...
  • 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>Case Reports in Obstetrics and Gynecology >Prenatal Sacrococcygeal Teratoma Diagnosed in a Fetus with Partial Trisomy 13q22
【24h】

Prenatal Sacrococcygeal Teratoma Diagnosed in a Fetus with Partial Trisomy 13q22

机译：prenatal sacococcygeal畸胎瘤诊断为胎儿，部分三胞肌病13q22

获取原文
           
页面导航
  • 摘要
  • 著录项
  • 相似文献
  • 相关主题

摘要

Sacrococcygeal teratoma is a rare neoplasm that arises from a totipotent stem cell in Henson’s node. It has rarely been associated with chromosomal abnormalities. We present a unique case of a 25-year-old primigravida at 19 weeks and 5 days of gestation found to have an exophytic complex mass with cystic and solid components in the sacral region. This mass was consistent with a sacrococcygeal teratoma. The patient had originally declined genetic screening. After the ultrasound and genetic counseling, she opted to have cell-free fetal DNA screening that was positive for Trisomy 13. Amniocentesis was performed to confirm the diagnosis. The karyotype demonstrated an abnormality of chromosome 13 and microarray demonstrated a complex structural abnormality of chromosome 13 with large regions of copy number gain. The patient underwent a dilation and evacuation at 23 weeks and 2 days. No fetal autopsy was done. This is a case of a prenatally diagnosed sacrococcygeal teratoma associated with Trisomy 13. It illustrates the diagnostic importance of amniocentesis in setting of fetal anatomical abnormalities on ultrasound. For patients who are reluctant to undergo amniocentesis, cell-free DNA results may provide the additional evidence of the need for diagnostic tests.
机译：Sacrococcygeal畸胎瘤是一种罕见的肿瘤，由Henson节点的Totipotent干细胞产生。它很少与染色体异常有关。我们在19周和5天内呈现了25岁的血脂田，发现5天的妊娠发现具有骶骨区囊性和固体组分的突出复合物质。这种质量与Sacrococcygeal畸胎瘤一致。患者最初拒绝遗传筛查。在超声和遗传咨询之后，她选择具有无细胞的胎儿DNA筛选，对于三胞质13呈阳性。进行羊膜穿孔以确认诊断。核型证明了染色体13的异常，微阵列显示了染色体13的复杂结构异常，具有大的拷贝数增益。患者在23周和2天后经历了扩张和疏散。没有完成胎儿尸检。这是一种与三胞质13相关的预先诊断的骶尾皮肤畸胎瘤的情况。它说明了羊膜穿刺在超声波胎儿解剖学异常的诊断重要性。对于不情愿的患者进行羊膜穿刺术，无细胞DNA结果可以提供额外的诊断测试证据。

著录项

相似文献

  • 外文文献
  • 中文文献
  • 专利
获取原文

客服邮箱：kefu@zhangqiaokeyan.com

京公网安备：11010802029741号 ICP备案号：京ICP备15016152号-6 六维联合信息科技 (北京) 有限公司©版权所有

  • 客服微信

  • 服务号