BACKGROUND Aim of this retrospective study was to describe clinical characteristics, diagnostic work-up, management and follow-up of newborns with neural tube defects (NTDs), admitted to the Mother and Child Department of the University Hospital of Palermo, in a ten years period. METHODS The medical records of 7 newborns (5 males and 2 females) admitted, over a 10-year period from January 2010 to March 2020, to our Department on the first day of life were reviewed. Analyzed data were related to familiar and/or maternal risk factors (consanguinity, maternal preexisting and/or gestational diseases, exposure to teratogen/infectious agents, lack of preconception folic acid supplement), demographic (ethnicity/origin, residence) and clinical features (eventual use of assisted reproduction techniques, prenatal diagnosis, gestational age, fetal presentation, type of delivery, birth weight, preoperative imaging, antibiotics and analgesics use, description of the surgery intervention, length of hospital stay, comorbidities, complications), and follow-up. RESULTS In our sample we observed a wide spectrum of NTDs: 3 newborns had open NTDs, namely myelomeningocele (2 lumbosacral, one of which associated with extradural lipoma, and 1 sacral), and 4 closed ones, including 2 with meningocele (occipital), 1 filar lipoma associated with dermal sinus, and 1 terminal myelocystocele. Our patients were discharged between 8 and 22 days of life. The neurodevelopmental follow-up showed a favorable outcome for 4 of the 7 patients, and the appearance over time of neurological impairment (motor and/or autonomic) in the newborns with open NTDs. CONCLUSIONS This study describes familiar and/or maternal risk factors and demographic and clinical features of a single-center series of newborns with NTDs. It may provide a further outline of the actual phenotypic spectrum of these malformations, and new insights into epidemiological aspects and comprehensive management of the patients, including diagnostic work-up and follow-up evaluations.

中文翻译：

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二级大学医院神经管缺损的新生儿十年回顾性研究。

背景这项回顾性研究的目的是描述十年后进入巴勒莫大学医院母婴科的神经管缺损（NTD）新生儿的临床特征，诊断工作，管理和随访情况。期。方法回顾了2010年1月至2020年3月这10年间出生第一天进入我科的7例新生儿（5例男性和2例女性）的病历。分析数据与熟悉和/或孕产妇的危险因素（血缘关系，孕产妇既存和/或妊娠疾病，接触致畸物/传染病，缺乏孕前叶酸补充剂），人口统计学（种族/起源，居住地）和临床特征（最终使用辅助生殖技术，产前诊断，胎龄，胎儿表现，分娩类型，出生体重，术前影像学，抗生素和止痛药的使用，手术干预的描述，住院时间，合并症，并发症）以及随访情况。结果在我们的样本中，我们观察到了广泛的NTD：3个新生儿有开放性NTD，即髓脑膜膨出（2个腰s部，其中1个与硬膜外脂肪瘤相关，1个骨）和4个闭合性NTD，包括2个脑膜膨出（枕骨）， 1例与皮肤窦相关的丝状脂肪瘤，和1例末期骨髓囊肿。我们的患者在8至22天的生命中出院。神经发育随访显示7例患者中有4例具有良好的预后，并且随着时间的推移在开放性NTD的新生儿中出现神经功能障碍（运动和/或自主神经）。结论本研究描述了单中心NTDs新生儿的熟悉和/或孕产妇危险因素以及人口统计学和临床​​特征。它可以提供这些畸形的实际表型谱的进一步概述，以及对流行病学方面和患者综合管理的新见解，包括诊断性随访和随访评估。