新生儿普遍筛查背景下先天性耳聋的主要风险因素:我们在四年回顾性研究中的观察。

IF 4 Q1 GENETICS & HEREDITY
Antoine Paul, Fanny Bense, Claire Boithias Guerot, Sofia De La Rubia, Cécile Lebeaux, Jean-François Papon
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引用次数: 0

摘要

事实证明,新生儿听力普查(UHNS)能有效地对耳聋进行早期诊断和康复治疗。儿童耳聋的风险因素已被确定,但对于那些在新生儿听力筛查后被确诊的儿童而言,这些风险因素却不那么明确。在本研究中,我们旨在研究筛查后转诊婴儿的这些因素,并将我们的经验与最新数据进行比较。我们研究了 2018 年 1 月至 2021 年 12 月间筛查后转诊到我科进行诊断的婴儿。我们评估了他们的病史和新生儿听力风险因素。我们还分析了各因素之间的关联。共纳入 66 名婴儿。耳聋家族史(47%)、综合征性耳聋(41%)、宫内发育迟缓或早产(19.7%)和长期入住新生儿重症监护室(18%)是观察到的最多因素。根据这些关联进行分析,耳聋家族史和综合征病例仍然是最常见的因素(74%),而只有 5 例病例(7.8%)仅有其他新生儿风险因素。大多数先天性听力损失病例都发生在疑似遗传性耳聋的婴儿身上。应根据这些风险因素调整家长咨询、诊断途径和医疗保健系统。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Leading Risk Factors for Congenital Deafness in the Context of Universal Neonatal Screening: Our Observations in a Four-Year Retrospective Study.

It has been demonstrated that universal hearing neonatal screening (UHNS) is efficient at providing early diagnosis and rehabilitation for deafness. The risk factors of deafness in children have been identified, but less specifically in those diagnosed after UHNS. In this study, we aim to study these factors in infants who were referred after screening and to compare our experience to recent data. We studied infants referred to our department for diagnosis after screening between January 2018 and December 2021. Their medical history and neonatal hearing risk factors were assessed. Associations between factors were also analyzed. Sixty-six infants were included. A family history of deafness (47%), syndromic deafness (41%), intrauterine growth retardation or prematurity (19.7%), and prolonged NICU admission (18%) were the most observed factors. When analyzing according to these associations, family history of deafness and syndromic cases remained the most prevalent factors (74%), while only five cases (7.8%) presented with other neonatal risk factors only. The majority of congenital hearing loss cases are observed in infants with suspected genetic deafness. Parental counseling, the diagnostic pathway, as well as the healthcare system should be adapted according to these risk factors.

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来源期刊
International Journal of Neonatal Screening
International Journal of Neonatal Screening Medicine-Pediatrics, Perinatology and Child Health
CiteScore
6.70
自引率
20.00%
发文量
56
审稿时长
11 weeks
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