Purpose: We evaluated the various accompanied malformations in patients with anal atresia or tracheoesophageal fistula (TEF). Furthermore, we determined the prevalence of VACTERL association and compared the clinical findings with those of patients without VACTERL association.
Methods: We enrolled the patients with anal atresia or TEF with/without esophageal atresia. We collected the patient data pertaining to accompanied vertebral, cardiovascular, renal or limb anomalies, single umbilical artery, maternal diabetes mellitus or drug history, and gene research.
Results: A total 155 patients (65 boys and 90 girls) were enrolled with 147 cases of anal atresia, 3 cases of TEF, and 5 cases of anal atresia with TEF. The prevalence of accompanied anomalies was 67.1% in cardiovascular, 27.1% in renal, 9.7% in vertebral, 2.6% in limb anomalies, and 3.9% in single umbilical artery. Thirty-six (23.2%) patients were diagnosed with VACTERL association. The patients with VACTERL association had a significantly higher number of male patients (58.3 vs. 37.0%, p = .033) and single umbilical artery (11.1 vs. 1.7%, p = .026), and had a significantly lower birth weight (2.8 vs. 3.1 kg, p = .033) than the patients without VACTERL association. Genetic studies were performed in 111 patients, and 8 (7.2%) had chromosomal abnormalities-3 in VACTERL and 5 in no VACTERL group.
Conclusion: We recommend a careful evaluation for VACTERL association in patients with anal atresia or TEF. It is particularly important to screen for a single umbilical artery for features of VACTERL association as well as for other congenital anomalies.
Keywords: VACTERL association; anal atresia; congenital heart anomaly; single umblical artery; tracheo-esophageal fistula.
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