胎儿鼻泪管囊肿合并先天性耳聋的偶发病例 一例

An Incidental Case of Fetal Nasolacrimal Duct Cyst Combined with Congenital Deafness

摘要: 本病例报告了一名36岁女性患者，因“双侧输卵管堵塞”接受冻胚移植怀孕，孕期检查未见明显异常。停经31周时，产检发现胎儿左侧鼻泪管囊肿，后经羊水穿刺检测发现胎儿有GJB2基因突变，提示可能存在遗传性耳聋。分娩后，胎儿被诊断为双耳轻度感音神经性听力缺失。先天性鼻泪管囊肿通常预后良好，可在出生后自愈，而GJB2基因突变引起的耳聋在遗传性听力障碍中较为常见。患者在孕期并发肺部感染、下肢丹毒及上呼吸道感染，经过适当治疗，胎儿和母亲均顺利度过妊娠晚期。本病例强调了孕期综合管理的重要性，特别是针对具有耳聋家族史的孕妇应加强产前筛查和新生儿听力评估，以便早期发现和干预听力障碍，确保母婴安全。

Abstract: This case report presents a 36-year-old female patient who became pregnant through frozen embryo transfer due to “bilateral fallopian tube obstruction”. Prenatal examinations showed no significant abnormalities. At 31 weeks of gestation, an ultrasound revealed a cystic mass in the left side of the fetus’s nasolacrimal duct, and subsequent amniocentesis detected a GJB2 gene mutation, suggesting a potential genetic cause of congenital hearing loss. After delivery, the newborn was diagnosed with bilateral mild sensorineural hearing loss. Congenital nasolacrimal duct cysts generally have a good prognosis and often resolve spontaneously after birth. In contrast, hearing loss caused by GJB2 gene mutations is common among genetic hearing impairments. The patient experienced complications during pregnancy, including pulmonary infection, lower limb erysipelas, and upper respiratory infection, but with appropriate treatment, both the mother and fetus successfully navigated the late stages of pregnancy. This case highlights the importance of comprehensive prenatal management, especially for pregnant women with a family history of hearing loss. It emphasizes the need for enhanced prenatal screening and early newborn hearing assessments to detect and intervene in hearing disorders early, ensuring maternal and fetal safety.