Faculty Collaboration Database

Does presence of a VACTERL anomaly predict an associated gynecologic anomaly in females with anorectal malformations?: A Pediatric Colorectal and Pelvic Learning Consortium Study. J Pediatr Surg 2023 Mar;58(3):471-477

Date

07/26/2022

Pubmed ID

35879143

DOI

10.1016/j.jpedsurg.2022.06.006

Scopus ID

2-s2.0-85134812209 (requires institutional sign-in at Scopus site)   3 Citations

Abstract

BACKGROUND: VACTERL association is defined by the presence of 3 or more anomalies in any of the following systems: vertebral, anorectal, cardiac, trachea-esophageal, renal, or limb. This study hypothesized that the presence of VACTERL association would correlate with an increased risk of gynecologic anomalies in patients with anorectal malformation (ARM).

METHODS: This study is a cross-sectional, retrospective analysis from the prospectively collected, multicenter registry of the Pediatric Colorectal and Pelvic Learning Consortium (PCPLC). The 834 female patients with ARM who were enrolled in the registry by January 1, 2020 were included in this study. The relationship of VACTERL association with presence of a gynecologic anomaly was evaluated with Fisher's exact test. The relationship of each VACTERL system with presence of a gynecologic anomaly was assessed in patients with cloaca, rectovestibular fistulas and rectoperineal fistulas. P-values reported were based on a 2-sided alternative and considered significant when less than 0.05.

RESULTS: 834 patients with ARM underwent VACTERL screening and gynecologic evaluation with the three most common subtypes being cloaca (n = 215, 25.8%), rectovestibular fistula (n = 191, 22.9%) and rectoperineal fistula (n = 194, 23.3%). A total of 223 (26.7%) patients with ARM had gynecologic anomalies. VACTERL association was seen in 380 (45.6%) of patients with ARM. Gynecologic anomalies were present in 149 (39.1%) vs. 74 (16.3%) of subjects with vs. without VACTERL association (p < 0.001). VACTERL association did not significantly increase the risk of gynecologic anomaly in patients with cloaca and VACTERL (n = 88, 61.5%) vs. cloaca without VACTERL (n = 39, 54.2% p = 0.308). VACTERL association increased the risk of gynecologic anomalies in patients with rectoperineal fistulas (n = 7, 14.9% vs n = 9, 6.1% p = 0.014) and rectovestibular fistulas (n = 19, 31.1% vs. n = 13, 10.0% p<0.001). In patients with ARM who had a VACTERL association, when one of the associated anomalies was renal, there was an even higher risk of having an associated gynecologic anomaly (n = 138, 44.2% vs. n = 85, 16.3% p<0.001).

CONCLUSIONS: VACTERL association in patients with rectoperineal and rectovestibular fistulas correlates with an increased risk of gynecologic anomalies. The presence of VACTERL associated findings, especially renal, should prompt a thorough evaluation of the gynecologic system.

LEVEL OF EVIDENCE: III. Retrospective comparative study.

Author List

Ahmad H, Wood RJ, Avansino JR, Calkins CM, Dickie BH, Durham MM, Frischer J, Fuller M, Ralls M, Reeder RW, Rentea RM, Rollins MD, Saadai P, Oelschlager AEA, Breech LL, Hewitt GD, Kluivers K, van Leeuwen KD, McCracken KA

Author

Casey Matthew Calkins MD Professor in the Surgery department at Medical College of Wisconsin

MESH terms used to index this publication - Major topics in bold

Anal Canal
Anorectal Malformations
Anus, Imperforate
Child
Colorectal Neoplasms
Cross-Sectional Studies
Female
Heart Defects, Congenital
Humans
Kidney
Limb Deformities, Congenital
Rectal Fistula
Retrospective Studies
Spine
Trachea