Belcher Ryan, Virgin Frank, Duis Jessica, Wootten Christopher
Division of Pediatric Otolaryngology, Vanderbilt Department of Otolaryngology - Head and Neck Surgery, Monroe Carell Jr. Children's Hospital, Nashville, TN, United States.
Front Pediatr. 2021 Mar 22;9:536730. doi: 10.3389/fped.2021.536730. eCollection 2021.
Hearing loss is one of the most common concerns for presentation for a geneticist. Presentation prior to the age of one (congenital hearing loss), profound sensorineural hearing loss (SNHL), and bilateral hearing loss are sensitive and should raise concern for genetic causes of hearing loss and prompt referral for genetic testing. Genetic testing particularly in this instance offers the opportunity for anticipatory guidance including possible course of the hearing loss over time and also connection and evaluation for additional congenital anomalies that may be associated with an underlying syndrome vs. isolated genetic hearing loss.
听力损失是遗传学家会诊时最常见的问题之一。一岁前出现症状（先天性听力损失）、重度感音神经性听力损失（SNHL）和双侧听力损失都很敏感，应引起对听力损失遗传原因的关注，并促使转诊进行基因检测。在这种情况下，基因检测尤其提供了进行前瞻性指导的机会，包括听力损失随时间推移可能的发展过程，以及对可能与潜在综合征相关的其他先天性异常进行关联和评估，以区分是综合征性还是孤立性遗传性听力损失。
