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三维成像在胎儿头颅畸形产前诊断中的进展。

Advances in prenatal diagnosis of fetal otocephaly by 3D imaging.

机构信息

Obstetrics, Kantonsspital, Sankt Gallen, SG, Switzerland

Obstetrics, Kantonsspital, Sankt Gallen, SG, Switzerland.

出版信息

BMJ Case Rep. 2022 Apr 22;15(4):e249276. doi: 10.1136/bcr-2022-249276.

Abstract

The case presented here shows the rare diagnosis of fetal otocephaly with lethal prognosis due to impossible airway management after birth. Otocephaly is characterised by fetal agnathia, microstomia and synotia. As in our case, otocephaly is usually not recognised until the third trimester and leads to challenging clinical situations and decision making.A woman in her 30s presented to our tertiary hospital at 27 weeks of gestation because of an unexplained polyhydramnios. 3D imaging illustrated the complex syndrome of otocephaly and helped understand the present disease patterns. After premature birth, palliative care was agreed on and the newborn was able to pass away peacefully in the arms of his parents.We recommend the implementation of 3D imaging into routine scans for the assessment of the fetal face and ears, especially in situations of unexplained polyhydramnios.

摘要

这里呈现的病例罕见,因胎儿无下颌畸形导致出生后气道管理不可能,故预后极差。无下颌畸形的特点为胎儿无下颌、小口畸形和并唇。像我们的病例一样,无下颌畸形通常要到孕晚期才被识别,导致具有挑战性的临床情况和决策。一位 30 多岁的女性因不明原因的羊水过多在 27 周时到我们的三级医院就诊。3D 成像说明了复杂的无下颌畸形综合征,并有助于了解当前的疾病模式。早产分娩后,我们同意进行姑息治疗,新生儿能够在父母的怀抱中平静地离世。我们建议将 3D 成像纳入常规扫描,以评估胎儿的面部和耳朵,特别是在不明原因羊水过多的情况下。

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