Sonographic evaluation of fetal scrotum, testes and epididymis.

External male genitalia have rarely been evaluated on fetal ultrasound. Apart from visualization of the penis for fetal sex determination, there are no specific instructions or recommendations from scientific societies. This study aimed to review the current knowledge about prenatal diagnosis of the scrotum and internal structures, with discussion regarding technical aspects and clinical management. We conducted an article search in Medline, EMBASE, Scopus, Google Scholar, and Web of Science databases for studies in English or Spanish language that discussed prenatal scrotal pathologies. We identified 72 studies that met the inclusion criteria. Relevant data were grouped into sections of embryology, ultrasound, pathology, and prenatal diagnosis. The scrotum and internal structures show a wide range of pathologies, with varying degrees of prevalence and morbidity. Most of the reported cases have described incidental findings diagnosed via striking ultrasound signs. Studies discussing normative data or management are scarce.

[Genital abnormalities: Contextualization of a neglected area in prenatal diagnosis].

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.

TITULO: ANOMALÍAS GENITALES: CONTEXTUALIZACIÓN DE UN CAMPO OLVIDADO EN EL DIAGNÓSTICO PRENATAL. OBJETIVO: Hacer una reflexión sobre el bajo desarrollo que hay actualmente en el campo del diagnóstico prenatal de las anomalías genitales. METODOS: A partir de la tesis de que el desarrollo del diagnóstico antenatal de las anomalías genitales es escaso, se presenta una comparación con el estado actual de otros campos del diagnóstico prenatal, así como con su contrapartida posnatal; se analizan las distintas causas que pueden haber llevado a esta situación, y se reflexiona sobre formas de mejora de esta área del conocimiento médico. CONCLUSIONES: En comparación con otras áreas del diagnóstico prenatal, la detección de anomalías genitales tiene un menor nivel de desarrollo en cuanto a la disponibilidad de herramientas diagnósticas, de protocolos de manejo o investigación clínica. Algunas causas probables son la percepción de baja prevalencia, una importancia limitada o las dificultades para su exploración. Una forma de reforzar este componente de la medicina fetal sería la integración del conocimiento actual, la adquisición de herramientas adecuadas, y una traslación a la medicina clínica.

Fetal sex discordance.

Fetal sex discordance is an entity that is becoming more frequent due to the expansion of the cfDNA for prenatal diagnosis. Its incidence can be estimated in 1/1500-2000 pregnancies, a frequency as high as that of some common chromosomopathies. The causes of this phenomenon are multiple and diverse, ranging from laboratory errors to important pathologies such as disorders of sexual differentiation. The management of a case of fetal sex discordance must be structured, starting with the review of the clinical history and the tests performed, and may require the performance of invasive tests to reach a diagnosis. Prevention through adequate pretest counseling and ultrasound confirmation can help to reduce its incidence.

Genital abnormalities: Contextualization of a neglected area in prenatal diagnosis / Anomalías genitales: contextualización de un campo olvidado en el diagnóstico prenatal

RESUMEN Objetivo: hacer una reflexión sobre el bajo desarrollo que hay actualmente en el campo del diagnóstico prenatal de las anomalías genitales. Materiales y métodos: a partir de la tesis de que el desarrollo del diagnóstico antenatal de las anomalías genitales es escaso, se presenta una comparación con el estado actual de otros campos del diagnóstico prenatal, así como con su contrapartida posnatal; se analizan las distintas causas que pueden haber llevado a esta situación, y se reflexiona sobre formas de mejora de la especialidad. Conclusión: en comparación con otras áreas del diagnóstico prenatal, la detección de anomalías genitales tiene un menor nivel de desarrollo en cuanto a la disponibilidad de herramientas diagnósticas, de protocolos de manejo o investigación clínica. Algunas causas probables son la percepción de baja prevalencia, una importancia limitada o las dificultades para su exploración. Una forma de reforzar este componente de la medicina fetal sería la integración del conocimiento actual, la adquisición de herramientas adecuadas, y una traslación a la medicina clínica.

ABSTRACT Objective: To reflect on how the area of genital abnormalities has fallen behind in prenatal diagnosis. Materials and 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 made on ways to improve the specialty. Conclusion: 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.

Sonographic measure techniques of fetal penile length.

Postnatal penile length is a reliable, standardized, and widely used marker for the diagnosis of genitourinary pathology, as well as genetic and hormonal disorders. In contrast, prenatal diagnosis has not been developed equally and there is a lack of relevant literature. Our objective is to review the studies on fetal penile length, and apply findings to clinical practice. Although the most used technique is the outer penile length, there is no consensus regarding the appropriate technique for prenatal measurement. Several reports have provided reference data with high correlation. However, important issues like poor correlation with post-natal measures or presence of confounding variables are still present. Diagnosis of both a micropenis and macropenis can indicate related pathologies, and this information may benefit parental counseling and facilitate fetal management. Therefore, it is necessary to carry out prospective studies that provide reliable normative data.