Uterine Malformations: An Update of Diagnosis, Management, and Outcomes

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Abstract

Importance

The prevalence of uterine malformations has been reported in up to 7% of the general population and 18% of those with recurrent pregnancy loss. The diagnosis, classification, management, and outcome of the management have been subject to debate for decades.

Objective

The aim of this article is to summarize the current knowledge regarding the genetics of müllerian anomalies, the varied classification schemes, the appropriate diagnostic modalities, the surgical methods, and the obstetric outcomes related to these surgical methods.

Evidence Acquisition

An extensive literature review using the key words uterine anomaly, classification, mullerian, agenesis, unicornuate, didelphys, bicornuate, septate, arcuate, DES, and diethyl stilbestrol was conducted using PubMed. Only English-language publications were reviewed. Relevant references within these publications were also obtained and reviewed in preparing this article.

Results

Only 4 genes have been clearly linked to müllerian anomalies in humans. All these have been described only in syndromic patients. Four different classification schemes have been proposed including the American Society of Reproductive Medicine classification. There is accumulating evidence that 3-dimensional ultrasonography is an effective and less expensive diagnostic tool. Many innovative surgical methods have been developed for the various categories of anomalies, particularly for müllerian agenesis. Although there is accumulating evidence for the improved obstetric outcomes after surgical repairs, robust evidence from randomized trials is lacking.

Conclusions

Current evidence favors continued use of the American Society of Reproductive Medicine classification. Three-dimensional sonography, especially when combined with saline infusion, can be very helpful in accurately classifying müllerian anomalies.

Relevance

Müllerian anomalies are relatively common. Accurate knowledge of the advantages and limitations of various diagnostic modalities, the limitations of the classification systems, the surgical options available where appropriate, and the obstetric outcomes after these surgeries will help in the optimal management of these patients.

Target Audience

Obstetrician and gynecologists.

Learning Objectives

After completion of this educational activity, the obstetrician/gynecologist should be better able to discuss the current controversies and new classifications of müllerian anomalies, describe the prevalence and pathogenesis of each müllerian anomaly, illustrate the various modalities for the diagnosis of müllerian anomalies, and outline the appropriate counseling and clinical practice for surgical management and obstetric outcomes for each anomaly.

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