Abstract
In the fetus, the cardiac neural crest gives rise to both the thymus and the conotruncus of the heart. In newborn screening for severe T-cell lymphopenia neonates with congenital heart defects may be detected. In this study, we investigated the occurrence of T-cell lymphopenia in neonates with or without 22q11.2 deletion syndrome (del) suffering from heart defects. This retrospective cohort study included 125 patients with heart defects. T-cell receptor excision circles (TRECs), a measure for T-cell lymphopenia, were quantified by RT-PCR using stored newborn screening blood spots. Three patient groups were compared: non-conotruncal defects (n = 57), conotruncal defects (n = 42), and 22q11.2 del with conotruncal defects (n = 26). Significantly lower TREC values were detected in patients with 22q11.2 del and conotruncal heart defects compared to those with non-syndromic conotruncal (p < 0.001) and non-conotruncal (p < 0.001) defects. In contrast, no significant difference was found between patients with non-syndromic conotruncal and non-conotruncal heart defects (p = 0.152). Low TREC levels were obtained in neonates treated with heart surgery/intervention within 2 weeks after birth and in those with a fatal outcome (p = 0.02) independent of patient group. A correlation was found between low TREC numbers and oxygen saturation, SpO2 below 95% (p = 0.017). The SpO2 was significantly lower in the non-syndromic conotruncal group compared to non-conotruncal (p < 0.001) and 22q11.2 del group (p = 0.015). No correlation was found between low neonatal TRECs and infections needing hospitalization later in life (p = 0.135). Patients with 22q11.2 del and conotruncal defects have significantly lower TREC levels compared to patients with heart defects without this syndrome.
Highlights
T-cell lymphopenia in neonates with congenital heart defects occurring as part of a syndrome or as a non-syndromic condition, has been described in a number of studies [1, 2]
The patients were divided in three groups, those with nonconotruncal (n = 57), conotruncal (n = 42), and 22q11.2 del with conotruncal heart defects (n = 26)
In the non-syndromic patients, a slight trend of lower T-cell receptor excision circles (TRECs) values was observed in the conotruncal group compared to non-conotruncal not significant (p = 0.152)
Summary
T-cell lymphopenia in neonates with congenital heart defects occurring as part of a syndrome or as a non-syndromic condition, has been described in a number of studies [1, 2]. Pediatric Cardiology (2020) 41:809–815 immunodeficiency (SCID) is performed routinely in the USA and other countries including Norway. In this screening, both SCID and non-SCID conditions with T-cell lymphopenia are detected when determining T-cell receptor excision circles (TRECs). After screening 3 million newborns in ten American States, Kwan et al [1] found an incidence of non-SCID T-cell lymphopenia of 1 in 14,000. Congenital syndromes associated with T-cell lymphopenia, as the 22q11.2 deletion syndrome (del) and trisomy 21 (Down syndrome) were reported in 33% of these infants
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