,5).…”

Section: Introductionmentioning

confidence: 99%

“…Several studies performed since that time revealed a SCID incidence of 1: 58,000 live births (21). Now it is screened throughout the United States (as one out of 35 primary screened disorders included in the recommended uniform screening panel), as well as in some countries in Europe and other continents, either reimbursed by governments or by scientific/pilot studies (2,22).…”

Section: Introductionmentioning

confidence: 99%

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Newborn Screening for SCID and Other Severe Primary Immunodeficiency in the Polish-German Transborder Area: Experience From the First 14 Months of Collaboration

Giżewska

Durda²,

Winter

et al. 2020

Front. Immunol.

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In 2017, in the Polish-German transborder area of West Pomerania, Mecklenburg-Western Pomerania, and Brandenburg, in collaboration with two centers in Warsaw, a partnership in the field of newborn screening (NBS) for severe primary immunodeficiency diseases (PID), mainly severe combined immunodeficiency (SCID), was initiated. SCID, but also some other severe PID, is a group of disorders characterized by the absence of T and/or B and NK cells. Affected infants are susceptible to life-threatening infections, but early detection gives a chance for effective treatment. The prevalence of SCID in the Polish and German populations is unknown but can be comparable to other countries (1:50,000-100,000). SCID NBS tests are based on real-time polymerase chain reaction (qPCR) and the measurement of a number of T cell receptor excision circles (TREC), kappa-deleting recombination excision circles (KREC), and beta-actin (ACTB) as a quality marker of DNA. This method can also be effective in NBS for other severe PID with T-and/or B-cell lymphopenia, including combined immunodeficiency (CID) or agammaglobulinemia. During the 14 months of collaboration, 44,287 newborns were screened according to the ImmunoIVD protocol. Within 65 positive samples, seven were classified to immediate recall and 58 requested a second sample. Examination of the 58 second samples resulted in recalling one Giżewska et al. Polish-German Cooperation of NBS for Severe PID newborn. Confirmatory tests included immunophenotyping of lymphocyte subsets with extension to TCR repertoire, lymphoproliferation tests, radiosensitivity tests, maternal engraftment assays, and molecular tests. Final diagnosis included: one case of T-B low NK+ SCID, one case of atypical T low B low NK+ CID, one case of autosomal recessive agammaglobulinemia, and one case of Nijmegen breakage syndrome. Among four other positive results, three infants presented with T-and/or B-cell lymphopenia due to either the mother's immunosuppression, prematurity, or unknown reasons, which resolved or almost normalized in the first months of life. One newborn was classified as truly false positive. The overall positive predictive value (PPV) for the diagnosis of severe PID was 50.0%. This is the first population screening study that allowed identification of newborns with T and/or B immunodeficiency in Central and Eastern Europe.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Newborn Screening for SCID and Other Severe Primary Immunodeficiency in the Polish-German Transborder Area: Experience From the First 14 Months of Collaboration

Giżewska

Durda²,

Winter

et al. 2020

Front. Immunol.

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“…Newborn screening spans measurements of weight and height, clinical examination and sophisticated testing for specific diseases, such as phenylketonuria, hypothyroidism, medium-chain acyl-coenzyme dehydrogenase deficiency, cystic fibrosis, and hearing and visual defects. Since the introduction of newborn screening in the 1960s, it has been expanded by the US Department of Health and Human Services and the American College of Medical Genetics and Genomics to include screening for 34 core disorders and 26 secondary disorders 62. The development of new therapies and intrauterine diagnosis initiated the expansion of screened disorders.…”

Section: What Is Newborn Screening?mentioning

confidence: 99%

<p>Screening for galactosemia: is there a place for it?</p>

Kotb¹,

Mansour²,

Shamma³

2019

IJGM

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Galactose is a hexose essential for production of energy, which has a prebiotic role and is essential for galactosylation of endogenous and exogenous proteins, ceramides, myelin sheath metabolism and others. The inability to metabolize galactose results in galactosemia. Galactosemia is an autosomal recessive disorder that affects newborns who are born asymptomatic, apparently well and healthy, then develop serious morbidity and mortality upon consuming milk that contains galactose. Those with galactosemia have a deficiency of an enzyme: classic galactosemia (type 1) results from severe deficiency of galactose-1-uridylyltransferase, while galactosemia type II results from galactokinase deficiency and type III results from galactose epimerase deficiency. Many countries include neonatal screening for galactosemia in their national newborn screening program; however, others do not, as the condition is rather rare, with an incidence of 1:30,000–1:100,000, and screening may be seen as not cost-effective and logistically demanding. Early detection and intervention by restricting galactose is not curative but is very rewarding, as it prevents deaths, mental retardation, liver cell failure, renal tubular acidosis and neurological sequelae, and may lead to resolution of cataract formation. Hence, national newborn screening for galactosemia prevents serious potential life-long suffering, morbidity and mortality. Recent advances in communication and biotechnology promise facilitation of logistics of neonatal screening, including improved cost-effectiveness.

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Targeted exome sequencing strategy (NeoEXOME) for Chinese newborns using a pilot study with 3423 neonates

Cao,

He,

Wang

et al. 2024

Molec Gen & Gen Med

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BackgroundNewborn screening (NBS) aims to detect congenital anomalies, and next‐generation sequencing (NGS) has shown promise in this aspect. However, the NBS strategy for monogenic inherited diseases in China remains insufficient.MethodsWe developed a NeoEXOME panel comprising 601 genes that are relevant to the Chinese population found through extensive research on available databases. An interpretation system to grade the results into positive (high‐risk, moderate‐risk, and low‐risk genotypes), negative, and carrier according to the American College of Medical Genetics (ACMG) guidelines was also developed. We validated the panel to evaluate its efficacy by using data from the “1000 Genomes Project” and conducted a pilot multicenter study involving 3423 neonates.ResultsThe NGS positive rate in the 1000 Genomes Project was 7.6% (23/301), whereas the rate was 12.0% in the multicenter study, including 3249 recruited neonates. Notably, in 200 neonates, positive per conventional NBS, 58.5% (69/118) showed results consistent with NGS. In the remaining 3049 neonates showing negative results in conventional NBS, 271 (8.9%) were positive per NGS, and nine of them were clinically diagnosed with diseases in the follow‐up.ConclusionWe successfully designed a NeoEXOME panel for targeted sequencing of monogenic inherited diseases in NBS. The panel demonstrated high performance in the Chinese population, particularly for the early detection of diseases with no biochemical markers.

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Updates in Newborn Screening

Cited by 29 publications

References 21 publications

Newborn Screening for SCID and Other Severe Primary Immunodeficiency in the Polish-German Transborder Area: Experience From the First 14 Months of Collaboration

Newborn Screening for SCID and Other Severe Primary Immunodeficiency in the Polish-German Transborder Area: Experience From the First 14 Months of Collaboration

<p>Screening for galactosemia: is there a place for it?</p>

Targeted exome sequencing strategy (NeoEXOME) for Chinese newborns using a pilot study with 3423 neonates

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