Vinutha S P, Narayanappa D, Manjunath G V, Sujatha M S, Sapna Patel M C, Bhat Deepa
Department of Anatomy, JSS Medical College, JSS Academy of Higher Education and Research, Mysuru, Karnataka, India.
Department of Pediatrics, JSS Medical College, JSS Academy of Higher Education and Research, Mysuru, Karnataka, India.
Ann Neurosci. 2020 Jul;27(3-4):224-231. doi: 10.1177/0972753121990169. Epub 2021 Mar 1.
Congenital central nervous system (CNS) anomalies are the structural or functional abnormalities of the brain and spinal cord that occur during the intrauterine developmental process.
The present study aims to detect the prevalence of congenital CNS anomalies among stillborn fetuses, the association between congenital anomalies and maternal factors, and also the association between autopsy and ultrasound findings.
This study was conducted on 50 stillborn fetuses, obtained from the Department of Obstetrics and Gynecology at JSS Medical College and Hospital, Mysuru. The fetuses were fixed in 10% formalin and autopsies were performed as per the standard fetal autopsy protocol. The congenital CNS anomalies were studied in detail.
CNS anomalies were the most common congenital anomalies observed. Out of the total 50 stillborn fetuses studied, CNS anomalies were found in 17 fetuses and their occurrence was more common among male stillborn than females. Meningomyelocele was the most common anomaly, followed by anencephaly. The other anomalies documented were meningocele, encephalocele, meningoencephalocele, agenesis of the corpus callosum, craniorachischisis, bifid cerebellum with hypoplastic vermis, holoprosencephaly, and sirenomelia.Fisher's exact test showed a significant association between maternal hypothyroidism and congenital CNS anomalies ( < .05). The autopsy confirmed the ultrasound findings in 40 (80%) fetuses. There were significant additional findings observed in seven (14%) fetal autopsies and ultrasound diagnosis completely changed in three (6%) cases, after the final autopsy procedure.
The fetal autopsy is the single most directly evident investigation, which gives information that changes or significantly improves the clinical diagnosis. A multidisciplinary holistic approach toward pregnancy will help to detect any kind of abnormality in the fetus and thus to take a timely decision toward the management.
先天性中枢神经系统（CNS）异常是指在子宫内发育过程中发生的脑和脊髓的结构或功能异常。
本研究旨在检测死产胎儿中先天性CNS异常的患病率、先天性异常与母体因素之间的关联，以及尸检与超声检查结果之间的关联。
本研究对50例死产胎儿进行，这些胎儿来自迈索尔JSS医学院和医院的妇产科。将胎儿固定在10%的福尔马林中，并按照标准的胎儿尸检方案进行尸检。对先天性CNS异常进行了详细研究。
CNS异常是观察到的最常见的先天性异常。在研究的50例死产胎儿中，有17例发现CNS异常，且其在男性死产胎儿中比女性更常见。脊髓脊膜膨出是最常见的异常，其次是无脑儿。记录的其他异常包括脑膜膨出、脑膨出、脑膜脑膨出、胼胝体发育不全、颅脊柱裂、小脑蚓部发育不全的双裂小脑、前脑无裂畸形和并腿畸形。费舍尔精确检验显示母体甲状腺功能减退与先天性CNS异常之间存在显著关联（P<0.05）。尸检在40例（80%）胎儿中证实了超声检查结果。在7例（14%）胎儿尸检中观察到了显著的额外发现，在最终尸检程序后，3例（6%）病例的超声诊断完全改变。
胎儿尸检是最直接明显的单一检查，它提供的信息会改变或显著改善临床诊断。对妊娠采取多学科整体方法将有助于检测胎儿的任何异常，从而及时做出管理决策。
