Steric M, Stamenkovic J Dukanac, Srbinovic L, Janjic T, Petronijevic S Vrzic, Petronijevic M, Cetkovic A
Clin Exp Obstet Gynecol. 2015;42(1):57-61.
The objectives of this study were as follows: to present the course and outcome of pregnancies complicated with neural tube defects, determine the association between prenatal ultrasound diagnoses, and definitive diagnoses after autopsy.
The survey was designed as a retrospective study and included 24 pregnant women who were attending a regular ultrasound examinations at the Department of Gynecology and Obstetrics, Clinical Center of Serbia, or patients who were referred from other institutions in Serbia.
Neural tube defects are divided into five subgroups: spina bifida, meningocele, myelomeningocele, acranius, and anencephaly. The most frequent in the present study was spina bifida with 67%. All pregnancies complicated with neural tube defects were terminated.
Their clinical severity and uncertain cause make them priorities for further research, whether to better target primary preventive measures, to improve in-utero surgery for prenatal repair, or to identify the causative genes to provide an objective basis for individual genetic counselling.
本研究的目标如下：呈现合并神经管缺陷的妊娠过程及结局，确定产前超声诊断与尸检后确诊诊断之间的关联。
该调查设计为一项回顾性研究，纳入了24名在塞尔维亚临床中心妇产科接受常规超声检查的孕妇，或从塞尔维亚其他机构转诊而来的患者。
神经管缺陷分为五个亚组：脊柱裂、脊膜膨出、脊髓脊膜膨出、无脑颅骨畸形和无脑儿。本研究中最常见的是脊柱裂，占67%。所有合并神经管缺陷的妊娠均终止。
其临床严重性和病因不明使其成为进一步研究的重点，无论是为了更好地针对一级预防措施、改善产前修复的宫内手术，还是为了识别致病基因以便为个体遗传咨询提供客观依据。
