5. Post-thelarche Screening Pelvic Ultrasound in Females with Anorectal Malformations: Compliance and Findings

Abstract

<h3>Background</h3> Anorectal malformations (ARM) are congenital defects that affect up to 1 in 5,000 babies; females with ARM are at higher risk for Mullerian anomalies, which are often difficult to diagnose prior to puberty. The objective of this study was to evaluate compliance with the recommended 6 month post-thelarche screening PUS, correlation between suspected Mullerian anatomy and the screening PUS findings, and the likelihood of identifying other gynecologic findings at the time of screening PUS in patients with ARMs. <h3>Methods</h3> Our institution has 112 post-thelarche females with ARM. After IRB approval, we performed a retrospective chart review of this cohort's medical records for demographics, suspected Mullerian anatomy (identified by previous imaging, either an MRI or US, and/or intraoperative findings), whether a screening PUS was performed, the PUS findings, and subsequent gynecologic interventions. Patient characteristics were reported as frequencies and percentages for categorical variables and compared using the nonparametric chi-square test. A significance threshold of p < 0.05 was utilized for all tests. All statistical analyses for this study were performed using Microsoft Excel and Stata 14.0 (StataCorp LP, College Station, Texas, USA). <h3>Results</h3> Of the 112 patients reviewed, 80 (71.4%) patients received the recommended post-thelarche screening PUS with a compliance rate of 71.4% (p<0.05). In 3 (3.8%) cases, presumed Mullerian anatomy prior to the screening PUS did not match PUS findings (p<0.05). Four (5.0%) separate patients received gynecologic interventions based on screening PUS findings: initiation of menstrual suppression, paratubal cystectomy, unilateral salpingectomy for hydrosalpinx and ovarian cystectomy, and bilateral salpingectomy. When we combined the presumed Mullerian anatomy with post-thelarche PUS findings, we identified an additional 2 (2.5%) patients at high risk of menstrual outflow obstruction. Incidentally, PUS identified ovarian cysts in 2 patients (2.5%), which required no additional imaging, medical, or surgical intervention. In summary, 9 (11.3%) of these patients were found to have a change in their clinical course based on post-thelarche screening PUS (p<0.05). <h3>Conclusions</h3> Our overall compliance rate with the recommended post-thelarche screening PUS was high (71.4%), correlated well with suspected Mullerian anatomy (96.3%), and changed the clinical management of 9 (11%) of patients. A post-thelarche screening PUS is valuable in the ARM population to stratify the risk of menstrual outflow obstruction, define Mullerian anatomy unknown prior to puberty, and diagnose gynecology abnormalities that required medical or surgical intervention. A prospective controlled study is necessary to confirm these findings.