Isolated hydrometrocolpos and cloacal malformation: can we prenatally distinguish them?—A case report and literature review

Abstract

Background

Hydrometrocolpos (HMC) is a rare prenatal ultrasound abnormality, presenting in two distinct types: urinary-type and secretory-type. The urinary variation is intricately linked to cloacal malformation (CM), thereby posing a heightened risk of perinatal adverse events. Additionally, children affected by this type often face long-term challenges that impact their quality of life. Therefore, predicting the presence of CM in HMC fetuses is of great clinical significance.

Case presentation

We present a case involving hydrometrocolpos accompanied by oligohydramnios. Prenatally, the condition was strongly indicative of CM based on imaging manifestations and intrauterine procedures, a suspicion that was later confirmed through postnatal autopsy.

Conclusion

Due to the extremely low incidence of HMC, current literature primarily consists of case reports, and there are no studies that comprehensively analyze the prognosis of the disease. This research fills this gap by statistically analyzing the present case as well as 164 prenatal HMC cases reported in the previous literature. Gestational age (GA) at initial detection, the presence of fetal ascites, urinary tract dilatation, anorectal imaging abnormalities, and Müllerian anomalies are meaningful predictors of CM in HMC fetuses. Intrauterine procedures can be used to preserve organ function in complete lower urinary tract obstruction and oligohydramnios secondary to HMC. In addition, biochemical analysis of HMC fluid can differentiate between urinary-type HMC and secretory-type HMC. This study provides valuable insights into the prognostic factors and management strategies for HMC, which could guide clinical decision-making in prenatal care.