Highlights
- •What does this study add to the literature (required).
- •What is currently known about this topic? A large number of patients with cloacal malformation have associated gynecologic anomalies.
- •What new information is contained in this article? Girls with less complex ARM subtypes (such as rectoperineal and rectovestibular fistulas) have a high incidence of gynecologic anomalies. This incidence is significantly increased in the presence of a VACTERL association.
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
Keywords
Abbreviations:
ARM (anorectal malformation), PCPLC (pediatric colorectal and pelvic learning consortium), VACTERL (vertebral, anorectal, cardiac, trachea-esophageal, renal, or limb)To read this article in full you will need to make a payment
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Article info
Publication history
Published online: June 22, 2022
Accepted:
June 15,
2022
Received in revised form:
June 12,
2022
Received:
March 19,
2022
Identification
Copyright
© 2022 Published by Elsevier Inc.
