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Updated: Nov 28, 2025

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
Published on: August 25, 2019
[Genital abnormalities: Contextualization of a neglected area in prenatal diagnosis]
1Unidad de Diagnóstico Prenatal,Hospital General Universitario Santa Lucía, Cartagena, España.
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.
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