he 2 2q11.2 deletion syndrome (22q11.2DS; Online Mendelian Inheritance in Man [OMIM] 188400/192430), previously called DiGeorge or velocardiofacial syndrome, is an important genetic condition associated with recurrent 22q11.2 microdeletions and highly penetrant expression. 1 Features include developmental delay, intellectual disability, congenital cardiac or palatal anomalies (or both), pediatric immunodeficiency, and treatable endocrinologic and neuropsychiatric conditions. Variable presentation, often without major anatomic anomalies, contributes to clinical under-recognition and diagnostic delay, often with many years before molecular diagnosis. 1,2 We are unaware of any contemporary population-based live-birth prevalence estimates for 22q11.2 deletions based on newborn screening data. Prevalence estimates vary widely, most commonly reported as 1.7 to 3.3 per 10 000 live births. 1 Dating back to 1996, 3 previous estimates have used multiple strategies, including ascertainment from birth defects registries, 3,4 infants with congenital cardiac disease 4,5 or clinically indicated genetic testing results. 6,7 One study used 25 704 newborn screening samples selected from individuals born between 1981 and 2005 to retrospectively identify 22q11.2 deletions, but that study excluded neonatal and early infant deaths. 8 Newborn screening programs using T-cell receptor excision circles (TRECs) for identification of severe combined immunodeficiency can detect some individuals with 22q11.2DS (those with neonatal immunodeficiency 9-12 ); however, phenotypically based methods are unlikely to be Estimate of the contemporary live-birth prevalence of recurrent 22q11.2 deletions: a cross-sectional analysis from population-based newborn screening
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