Department of Radiology, University Hospital of Lausanne (CHUV) and University of Lausanne (UNIL), Lausanne, Switzerland.
Department of Pathology, University Hospital of Lausanne (CHUV) and University of Lausanne (UNIL), Lausanne, Switzerland.
Prenat Diagn. 2023 Jan;43(1):84-94. doi: 10.1002/pd.6264. Epub 2022 Nov 23.
Complex female genitourinary system anomalies include a wide spectrum of uncommon pathologies, caused from the abnormal separation of the urorectal septum and the urogenital sinus in early embryonic life. The resulting fusion of the distal urinary, genital and intestinal tracts increases the risk of death in utero and alters the normal organ functionality and the quality of life in survivors. An accurate prenatal identification of these pathologies depends mainly on prior suspicion at ultrasound screening, but also requires a solid knowledge of embryology and familiarity with the different patterns of malformation. Prenatal MRI provides an excellent anatomic evaluation of the fetal anatomy that may improve the diagnosis in complex cases with inconclusive echographic findings. The additional information can help both families and medical teams to better evaluate the severity of the pathology and the postnatal prognosis and therefore to better orientate the management during pregnancy, at delivery and after birth. This review article describes the embryological basis and the clinical findings of the most relevant pathologies included in the spectrum. It also describes the imaging signs on prenatal MRI studies in a series of confirmed cases and proposes a diagnostic algorithm based on imaging findings for guiding prenatal diagnosis.
复杂女性泌尿生殖系统异常包括一系列罕见的疾病，这些疾病是由早期胚胎生活中尿直肠隔和尿生殖窦异常分离引起的。由此导致的远端泌尿道、生殖器和肠道融合增加了胎儿在子宫内死亡的风险，并改变了幸存者的正常器官功能和生活质量。这些病变的准确产前识别主要取决于超声筛查时的事先怀疑，但也需要对胚胎发生有扎实的了解，并熟悉不同的畸形模式。产前 MRI 可对胎儿解剖结构进行极好的评估，有助于改善超声检查结果不确定的复杂病例的诊断。额外的信息可以帮助家庭和医疗团队更好地评估病理的严重程度和产后预后，从而更好地指导妊娠期间、分娩期间和出生后的管理。本文综述了该范围内最相关病变的胚胎学基础和临床发现。它还描述了一系列确诊病例的产前 MRI 研究中的影像学征象，并根据影像学表现提出了一种诊断算法，用于指导产前诊断。
