Genital abnormalities: Contextualization of a neglected area in prenatal diagnosis

Abstract

OBJECTIVE: To reflect on how the area of genital abnormalities has fallen behind in prenatal diagnosis. METHODS: Based on the thesis that prenatal diagnosis of genital abnormalities has scarcely developed, a comparison with other areas of prenatal diagnosis and with its postnatal counterpart is presented; different explanations for this situation are examined; and a reflection is presented on ways to expand this field of knowledge. CONCLUSIONS: Compared to other disciplines, prenatal diagnosis of genital abnormalities finds itself lagging behind in terms of diagnostic tools, management protocols and scientific literature. Potential causes include a perception of low prevalence and limited importance, or exploration challenges. Integration of current knowledge, together with the acquisition of the appropriate tools and translation to clinical medicine, would be a way to make this discipline stronger.