Velazquez-Torres Berenice, Pacheco-Ruiz Sandra I, Acevedo-Gallegos Sandra, Lumbreras-Marquez Mario I, Jimenez-Guerra Rolando, Ramirez-Calvo Jose A, Rodriguez-Sibaja Maria J, Amaya-Guel Yubia
Department of Maternal-Fetal Medicine, Instituto Nacional de Perinatologia, Mexico City, Mexico.
Pediatric Neurosurgery, Department of Intermediate Newborn Care, Instituto Nacional de Perinatología, Mexico City, Mexico.
Birth Defects Res. 2025 Feb;117(2):e2455. doi: 10.1002/bdr2.2455.
Neural tube defects (NTDs) are the second most common congenital malformation. Periconceptional, prenatal, and perinatal interventions have been implemented to reduce their incidence and improve those affected's survival and quality of life. The study aims to describe this population's prevalence, interventions performed, clinical management, and perinatal outcomes.
A retrospective review of all prenatally diagnosed neural tube defect cases from January 2018 to April 2024 at a perinatal referral center in Mexico City was conducted.
One hundred seventy-two cases were identified with a prevalence of 9.8/1000 births, including anencephaly (17.26%), myeloschisis (8.63%), myelomeningocele (56.83%), encephalocele (12.94%), meningocele (4.31%) and lipomyelomeningocele (0.71%), with a median gestational age at diagnosis of 28.4 weeks; 39.57% had normal pregestational weight. Maternal characteristics in the sample included epilepsy (4.32%), diabetes (15.83%), history of a child with NTD (1.43%), exposure to teratogens (4.32%), and folic acid intake after 8 weeks gestation (21.58%). Myelomeningocele had a higher survival rate to discharge of 93.40%, as well as associated defects (53.1%), with bilateral clubfoot being the highest (29.1%); Nine patients (6.47%) received palliative care. The median in-hospital length of stay was 21.5 days. Post-surgical complications were reported in 10.9% of patients with myelomeningocele. 25.8% received pediatric rehabilitation assessment, 5.7% presented with neurogenic bladder, and 3rd-level hospitals were the highest referral units.
Managing NTDs involves preconception strategies, prenatal diagnosis, postnatal care, timely surgical interventions, and early pediatric rehabilitation. Likewise, proper referral to complex tertiary care to manage complications and additional morbidity in these cases could improve short- and long-term patient outcomes.
神经管缺陷(NTDs)是第二常见的先天性畸形。已实施围孕期、产前和围产期干预措施以降低其发生率,并改善患者的生存和生活质量。本研究旨在描述该人群的患病率、所实施的干预措施、临床管理及围产期结局。
对墨西哥城一家围产期转诊中心2018年1月至2024年4月期间所有产前诊断为神经管缺陷的病例进行回顾性研究。
共识别出172例病例,患病率为9.8/1000活产,包括无脑儿(17.26%)、脊髓裂(8.63%)、脊髓脊膜膨出(56.83%)、脑膨出(12.94%)、脑膜膨出(4.31%)和脂肪脊髓脊膜膨出(0.71%),诊断时的中位孕周为28.4周;39.57%孕前体重正常。样本中的产妇特征包括癫痫(4.32%)、糖尿病(15.83%)、有神经管缺陷患儿病史(1.43%)、接触致畸物(4.32%)以及妊娠8周后摄入叶酸(21.58%)。脊髓脊膜膨出出院时的存活率较高,为93.40%,且伴有相关缺陷(53.1%),其中双侧马蹄内翻足最为常见(29.1%);9例患者(6.47%)接受了姑息治疗。中位住院天数为21.5天。脊髓脊膜膨出患者中有10.9%报告了术后并发症。25.8%接受了儿科康复评估,5.7%出现神经源性膀胱,三级医院是最高转诊单位。
神经管缺陷的管理涉及孕前策略、产前诊断、产后护理、及时的手术干预和早期儿科康复。同样,将这些病例妥善转诊至复杂的三级医疗机构以管理并发症和其他疾病,可能会改善患者的短期和长期预后。