Department of Pediatrics, Selçuk University, Selçuklu Medical Faculty, Konya, Turkey.
Division of Neonatology, Selçuk University, Selçuklu Medical Faculty, Konya, Turkey.
Birth Defects Res. 2019 Mar 15;111(5):261-269. doi: 10.1002/bdr2.1462. Epub 2019 Feb 1.
Additional congenital anomalies have often been found in patients with neural tube defect (NTD). We aimed to find out the clinical features, short term prognosis, treatment approaches, and systemic anomalies of NTD patients in the Konya region.
A total of 186 newborn babies with NTD were retrospectively included in the study and all were assessed in detail for congenital anomalies and clinical features.
When the application month of the patients was examined, it was seen that the most frequent month was July. Of 186 babies, 101(54.3%) had meningomyelocele, 53 (28.5%) had meningocele, 13 (7.0%) had encephalocele, 16 (8.6%) had spina bifida occulta, and 4 (2.1%) had anencephaly. Of these patients, 97 (52.2%) were male and 89 (47.8%) were female. Hydrocephalus was an almost constant finding and was found in 140 (75.3%) patients. 51 (27.4%) patients had congenital heart disease (CHD). The most common CHD was atrial septal defect 22.3%. Orthopedic anomaly was detected in 51 (27.4%) patients, nephrological anomaly was found in 47 (25.3%) of the cases, congenital hypothyroidism was diagnosed in 14 (7.5%) patients with NTD. The mortality rate of patients diagnosed with NTD was 7.5%. The rates of premature delivery and consanguinity between parents were higher in patients with NTD.
Our results indicate that at least one congenital anomaly is also present in about two-thirds of newborn babies with NTD, and these anomalies significantly increase their morbidity and mortality. All newborn babies with NTD should be screened for additional congenital anomalies and evaluated with more organized, multidisciplinary methods.
神经管缺陷（NTD）患者常伴有其他先天性异常。我们旨在了解科尼亚地区 NTD 患者的临床特征、短期预后、治疗方法和全身异常。
本研究回顾性纳入 186 例 NTD 新生儿，详细评估其先天性异常和临床特征。
当分析患者的发病月份时，发现最常见的月份是 7 月。186 例患儿中，101 例（54.3%）为脊膜脊髓膨出，53 例（28.5%）为脑膜膨出，13 例（7.0%）为脑膨出，16 例（8.6%）为隐性脊柱裂，4 例（2.1%）为无脑畸形。其中男婴 97 例（52.2%），女婴 89 例（47.8%）。脑积水几乎是所有患儿的常见表现，在 140 例（75.3%）患儿中发现脑积水。51 例（27.4%）患儿存在先天性心脏病（CHD），最常见的 CHD 是房间隔缺损（ASD），占 22.3%。51 例（27.4%）患儿存在骨科异常，47 例（25.3%）患儿存在肾脏异常，14 例（7.5%）患儿诊断为 NTD 合并先天性甲状腺功能减退症。NTD 患儿的死亡率为 7.5%。NTD 患儿早产和父母近亲结婚的比例较高。
我们的结果表明，大约三分之二的 NTD 新生儿还存在至少一种先天性异常，这些异常显著增加了他们的发病率和死亡率。所有 NTD 新生儿都应进行额外的先天性异常筛查，并采用更有组织、多学科的方法进行评估。
