Abstract Background Cloacal malformation is extremely rare, occurring in approximately 1 in 25 000 births. It frequently has associated Müllerian anomalies that require surgical correction. Case We ...describe here a patient with cloacal malformation, solitary kidney, bilateral fallopian tube obstruction, and didelphic uterus who required in vitro fertilization to conceive. Conclusion Careful surveillance resulted in an excellent pregnancy outcome with term delivery.
53-67% of individuals with cloaca have associated Müllerian anomalies; 36-41% experience menstrual obstruction at puberty. No established, reliable, or safe test exists to determine the patency of ...the pre-pubertal Müllerian system. Thus, saline perturbation (SP) was designed to assess patency during indicated laparoscopic or open abdominal surgery by cannulating the fallopian tubes and injecting saline as a “test menstrual period” to avoid future obstructions and pain crises. This study sought to assess the reliability and clinical outcomes of SP in predicting the future patency of the Müllerian system among females with cloaca.
Following IRB approval, a retrospective review of patients with a diagnosis of cloaca who had undergone SP at a single institution from 2005 to 2022 was conducted. Follow up notes, imaging, and operative reports were reviewed. Menstrual patency was defined by the absence of obstruction on pelvic imaging and/or absence of obstruction symptoms within 2 years of menarche, or in patients with amenorrhea, studies completed between the ages of 9 to 13 were assessed. Exclusion criteria included individuals with 48 XY karyotype, raised as males.
A total of 219 patients with cloaca were identified, 58 (26%) of whom had undergone SP. A total of 26 patients met inclusion criteria. 21/26 (81%) were noted to have a patent Müllerian system by SP. 20/21 (95%) of these patients were confirmed to have subsequent patency. 1 patient with previous patency on SP was noted to have later obstruction identified on imaging. 5/26 (19%) patients were suspected to have Müllerian obstruction based on SP. 3/5 (60%) of these patients were confirmed to have obstruction, while 2/5 (40%) were noted to have patency of the Müllerian system despite initial suspicion for obstruction. The positive predictive value of saline perturbation was 60%, while the negative predictive value was 95%. One patient who underwent SP had a confirmed patent Müllerian system subsequently developed a unilateral hydrosalpinx, which was managed with leuprolide followed by combined hormonal contraception. The only other possible delayed post-operative complication was the development of a peritoneal fluid collection after puberty/menarche.
Premenarchal SP at time of other medically indicated surgery (laparoscopic or open) among individuals with cloaca is a safe and reliable procedure to identify those individuals who are low risk for obstruction, with a negative predictive value of 95%. Ongoing close surveillance for obstruction in this patient population is recommended, especially after puberty and menarche.
Müllerian anomalies are present in 7% of reproductive aged women, 32% of which are obstructive in nature causing hematometrocolpos with the onset of menarche. Of patients with known renal anomalies, ...29% will have a concomitant Müllerian anomaly. Despite this known association between renal and Müllerian anomalies, screening for Müllerian anomalies within individuals with renal anomalies remains low and there are currently no standardized screening guidelines for this high-risk population. As a result, the diagnosis of obstructive Müllerian anomaly is missed until after menarche when patients can present in severe pain requiring urgent surgery. The objective of this study was to determine if screening all females with known renal anomalies for Müllerian anomalies is cost-effective compared to no screening.
A cost-effectiveness model using TreeAge software was designed to evaluate the cost and effectiveness associated with screening individuals with a known renal anomaly for a Müllerian anomaly compared to no screening for a Müllerian anomaly. The estimated cost of management and treatment for complex obstructive Müllerian anomaly was derived from existing literature guided by information gained from an IRB-approved case series conducted at our institution. The remainder of model inputs were derived from the existing literature and expert opinion. A cost-effectiveness threshold was set at $100,000/QALY, and sensitivity analyses were conducted to assess the robustness of the results.
In our theoretical cohort of 11,000 females with a renal anomaly, screening for an associated Müllerian anomaly resulted in lower costs ($16 million) and increased effectiveness (90 QALYs). Screening also led to 191 fewer cases of re-stenosis following definitive surgery.
Screening for Müllerian anomaly at onset of puberty in this high-risk population of females with known renal anomaly is a dominant, cost-effective strategy. As such, we advocate that screening for Müllerian anomalies in patients with known renal anomalies should be standard of care.
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