Current Work-Up for Screening and Diagnosing Female Genital Malformations

Aim(s): to describe and critically evaluate the role of the currently available diagnostic techniques for female genital tract anomalies, taking into account their diagnostic performance, availability, cost and invasiveness; to propose a practical and updated algorithm for screening and diagnosing female genital malformations, in order to address the patient to the proper treatment. Brief description of the reviewed data: the evidence to date suggests that several investigations have a satisfactory overall diagnostic performance in diagnosing the presence of a female genital tract congenital anomaly. The most accurate investigations in order seem to be: (i) 3D US, (ii) HyCoSy, (iii) MRI, (iv) 2D US and (v) HSG. Recently, new data are emerging regarding the integration of hysteroscopic findings with 3D US data. Clinical implications: when a female genital tract anomaly is suspected, the gynaecological examination should be the initial approach before scheduling the patients for further investigations. Then, 2D-US should be the basic imaging method, which could be enlarged with HyCoSy and ambulatory mini-hysteroscopy. Finally, further detailed information on uterine anatomy can be obtained with the use of 3D-US, in order to address the patient to the proper treatment. Open issues for further research: further studies are still needed to validate this practical and updated algorithm for screening and diagnosing female genital malformations, as well as for enhancing the use of a standardized diagnostic codes, in order to improve communication among different specialists and centres.