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Oral Presentation - 23
ESOPHAGEAL ATRESIA AND GENETIC STUDY: EXPERIENCE OF A SINGLE CENTER
G Brunetti, A Di Pede, L Valfrè, F Beati, DU De Rose, M Magliozzi, A Braguglia, I Capolupo, A Dotta, A Conforti
Bambino Gesù Pediatric Hospital
Introduction: Esophageal atresia (EA), with or without a tracheoesophageal fistula (TEF), is a rare congenital malformation, with the etiology remaining unknown in approximately 90% of cases. Around 50% of neonates with EA have associated malformations, commonly within the VACTERL association. Aneuploidies (trisomies 13, 18, and 21) have been reported in 6-10% of these patients, along with chromosomal microaberrations—specifically Copy Number Variants (CNVs)—associated with EA. CNVs occur in 5-12% of the human genome.
Methods: A retrospective study was conducted on neonates diagnosed with EA at the Bambino Gesù Pediatric Hospital (Rome) from 2009 to 2024. The aim was to define the genetic background of this population and assess potential correlations with clinical phenotype and etiology.
Results: Out of 281 neonates hospitalized during the study period, 67% had EA associated with additional malformations, with 46% involving congenital heart defects. Karyotyping was performed in 172 patients (61%), revealing trisomies (Down syndrome and Trisomy 18) in 3.4% of cases. Chromosomal Microarray (CMA) was conducted in 54% of patients, identifying microarrangements (deletions or duplications) in 21.7% of the cohort. Causative CNVs associated with EA included Del1q21.1q21.2, 22q deletion in George syndrome, 22q BD deletion, and 14q23.1q23.2.
Conclusions: Genetic testing, including karyotyping, SNP arrays, and Next-Generation Sequencing (NGS), should be routinely performed in patients with esophageal atresia to detect CNVs potentially containing genes involved in its embryological development. It is essential to consider all identified rearrangements, including those classified as "benign" or "non-significant," as they may harbor causative genes for EA.
G Brunetti, A Di Pede, L Valfrè, F Beati, DU De Rose, M Magliozzi, A Braguglia, I Capolupo, A Dotta, A Conforti
Ospedale Pediatrico Bambino Gesù, Roma, Italy
Introduction: Esophageal atresia (EA), with or without a tracheoesophageal fistula (TEF), is a rare congenital malformation, with the etiology remaining unknown in approximately 90% of cases. Around 50% of neonates with EA have associated malformations, commonly within the VACTERL association. Aneuploidies (trisomies 13, 18, and 21) have been reported in 6-10% of these patients, along with chromosomal microaberrations—specifically Copy Number Variants (CNVs)—associated with EA. CNVs occur in 5-12% of the human genome.
Methods: A retrospective study was conducted on neonates diagnosed with EA at the Bambino Gesù Pediatric Hospital (Rome) from 2009 to 2024. The aim was to define the genetic background of this population and assess potential correlations with clinical phenotype and etiology.
Results: Out of 281 neonates hospitalized during the study period, 67% had EA associated with additional malformations, with 46% involving congenital heart defects. Karyotyping was performed in 172 patients (61%), revealing trisomies (Down syndrome and Trisomy 18) in 3.4% of cases. Chromosomal Microarray (CMA) was conducted in 54% of patients, identifying microarrangements (deletions or duplications) in 21.7% of the cohort. Causative CNVs associated with EA included Del1q21.1q21.2, 22q deletion in George syndrome, 22q BD deletion, and 14q23.1q23.2.
Conclusions: Genetic testing, including karyotyping, SNP arrays, and Next-Generation Sequencing (NGS), should be routinely performed in patients with esophageal atresia to detect CNVs potentially containing genes involved in its embryological development. It is essential to consider all identified rearrangements, including those classified as "benign" or "non-significant," as they may harbor causative genes for EA.