Clinical spectrum of female genital malformations in prenatal diagnosis

Abstract

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.

Prenatal ambiguous/atypical genitalia: why are we still missing it and how can we improve diagnosis?

“…The primary prenatal guidelines for fetal ultrasound focus solely on the issue of sex disclosure 33,34 , except for a recent update in which it is recommended as good practice to just 'check the normal appearance of external genitalia' 35 . However, there are currently no prenatal guidelines specifically addressing fetal sex determination (except for the aforementioned 35 ), fetal genital pathology, prenatal DSDs or prenatal ambiguous/atypical genitalia, despite repeated calls for their inclusion 30,32,[36][37][38] . Furthermore, inclusion of the prenatal diagnosis of genital anomalies in the main postnatal guidelines and documents is minimal 2,3,6,7 .…”