Newborn hearing screening is not designed to detect delayed-onset prelingual hearing loss or aminoglycoside-antibiotic-induced ototoxicity. Cases with severe to profound hearing loss have been reported to have been missed by newborn hearing screens. The aim of this study was to evaluate the efficacy of concurrent hearing and genetic screening in the general population and demonstrate its benefits in practice. Enrolled newborns received concurrent hearing and genetic screens between September 1, 2015 and January 31, 2018. Of the 239,636 eligible infants (median age, 19 months), 548 (0.23%) had prelingual hearing loss. Genetic screening identified 14 hearing loss patients with positive genotypes and 27 patients with inconclusive genotypes who had passed the hearing screens. In addition, the genetic screen identified 0.23% (570/239,636) of the newborns and their family members as at-risk for ototoxicity, which is undetectable by hearing screens. In conclusion, genetic screening complements newborn hearing screening by improving the detection of infants at risk of hereditary hearing loss and ototoxicity, and by informing genotype-based clinical management for affected infants and their family members. Our findings suggest that the practice should be further validated in other populations and rigorous cost-effectiveness analyses are warranted.

中文翻译：

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普通新生儿同时进行听力和基因筛查。

新生儿听力筛查并非旨在检测延迟发作的舌前听力丧失或氨基糖甙类抗生素引起的耳毒性。据报道，新生儿听力筛查漏掉了重度至重度听力损失的病例。这项研究的目的是评估一般人群同时进行听力和基因筛查的功效，并证明其在实践中的益处。入选的新生儿在2015年9月1日至2018年1月31日之间接受了同时的听力和基因筛查。在239,636名合格婴儿（中位年龄为19个月）中，有548名（0.23％）患有舌前听力丧失。遗传筛查确定了通过听力筛查的14名基因型为阳性的听力损失患者和27例基因型不确定的患者。此外，遗传筛查确定为0.23％（570/239，636）的新生儿及其家庭成员存在耳毒性危险，听力筛查无法发现这种毒性。总之，基因筛查通过改善对具有遗传性听力损失和耳毒性风险的婴儿的检测，并告知受影响的婴儿及其家庭成员基于基因型的临床管理，可以补充新生儿听力筛查。我们的发现表明，该实践应在其他人群中得到进一步验证，并且必须进行严格的成本效益分析。并告知受影响的婴儿及其家庭成员基于基因型的临床管理。我们的发现表明，该实践应在其他人群中得到进一步验证，并且必须进行严格的成本效益分析。并告知受影响的婴儿及其家庭成员基于基因型的临床管理。我们的发现表明，该实践应在其他人群中得到进一步验证，并且必须进行严格的成本效益分析。