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首页> 外文期刊>Taiwanese journal of obstetrics and gynecology >Prenatal Diagnosis of Iniencephaly
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Prenatal Diagnosis of Iniencephaly

机译：大脑无脑的产前诊断

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摘要

Iniencephaly is characterized by a variable deficit of the occipital bones, resulting in an enlarged foramen magnum; partial or total absence of cervical and thoracic vertebrae with an irregular fusion of those present, accompanied by incomplete closure of the vertebral arches and/or bodies; significant shortening of the spinal column due to marked lordosis and tayperextension of the malformed cervicothoracic spine; and an upward-turned face and mandibular skin directly continuous with that of the chest due to the lack of neck. This article provides a comprehensive review of the reported cases of prenatal ly detected iniencephaly, including prenatal diagnosis, associated malformations, associated chromosomal abnormalities, and differential diagnosis. Prenatal diagnosis of a neural tube defect involving a body defect in the occiput and rachischisis of the cervical and thoracic spine with retroflexion of the head should raise the suspicion of iniencephaly. Iniencephaly may be associated with cranio-rachischisis and other structural anomalies. Prenatal diagnosis of non-isolated iniencephaly and craniorachis-chisis should alert one to the possibility of chromosomal abnormalities and prompt a cytogenetic investigation.
机译：无脑畸形的特点是枕骨变化不定，导致大孔扩大。颈椎和胸椎部分或全部缺失，存在不规则融合，并伴有椎弓和/或身体的不完全闭合;由于畸形的颈胸腰椎明显的脊柱前凸和后伸过度，导致脊柱明显缩短;由于颈部缺乏，上翘的脸和下颌皮肤直接与胸部连续。本文对报道的产前检测到的无脑病病例进行了全面回顾，包括产前诊断，相关的畸形，相关的染色体异常和鉴别诊断。产前诊断神经管缺损，涉及颈和胸椎枕骨和脊柱裂的身体缺损，头部后倾，应引起对无脑症的怀疑。无脑症可能与颅脑干裂和其他结构异常有关。产前诊断非孤立性脑内炎和颅脑炎应提醒人们染色体异常的可能性，并提示进行细胞遗传学检查。

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