2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Esophageal Atresia with or without Tracheoesophageal Fistula: Genetic Evaluation and Clinical Outcomes

Pdf Summary

Esophageal atresia (EA) with or without tracheoesophageal fistula (TEF) is a common congenital defect of the gastrointestinal tract. It can occur as an isolated condition or with other associated anomalies. The underlying cause of EA/TEF is largely unknown, but genetic factors and environmental susceptibility may play a role. <br /><br />A retrospective cohort study was conducted at a level IV NICU to determine the prevalence of a genetic etiology in EA/TEF and its impact on clinical outcomes. The study included neonates admitted to the NICU between 2013 and 2019 with a diagnosis of TEF and/or EA. <br /><br />The study found that 78% of the neonates had additional associated anomalies, while 22% had isolated EA/TEF. Among the patients, a total of 13% had a molecularly confirmed genetic diagnosis, including microdeletion/duplication syndromes and single gene disorders. Fragile X syndrome, an unrelated genetic diagnosis, was also detected in isolated EA/TEF cases. <br /><br />The study highlights the importance of genetic evaluation and testing in neonates with EA/TEF. Whole exome/genome sequencing is now recommended as the standard test for infants with congenital anomalies. Standardized genetic testing in this patient population can help improve care, identify risks for morbidity and mortality, provide counseling to families regarding recurrence risk and prognosis, and anticipate neonatal care needs. <br /><br />The results of the study provide valuable insights into the genetic basis of EA/TEF and its impact on clinical outcomes. Understanding the genetic underpinnings of this condition can lead to better management and care for affected infants.

Asset Subtitle

Presenting Author - Divya Khattar, MD; Co-Author - Kristen Suhrie, MD;

Meta Tag

array CGH

Chromosomal Abnormalities

Clinical History

Congenital Anomaly

Exome sequencing

Genetic Testing

Genome sequencing

Genotype-Phenotype Correlations

Microarray

Phenotype

Co-Author Kristen Suhrie, MD

Presenting Author Divya Khattar, MD

Keywords

Esophageal atresia

tracheoesophageal fistula

congenital defect

gastrointestinal tract

genetic factors

associated anomalies

molecularly confirmed genetic diagnosis

genetic evaluation

standardized genetic testing

neonatal care needs