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.

Keywords: Female genital malformation; Fetus; Prenatal diagnosis.

Fig. 1

Ovarian cyst in a female fetus in 36 + 3 weeks of gestation

Fig. 2

Hydrometrocolpos in a female fetus in 33 + 2 weeks of gestation. A fluid-filled vagina duplex (*) with sludge phenomenon connected to a fluid-filled uterus

Fig. 3

Fetal labia in 30 + 4 weeks of gestation. Characteristic multiple parallel linear echo pattern in a female fetus

Fig. 4

Female fetus in 13 + 0 weeks of gestation. Genital tubercle parallel to the horizontal line of the fetus (arrow) suggesting female gender in a fetus in the first trimester

Fig. 5.

3D sonography of the external female fetal genitalia in a 21 + 0 and b 32 + 2 weeks of gestation

Fig. 6

Differential diagnostic procedure in case of sonographic evidence of ambiguous genitalia or divergence between genotypic and phenotypic gender, adapted from [34, 72, 73]