Does presence of a VACTERL anomaly predict an associated gynecologic anomaly in females with anorectal malformations (ARM)? | Cross-sectional Retrospective Analysis | Pediatric Colorectal and Pelvic Learning Consortium (PCPLC) | 834 Females with ARM | 380 VACTERL association | RESULTS | Gynecologic anomalies | NO VACTERL association → 74 (16.3%) | VACTERL association → 149 (39.1%) p < 0.001 | With higher risk in rectoperineal & rectovestibular fistulas | The presence of renal anomalies presented even a higher risk for gynecologic anomalies | Conclusion: Patients w/ rectoperineal or rectovestibular fistulas & VACTERL association have higher risk of gynecologic anomalies. The diagnosis of VACTERL should prompt a thorough evaluation for gynecologic anomalies. | https://doi.org/10.1016/j.jpedsurg.2022.06.006 | Source: Ahmad H et al. | Department of Pediatric Colorectal and Pelvic Reconstructive Surgery, Nationwide Children's Hospital, United States | @StayCurrentMD | @gigenace | Cincinnati Children's | Journal of Pediatric Surgery
Does presence of a VACTERL anomaly predict an associated gynecologic anomaly in females with anorectal malformations?
Infographic · Apr 2023 · 2 min read
In brief
In brief
Multi-institutional study examining whether VACTERL association predicts gynecologic anomalies in female patients with anorectal malformations. Research from the Pediatric Colorectal and Pelvic Learning Consortium investigates correlation between VACTERL criteria and reproductive system defects in this patient population.
- 45.6% of female ARM patients had VACTERL association, with significantly higher gynecologic anomaly rates (39.1% vs 16.3%, p<0.001)
- VACTERL association increases gynecologic anomaly risk in rectovestibular (31.1% vs 10.0%) and rectoperineal fistulas (14.9% vs 6.1%)
- Renal anomalies in VACTERL patients confer highest gynecologic risk (44.2% vs 16.3%, p<0.001) warranting thorough evaluation
- Cloaca patients show high baseline gynecologic anomaly rates (61.5%) regardless of VACTERL status (p=0.308)
- Routine gynecologic screening is essential in ARM patients with VACTERL, particularly when renal anomalies are present
Written by the GCMD Library team from the infographic.
The infographic uses a teal and yellow color scheme with pink icons representing female gender and anatomical symbols. The layout is divided into sections showing study design at top, numerical results in the middle with large statistics, and a yellow conclusion box on the right. Pink kidney and uterus icons illustrate the anatomical focus.
Infographic by Dr. Cecilia Gigena
"Does presence of a VACTERL anomaly predict an associated gynecologic anomaly in females with anorectal malformations?: A Pediatric Colorectal and Pelvic Learning Consortium Study"
Authors: Hira Ahmad, Richard J. Wood, Jeffrey R. Avansino, Casey M. Calkins, Belinda Hsi Dickie, Megan M. Durham, Jason Frischer, Megan Fuller, Matt Ralls, Ron W. Reeder, Rebecca M. Rentea, Michael D. Rollins, Payam Saadai, Anne-Marie E. Amies Oelschlager 1, Lesley L. Breech 1, Geri D. Hewitt 1, Kirsten Kluivers 1, Kathleen D. van Leeuwen 1, Katherine A. McCracken
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