Department of Pediatrics, Grant Government Medical College and Sir JJ Group of Hospitals, Mumbai, Maharashtra, India.
Childs Nerv Syst. 2024 Jan;40(1):163-170. doi: 10.1007/s00381-023-06078-w. Epub 2023 Jul 15.
Neural tube defects (NTDs) are one of the most common congenital anomalies and a cause of chronic disability. The study was done to study outcomes of neural tube defects admitted at a tertiary level neonatal intensive care unit (NICU) from 2018 to 2022, a period of 4 years that also coincided with the COVID pandemic. The secondary outcome was to study the clinical presentation, associated anomalies and epidemiological features.
It was a retrospective observational study; data of infants was obtained from medical records and analysis was done.
Thirty-four neonates were enrolled, of which there were 16 (47%) males and 18 (53%) females. History of pre-pregnancy maternal folate intake was present in 4 (11.7%) cases. 33 (97%) babies were diagnosed with meningomyelocele (MMC) and one each had anencephaly, iniencephaly and encephalocele, of which one had frontal and two had occipital encephalocele. The median age of surgery was 16 days of life with primary repair being the most common procedure followed by MMC repair with VP shunt. Twenty babies (58.8%) were discharged successfully, while 9 (26.5%) expired and 5 (14.7%) were discharged against medical advice; which can be attributed to the financial problems of the patients in a developing country. The overall deaths in our series were four (26.5%) which is slightly higher than other studies which may be due to the fact that this study was conducted during the COVID era with lesser rates of folate supplementation, reduced access to prenatal diagnosis coupled with poor follow-up and compliance of patients post-surgical repair.
This study emphasizes the importance of periconceptional folic acid supplementation, prenatal diagnosis, early surgery and meticulous follow-up as being pivotal to improving outcomes in children with NTDs.
神经管缺陷(NTDs)是最常见的先天性畸形之一,也是慢性残疾的原因。本研究旨在研究 2018 年至 2022 年期间在三级新生儿重症监护病房(NICU)住院的神经管缺陷患儿的结局,这一时期恰逢 COVID 大流行。次要结局是研究临床表现、相关异常和流行病学特征。
这是一项回顾性观察性研究;从病历中获取婴儿数据并进行分析。
共有 34 例新生儿入组,其中男婴 16 例(47%),女婴 18 例(53%)。4 例(11.7%)患儿母亲在孕前有叶酸摄入史。33 例(97%)患儿诊断为脊膜脊髓膨出(MMC),1 例无脑儿,1 例无脑回畸形,1 例脑膨出,其中 1 例为额部,2 例为枕部脑膨出。手术的中位年龄为 16 天,最常见的手术是一期修补术,其次是 MMC 修补术联合 VP 分流术。20 例(58.8%)患儿成功出院,9 例(26.5%)死亡,5 例(14.7%)因医疗建议出院;这可能归因于发展中国家患者的经济问题。在我们的研究中,总的死亡人数为 4 例(26.5%),略高于其他研究,这可能是由于本研究是在 COVID 时代进行的,叶酸补充率较低,产前诊断机会减少,加上患者术后随访和依从性较差。
本研究强调了围孕期叶酸补充、产前诊断、早期手术和细致的随访对于改善 NTD 患儿结局的重要性。