Savukyne Egle, Krzconaviciute Saule, Vaitkeviciute Marija, Machtejeviene Egle, Rubaviciute Ieva
Medical Academy, Department of Obstetrics and Gynaecology, Lithuanian University of Health Sciences, Kaunas, Lithuania.
Medical Academy, Lithuanian University of Health Sciences, Kaunas, Lithuania.
Case Rep Perinat Med. 2023 Jan 11;12(1):20220025. doi: 10.1515/crpm-2022-0025. eCollection 2023 Jan.
The congenital embryonic tumor known as sacrococcygeal teratoma (SCT) affects 1 in 35.000-40.000 newborns and is more prevalent in female fetuses and neonates. A total of 25-50% of SCTs are diagnosed by an ultrasound (US) examination during the second trimester of pregnancy. Planning the manner of delivery, determining the risk of negative outcomes, and choosing treatment options depend on the results of antenatal differential diagnosis.
This is a unique case of a 29-year-old second gravida, suspected of having a fetal sacrococcygeal dysplasia differentiable between Type 2 SCT and terminal myelocystocele. An MRI revealed no typical SCT changes, as a matter of course, the diagnosis of myelocystocele could not have been excluded. The results of the genetic examination allowed to exclude the chromosomal pathology. Punctuation of the external component of the formation and a cytological examination were suggested. Nevertheless, the patient and her partner refused further studies and insisted on the termination of pregnancy. Medical abortion was induced and histological findings confirmed fetal morphology to be mature SCT.
Cystic sacrococcygeal teratoma is an unusual malformation of fetal development. In the antenatal period SCT is diagnosed based upon an ultrasound evaluation, an MRI, and a multidisciplinary assessment of clinical experts. Differential diagnosis based upon clinical imaging during the gestational period is elaborate. The final medical diagnosis needs to be verified by a histological evaluation of pathological tissue. An antenatal medical diagnosis of fetal dysplasia is considerable for the further prognosis of fetal and newborn development.
先天性胚胎肿瘤骶尾部畸胎瘤(SCT)在35000 - 40000名新生儿中发病率为1例,在女胎和新生儿中更为常见。孕期中期通过超声(US)检查可诊断出25% - 50%的SCT。分娩方式的规划、负面结果风险的判定以及治疗方案的选择取决于产前鉴别诊断的结果。
这是一例独特的病例,患者为一名29岁的经产妇,疑似胎儿骶尾部发育异常,可在2型SCT和终丝脊髓脊膜膨出之间进行鉴别。MRI未显示典型的SCT变化,当然,也不能排除脊髓脊膜膨出的诊断。基因检查结果排除了染色体病变。建议对肿物的外部成分进行穿刺及细胞学检查。然而,患者及其伴侣拒绝进一步检查并坚持终止妊娠。实施了药物流产,组织学检查结果证实胎儿形态为成熟的SCT。
囊性骶尾部畸胎瘤是一种不常见的胎儿发育畸形。在产前阶段,SCT通过超声评估、MRI以及临床专家的多学科评估进行诊断。孕期基于临床影像的鉴别诊断很复杂。最终的医学诊断需要通过病理组织的组织学评估来验证。胎儿发育异常的产前医学诊断对胎儿和新生儿发育的进一步预后具有重要意义。