Pathology & Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Pathology, Immunology and Laboratory Medicine, Rutgers New Jersey Medical School, Newark, NJ, USA.
Fetal Pediatr Pathol. 2021 Oct;40(5):501-504. doi: 10.1080/15513815.2020.1716282. Epub 2020 Jan 27.
Neural tube defects can be as mild as spina bifida, to as severe as anencephaly, with only a fraction of these cases presenting as both craniorachischisis and exencephaly. The G3, P1011 mother was 25-years old, who at an estimated fetal gestational age of 17 weeks had a fetal diagnosis of anencephaly based on a sonogram, resulting in elective pregnancy termination. The female fetus had an open neural tube defect, consisting of craniorachischisis and exencephaly. No abnormalities were noted in any other organs. Although mostly associated with anencephaly, craniorachischisis can also be associated with exencephaly in early pregnancy.
神经管缺陷的严重程度可以从轻到重不等，例如脊柱裂，也可以像无脑畸形一样严重，只有一小部分病例同时表现为颅裂和脑膨出。G3、P1011 母亲年龄为 25 岁，估计胎儿孕龄为 17 周时，根据超声检查诊断为无脑畸形，导致选择性终止妊娠。女性胎儿存在开放性神经管缺陷，包括颅裂和脑膨出。其他器官均未见异常。虽然无脑畸形与颅裂的关系最为密切，但颅裂在妊娠早期也可与脑膨出相关。
