Identification of 22q11.2 Deletion Syndrome Via Newborn Screening for Severe Combined Immunodeficiency. Two Years' Experience in Catalonia (Spain)

Overview

Journal Mol Genet Genomic Med

Specialty Genetics

Date 2019 Oct 31

PMID 31663686

Citations 7

Authors

Andrea Martin-Nalda

Anna M Cueto-Gonzalez

Ana Argudo-Ramirez

Jose L Marin-Soria

Monica Martinez-Gallo

Roger Colobran

Albert Plaja

Neus Castells

Jacques Riviere

Eduardo F Tizzano

Pere Soler-Palacin

Affiliations

Soon will be listed here.

Abstract

Background: The current scenario of newborn screening is changing as DNA studies are being included in the programs of several countries. Severe combined immunodeficiency (SCID) disorders can be detected using quantitative PCR assays to measure T-cell receptor excision circles (TRECs), a byproduct of correct T-cell development. However, in addition to SCID, other T-cell-deficient phenotypes such as 22q11.2 deletion syndrome 22q11.2 duplication syndrome, CHARGE syndrome, and trisomy 21 are detected.

Methods: We present our experience with the detection of 22q11.2 deletion syndrome and 22q11.2 duplication syndrome in a series of 103,903 newborns included in the newborn screening program of Catalonia (Spain).

Results: Thirty newborns tested were positive (low TREC levels) and five were found to have copy number variations at the 22q11 region (4 deletions and 1 duplication) when investigated with array comparative genomic hybridization technology and MLPA.

Conclusion: Newborn screening for SCID enables detection of several conditions, such as 22q syndromes, which should be managed by prompt, proactive approaches with adequate counseling for families by a multidisciplinary team.

Citing Articles

In-silico identification of deleterious non-synonymous SNPs of TBX1 gene: Functional and structural impact towards 22q11.2DS.

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Parental Engagement in Identifying Information Needs After Newborn Screening for Families of Infants with Suspected Athymia.

Howley E, Soomann M, Kreins A J Clin Immunol. 2024; 44(3):79.

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Metabolic signature of the pathogenic 22q11.2 deletion identifies carriers and provides insight into systemic dysregulation.

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Impact of newborn screening for SCID on the management of congenital athymia.

Howley E, Golwala Z, Buckland M, Barzaghi F, Ghosh S, Hackett S J Allergy Clin Immunol. 2023; 153(1):330-334.

PMID: 37678573 PMC: 10940165. DOI: 10.1016/j.jaci.2023.08.031.

Estimate of the contemporary live-birth prevalence of recurrent 22q11.2 deletions: a cross-sectional analysis from population-based newborn screening.

Blagojevic C, Heung T, Theriault M, Tomita-Mitchell A, Chakraborty P, Kernohan K CMAJ Open. 2021; 9(3):E802-E809.

PMID: 34404688 PMC: 8373039. DOI: 10.9778/cmajo.20200294.

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