AI Article Synopsis
- The study investigates the recurrence risk of esophageal atresia with/without trachea-esophageal fistula (EA/TEF) and associated VATER/VACTERL malformations in first-degree relatives of affected patients.
- A group of 108 patients was analyzed, examining their 410 first-degree relatives for any signs of EA/TEF or VATER/VACTERL malformations.
- Results showed that no first-degree relatives had EA/TEF, and although some showed VATER/VACTERL malformations, the risk was similar to that of a control group, indicating a low recurrence risk for these conditions in families.
Article Abstract
Background: Esophageal atresia with/without trachea-esophageal fistula (EA/TEF) denotes a spectrum of severe congenital malformations. The aim of this systematic study was to determine both the recurrence risk for EA/TEF, and the risk for malformations of the VATER/VACTERL association spectrum, in first-degree relatives of patients with isolated EA/TEF.
Methods: A total of 108 unrelated patients with isolated EA/TEF were included. These individuals had 410 first-degree relatives including 194 siblings. The presence of EA/TEF and malformations of the VATER/VACTERL association spectrum in relatives was systematically assessed. Data from the EUROCAT network were used for comparison.
Results: None of the first-degree relatives displayed any form of EA/TEF. In two families, a first-degree relative presented with malformations from the VATER/VACTERL association spectrum. However, no increase in the risk for malformations of the VATER/VACTERL association spectrum was found compared with the control cohort (p = 0.87). In three families, one more distantly related relative presented with EA/TEF.
Conclusion: In contrast to previous studies, our results suggest a very low recurrence risk for isolated EA/TEF and/or for malformations of the VATER/VACTERL association spectrum among first-degree relatives.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1002/bdra.23205 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Microdeletion on Xq27.1 in a Chinese VACTERL-Like Family with Kidney and Anal Anomalies.
Biomed Environ Sci
May 2024
Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing Hospital, Beijing 100730, China.
Objective: VATER/VACTERL-like association is associated with adverse pregnancy outcomes. Genetic evidence of this disorder is sporadic. In this study, we aimed to provide genetic insights to improve the diagnosis of VACTERL.
View Article and Find Full Text PDFPrimary cilia are critical for tracheoesophageal septation.
Dev Dyn
March 2024
Graduate School of Biomedical Sciences and Engineering, University of Maine, Orono, Maine, USA.
Introduction: Primary cilia play pivotal roles in the patterning and morphogenesis of a wide variety of organs during mammalian development. Here we examined murine foregut septation in the cobblestone mutant, a hypomorphic allele of the gene encoding the intraflagellar transport protein IFT88, a protein essential for normal cilia function.
Results: We reveal a crucial role for primary cilia in foregut division, since their dramatic decrease in cilia in both the foregut endoderm and mesenchyme of mutant embryos resulted in a proximal tracheoesophageal septation defects and in the formation of distal tracheo(broncho)esophageal fistulae similar to the most common congenital tracheoesophageal malformations in humans.
Ectopic scrotum and penoscrotal transposition: Case report and literature review.
Front Pediatr
February 2023
Department of Pediatric Surgery, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, China.
Background: Ectopic scrotum (ES) is an extremely rare congenital scrotal malformation. Ectopic scrotum with VATER/VACTERL [vertebral defects (V), anal atresia or anorectal malformations (A), cardiac defects (C), tracheoesophageal fistula with or without esophageal atresia (TE), cardiac defects, renal malformations (R), and limb defects (L)] association is even rarer. There are no uniform guidelines for diagnosis and treatment.
View Article and Find Full Text PDFAn Incidental Finding of Butterfly Vertebrae in a Case of Vertebral Defects, Anal Atresia, Cardiac Defects, Tracheo-Esophageal Fistula, Renal Anomalies, and Limb Abnormalities (VACTERL).
Cureus
January 2023
Research Scientist, Jawaharlal Nehru Medical College, Datta Meghe Institute of Medical Sciences, Wardha, IND.
Butterfly spine is a rare benign congenital abnormality. The onset of a minimum of three of the congenital malformations of vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities often characterises the VATER/VACTERL relationship. Recognising this anomaly is crucial for diagnosis, although this rare aberration is thought to be asymptomatic most of the time.
View Article and Find Full Text PDFClinical and genetic approach in the characterization of newborns with anorectal malformation.
J Matern Fetal Neonatal Med
December 2022
Department of Health Promotion, Mother-Child Care, Internal Medicine and Medical Specialties "G. D'Alessandro", Neonatal Intensive Care Unit, University Hospital "P. Giaccone", Palermo, Italy.
Objective: This study aimed to investigate clinical, surgical, and genetic data of neonates with anorectal malformation (ARM).
Study Design: A retrospective observational study was conducted on neonates with ARM as an isolated type (group 1), with ≤2 (group 2), and with ≥3 associated malformations (group 3), born between 2009 and 2020. Distribution of ARM, associated abnormalities and genetic testing were analyzed, and risk factors for adverse outcomes were identified.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!