Department of Gynecology and Obstetrics, Centro Hospitalar do Médio Ave EPE, Santo Tirso, Portugal.
Department of Gynecology and Obstetrics, Centro Hospitalar do Médio Ave EPE, Santo Tirso, Portugal
BMJ Case Rep. 2022 Apr 25;15(4):e244682. doi: 10.1136/bcr-2021-244682.
Craniorachischisis totalis (anencephaly with total open spina bifida) is the most severe form of neural tube defects. The exact aetiology of neural tube defects remains poorly understood. We report a case of a primigravida in her 20s with a fetus in which craniorachischisis totalis was diagnosed during the first-trimester ultrasound at 11 weeks of gestation. The parents opted for pregnancy termination and the diagnosis was confirmed postnatally. Besides the lack of folic acid supplementation during preconception, no other risk factor was found. This case highlights the importance of the first-trimester ultrasound in the diagnosis of severe malformations. The right diagnosis is crucial for future prenatal counselling, yet investigation is still required to better understand the aetiology behind neural tube defects and assess the possibility of underlying genetic features, thus enabling better counselling.
颅脊柱裂（无脑畸形伴完全开放性脊柱裂）是神经管缺陷中最严重的一种。神经管缺陷的确切病因仍知之甚少。我们报告了一例 20 多岁的初产妇，其胎儿在妊娠 11 周的早孕期超声检查中被诊断为颅脊柱裂。父母选择终止妊娠，该诊断在产后得到证实。除了在受孕前缺乏叶酸补充外，未发现其他危险因素。本例强调了早孕期超声在严重畸形诊断中的重要性。正确的诊断对于未来的产前咨询至关重要，但仍需要进一步研究以更好地了解神经管缺陷背后的病因，并评估潜在遗传特征的可能性，从而提供更好的咨询。
