Clinical spectrum of female genital malformations in prenatal diagnosis

Arch Gynecol Obstet. 2022 Dec;306(6):1847-1862. doi: 10.1007/s00404-022-06441-3. Epub 2022 Feb 27.

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.

Publication types

  • Review
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Female
  • Fetus
  • Genitalia*
  • Humans
  • Male
  • Pregnancy
  • Prenatal Care
  • Prenatal Diagnosis*
  • Uterus / abnormalities
  • Uterus / diagnostic imaging