Etiological investigation of deafness in neonates screened in a universal newborn hearing screening program

Purpose to describe the results of etiology of deaf in neonates screened in a universal newborn hearing screening program. Methods a descriptive, cross-sectional and prospective study. The study included all newborns diagnosed with hearing loss identified in a universal newborn hearing screening program from August 2003 to December 2006. The etiology of deaf was determined after detailed anamnesis performed by the otorhinolaryngologist; survey of serological tests for toxoplasmosis, rubella, cytomegalovirus, herpes, syphilis and HIV; tomography of the temporal bone and genetic tests. Results 17 neonates were diagnosed with hearing loss in the period studied. 64.7% of cases presented as probable causes prenatal etiology, 29.4% perinatal causes and one child (5.9%) had unknown etiology. Of prenatal causes, 36.4% had confirmed genetic origin and 36.4% presumed etiology of heredity. We confirmed the presence of congenital infections in 18.2% of cases and one child (9%) had craniofacial anomalies as a possible etiology. The degree of hearing loss more frequently observed in the subjects studied was the profound (47.1%). Conclusion the increased occurrence of etiologies in this study was of prenatal origin, followed by perinatal origin.

研究目的：阐述新生儿普遍听力筛查（universal newborn hearing screening）项目中筛查确诊的新生儿听力损失的病因学分析结果。
研究方法：本研究为描述性、横断面前瞻性研究。研究纳入2003年8月至2006年12月期间，在新生儿普遍听力筛查项目中确诊为听力损失的全部新生儿。本研究通过耳鼻喉科医师（otorhinolaryngologist）详细采集病史、开展弓形虫、风疹病毒、巨细胞病毒、单纯疱疹病毒、梅毒螺旋体及人类免疫缺陷病毒（HIV）血清学检测、颞骨断层扫描（tomography of the temporal bone）以及遗传学检测，以明确患儿听力损失的病因。
研究结果：本研究周期内共确诊17例新生儿听力损失病例。其中64.7%的病例病因考虑为产前源性，29.4%为围产期源性，仅1例患儿（5.9%）病因不明。在产前源性病因中，36.4%的病例经证实为遗传起源，另有36.4%推测为遗传性病因；本研究证实18.2%的病例存在先天性感染，另有1例患儿（9%）以颅面畸形作为潜在病因。本研究纳入对象中最常见的听力损失分级为极重度（47.1%）。
研究结论：本研究中最常见的新生儿听力损失病因为产前源性，其次为围产期源性。