Division of Prenatal Medicine, Department of Gynecology and Obstetrics, University Hospital of Schleswig-Holstein, Luebeck, Germany.
Institute of Pathology, University Hospital of Schleswig-Holstein, Luebeck, Germany.
Fetal Pediatr Pathol. 2022 Oct;41(5):871-880. doi: 10.1080/15513815.2021.1994068. Epub 2021 Oct 23.
Congenital multisystemic lesions with co-occurrence of non-random malformations, such as VACTERL-H or MURCS association, often pose serious threads to the newborn and still constitute an antenatal diagnostic dilemma.
A malformed fetus with VACTERL-H association at 20 gestational weeks had a skin-covered neural tube defect (NTD) of the lower cervical spine, concomitant hydrocephalus, as well as unilateral multicystic dysplastic kidney and the suspicion of mullerian duct anomaly as potentially assigned to MURCS association.
DISCUSSION/CONCLUSION: We were able to demonstrate how well-defined, standardized volumetric reconstruction of diagnostic views displaying fetal pathology might aid early and precise diagnosis of multi-organ malformations. Application of modern diagnostic imaging tools is helpful in delineation of the most likely diagnoses (VACTERL-H vs. MURCS) as further specified during detailed pathologic work-up and might consequently facilitate individually tailored interdisciplinary counseling, as in the case presented here.
先天性多系统病变伴有非随机畸形的同时发生，如 VACTERL-H 或 MURCS 联合征，常对新生儿构成严重威胁，仍然是产前诊断的难题。
在 20 孕周时，一个伴有 VACTERL-H 联合征的畸形胎儿有一个覆盖皮肤的下颈椎神经管缺陷（NTD），同时伴有脑积水，单侧多囊性发育不良肾，以及对 Müllerian 管异常的怀疑，可能被归类为 MURCS 联合征。
讨论/结论：我们能够证明，显示胎儿病理学的明确、标准化的容积重建诊断视图可以帮助早期和精确诊断多器官畸形。应用现代诊断成像工具有助于描绘最可能的诊断（VACTERL-H 与 MURCS），在详细的病理检查中进一步明确，并因此有助于在像本例中那样进行个性化的跨学科咨询。
