RESUMO
OBJECTIVE: To evaluate genetic testing utilization and diagnostic yield in infants with esophageal atresia (EA)/tracheoesophageal fistula (TEF) over the past 12 years to inform future practices and individualize prognostication and management. STUDY DESIGN: A retrospective cohort study was performed for all infants with EA or EA/TEF hospitalized between January 2011 and January 2023 at a quaternary children's hospital. For each infant, demographic information, prenatal and postnatal history, and genetic testing were reviewed. RESULTS: There were 212 infants who were classified as follows: 1) complex/syndromic with EA/TEF plus an additional major anatomic anomaly (n = 114, of which 74 met VACTERL criteria); 2) isolated/nonsyndromic EA/TEF (n = 88) and 3) isolated/nonsyndromic EA (n = 10). A range of genetic tests were sent with varying diagnostic rates including karyotype analysis in 12 (all with complex/syndromic phenotypes and all positive), chromosomal microarray analysis in 189 (114 of whom were complex/syndromic with an overall diagnostic rate of 3/189), single gene testing for CHD7 in 18 (4 positive), and exome analysis in 37 complex/syndromic patients (8 positive). CONCLUSIONS: EA/TEF with and without additional anomalies is genetically heterogeneous with a broad range of associated phenotypes. While the genetic etiology of EA/TEF with or without VACTERL remains largely unknown, genome wide testing (exome or genome) including copy number analysis is recommended over chromosomal microarray testing. We anticipate that expanded genetic/genomic testing modalities such as RNA sequencing and tissue specific molecular testing are needed in this cohort to improve our understanding of the genomic contributors to EA/TEF.
Assuntos
Atresia Esofágica , Testes Genéticos , Fístula Traqueoesofágica , Humanos , Fístula Traqueoesofágica/genética , Fístula Traqueoesofágica/diagnóstico , Atresia Esofágica/genética , Atresia Esofágica/diagnóstico , Estudos Retrospectivos , Masculino , Feminino , Recém-Nascido , Lactente , GenômicaRESUMO
Esophageal dilations in children are performed by several pediatric and adult professionals. We aim to summarize improvements in safety and new technology used for the treatment of complex and refractory strictures, including triamcinolone injection, endoscopic electro-incisional therapy, topical mitomycin-C application, stent placement, functional lumen imaging probe assisted dilation, and endoscopic vacuum-assisted closure in the pediatric population.