Clinical spectrum of female genital malformations in prenatal diagnosis

女性生殖器畸形在产前诊断中的临床表现谱

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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.

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