胎儿先天性无鼻畸形一例报告

Congenital arhinia of fetus: a case report

先天性无鼻畸形是一种病因不明、发病机制不清、临床上极其罕见的胎儿畸形,常伴有其他脏器畸形,不同程度地影响围生儿结局。因此,分娩时需要一个熟练的新生儿复苏团队在场。大部分无鼻畸形的胎儿出生后能正常生活。目前,外科手术仍然是无鼻畸形的主要治疗方法,而干细胞治疗则有望成为新的治疗手段。本文报告我院收治的1例胎儿先天性无鼻畸形,并进行相关文献复习。旨在提高对该病的认识,减少漏诊、误诊,为患者及其家庭提供必要的产前咨询及帮助,为新生儿护理、喂养及治疗提出合理的建议。

Congenital arhinia is a fetal malformation with unknown etiology, unclear pathogenesis and extremely rare clinically. It often accompanied by other organ malformations, which affects the outcome of perinatal infants in varying degrees. Therefore, a skilled neonatal resuscitation team is needed during delivery. Most fetuses with arhinia can live normally after birth. At present, surgery is still the main therapeutic method for arhinia, and stem cell therapy is expected to become a new treatment method. This paper reported a case of arhinia of fetus admitted to our hospital, and the relevant literature was reviewed. The purpose of this study is to raise awareness of the disease, reduce missed diagnosis and misdiagnosis, provide necessary prenatal counseling and help for patients and their families, and give sound advice for neonatal care, feeding and treatment.