Poster Display Diagnostics

NEWBORN SCREENING FOR SEVERE COMBINED IMMUNODEFICIENCY (SCID) USING TRECS: A SHORTCUT IN THE DIAGNOSIS OF 22Q11.2

Lecture Time
10:24 - 10:25
Presenter
  • Andrea Martin, Spain
Room
Poster Area
Date
19.09.2019, Thursday
Session Time
10:00 - 17:00
Board Number
45
Presentation Topic
Diagnostics

Abstract

Background and Aims

Severe combined immunodeficiency (SCID) disorders may be detected, in newborn screening programs, using quantitative PCR assays to measure T-cell receptor excision circles (TRECs), a byproduct of correct T-cell development. However, in addition to SCID patients, other T-cell deficient phenotypes such as 22q11.2 deletion syndrome (DS), 22q11.2 duplication syndrome, CHARGE syndrome and trisomy 21 are being detected

Methods

We present our experience with the detection of 22q11.2 DS and duplication syndrome in a series of 103,971 newborns screened within the newborn screening program in Catalonia (Spain) since January 2017.

Results

Nineteen positive cases were detected (low TRECs) and 5 cases turned out to be copy number variations (CNVs) of the 22q11 region when investigated with array CGH technology (four deletions and one duplication). 2 cases were diagnosed prenatally while the remaining 3 newborns were diagnosed postnatally due to persistent low TRECs levels and mild lymphopenia (not fulfilling SCID criteria) despite being asymptomatic.

Conclusions

Newborn screening for SCID allows the detection of other entities, such as 22q syndrome which unexpectedly should be included in a prompt proactive follow-up and an adequate management of information and expectations for the families by a multidisciplinary team

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