Clinical spectrum of female genital malformations in prenatal diagnosis

Introduction Fetal genital malformations represent a rare and heterogeneous group of congenital malformations of the disorders of sexual development (DSD) spectrum. Methods A thorough literature review on the main topics in the prenatal approach towards DSD was conducted. Results First, a thorough overview on prenatal characteristics of the most common fetal genital malformations of ovaries, uterus and external genitalia, and second, a standardized approach for differential diagnosis in the presence of direct and indirect prenatal signs of DSDs. Conclusions This review is mainly directed towards the aspects of female genital malformations with aspects of male DSD explained as well to aid in the prenatal differential diagnosis.

Automated summary

This review provides a comprehensive overview on the prenatal characteristics of common fetal genital malformations and a standardized approach for differential diagnosis in the presence of direct and indirect prenatal signs of DSDs, with a focus on female genital malformations and explanations on male DSD aspects.