Perinatal Outcomes in Patients With Neural Tube Defects in a Middle-Income Setting

IF 1.6 4区医学 Q4 DEVELOPMENTAL BIOLOGY

Birth Defects Research Pub Date : 2025-02-19 DOI:10.1002/bdr2.2455

Berenice Velazquez-Torres, Sandra I. Pacheco-Ruiz, Sandra Acevedo-Gallegos, Mario I. Lumbreras-Marquez, Rolando Jimenez-Guerra, Jose A. Ramirez-Calvo, Maria J. Rodriguez-Sibaja, Yubia Amaya-Guel

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Abstract

Background

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.

Methods

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.

Results

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.

Conclusion

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.

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中等收入地区神经管缺陷患者的围产期结局

背景神经管缺陷是第二常见的先天性畸形。实施了围孕期、产前和围产期干预措施，以减少其发生率，改善受影响者的生存和生活质量。该研究旨在描述这一人群的患病率、干预措施、临床管理和围产期结局。方法回顾性分析2018年1月至2024年4月在墨西哥城围产期转诊中心所有产前诊断的神经管缺陷病例。结果共发现172例，患病率为9.8/1000，包括无脑畸形（17.26%）、髓裂（8.63%）、髓脊膜膨出（56.83%）、脑膨出（12.94%）、脑膜膨出（4.31%）、脂质脊膜膨出（0.71%），诊断时中位胎龄28.4周；39.57%的孕妇孕期体重正常。样本中母亲的特征包括癫痫（4.32%）、糖尿病（15.83%）、NTD儿童病史（1.43%）、致畸物暴露（4.32%）和妊娠8周后叶酸摄入（21.58%）。脊髓脊膜膨出的生存率为93.40%，伴有畸形（53.1%），其中双侧内翻足最高（29.1%）；9例患者（6.47%）接受了姑息治疗。住院时间中位数为21.5天。10.9%的脊髓脊膜膨出患者出现术后并发症。接受儿童康复评估的占25.8%，以神经源性膀胱为5.7%，以三级医院为最高转诊单位。结论控制被忽视热带病包括孕前策略、产前诊断、产后护理、及时手术干预和儿童早期康复。同样，在这些病例中，适当转诊到复杂的三级保健以管理并发症和额外发病率可以改善患者的短期和长期预后。

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来源期刊

Birth Defects Research Medicine-Embryology

CiteScore

3.60

自引率

9.50%

发文量

153

期刊介绍： The journal Birth Defects Research publishes original research and reviews in areas related to the etiology of adverse developmental and reproductive outcome. In particular the journal is devoted to the publication of original scientific research that contributes to the understanding of the biology of embryonic development and the prenatal causative factors and mechanisms leading to adverse pregnancy outcomes, namely structural and functional birth defects, pregnancy loss, postnatal functional defects in the human population, and to the identification of prenatal factors and biological mechanisms that reduce these risks. Adverse reproductive and developmental outcomes may have genetic, environmental, nutritional or epigenetic causes. Accordingly, the journal Birth Defects Research takes an integrated, multidisciplinary approach in its organization and publication strategy. The journal Birth Defects Research contains separate sections for clinical and molecular teratology, developmental and reproductive toxicology, and reviews in developmental biology to acknowledge and accommodate the integrative nature of research in this field. Each section has a dedicated editor who is a leader in his/her field and who has full editorial authority in his/her area.