Etchegaray Adolfo, Juarez-Peñalva Sofia, Petracchi Florencia, Igarzabal Laura
Unidad de Medicina Fetal, Hospital Universitario Austral, Pilar, Buenos Aires, Argentina.
Servicio de Genética, CEMIC, Buenos Aires, Argentina.
Childs Nerv Syst. 2020 Aug;36(8):1645-1660. doi: 10.1007/s00381-020-04526-5. Epub 2020 Jan 31.
Fetal ventriculomegaly (VM) is a frequent finding in prenatal ultrasound. Rather than a proper diagnosis, VM is a sonographic sign, making prenatal counseling a complex and challenging undertaking. VM can range from severe pathologic processes leading to severe neurodevelopmental delay to normal variants.
A growing number of genetic conditions with different pathophysiological mechanisms, inheritance patterns, and long-term prognosis have been associated both to isolated and complex fetal VM. These include chromosomal abnormalities, copy number variants, and several single gene diseases. In this review, we describe some of the most common genetic conditions associated with fetal VM and provide a simplified diagnostic workflow for the clinician.
胎儿脑室扩大（VM）是产前超声检查中常见的发现。VM并非一种确切的诊断，而是一种超声征象，这使得产前咨询成为一项复杂且具有挑战性的工作。VM的范围涵盖从导致严重神经发育迟缓的严重病理过程到正常变异。
越来越多具有不同病理生理机制、遗传模式和长期预后的遗传疾病已被证实与孤立性和复杂性胎儿VM相关。这些包括染色体异常、拷贝数变异和几种单基因疾病。在本综述中，我们描述了一些与胎儿VM相关的最常见遗传疾病，并为临床医生提供了一个简化的诊断流程。
