Ravi Kumar S, Hassan Sameeullah B, Pasi Rachna, Mittra Sangh, Kumar Raj
Departments of Anatomy, All India Institute of Medical Sciences, Rishikesh, Uttarakhand, India.
Department of Pediatrics, All India Institute of Medical Sciences, Mangalagiri, Andhra Pradesh, India.
J Family Med Prim Care. 2021 Dec;10(12):4383-4390. doi: 10.4103/jfmpc.jfmpc_904_21. Epub 2021 Dec 27.
Neural Tube Defects are the most typical congenital malformations, with almost 300,000 cases annually worldwide. The incidence varies amongst geographical ranges from 0.2 to up to 11 per 1000 live births. In India, incidence is reportedly higher in north than south and can be attributable to diet and genetic variances. Etiology is multifactorial. Severe forms of whitethorn are allied with syndromes. Primary neurulation and secondary neurulation are the most crucial steps in the formation and closure of the neural tube; any interruption can lead to mild to severe NTDs depending on the level of insult during embryogenesis. Various molecular and cellular events take place simultaneously for neural tube bending and closure of the neural tube. Neurological deficit in the newborn is contingent on the level of defect and severity of the structures affected. Survival of the newborn also depends on the severity of the lesion. Folic acid supplementation in all prospective mothers, preferably 4 weeks before conception and at least 12 weeks after conception, can prevent NTDs in folic responsive groups. But there is a significant number of other causes leading to neural tube defects apart from folic acid. Hydrocephalus is the commonest abnormality allied with NTDs in syndromic cases.
NTDs are a frequent cause of stillbirths, infant mortality, and palsies in children. There are various reasons for NTDs, but the process of neurulation points towards some factors of NTC, which can be taken care of to lessen the burden of NTDs.
神经管缺陷是最典型的先天性畸形,全球每年约有30万例。发病率在不同地理区域有所不同,每1000例活产中从0.2到高达11例不等。在印度,据报道北方的发病率高于南方,这可能归因于饮食和基因差异。病因是多因素的。严重形式的棘状畸形与综合征有关。原发性神经胚形成和继发性神经胚形成是神经管形成和闭合的最关键步骤;任何中断都可能导致轻度至重度神经管缺陷,这取决于胚胎发育过程中的损伤程度。神经管弯曲和神经管闭合同时发生各种分子和细胞事件。新生儿的神经功能缺损取决于缺陷的程度和受影响结构的严重程度。新生儿的存活也取决于病变的严重程度。所有准母亲补充叶酸,最好在受孕前4周和受孕后至少12周,可以预防叶酸反应性群体中的神经管缺陷。但除叶酸外,还有大量其他导致神经管缺陷的原因。在综合征病例中,脑积水是与神经管缺陷相关的最常见异常。
神经管缺陷是死产、婴儿死亡和儿童麻痹的常见原因。神经管缺陷有多种原因,但神经胚形成过程指向一些神经管闭合不全的因素,可以加以关注以减轻神经管缺陷的负担。