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有或没有相关发现的婴儿阴囊综合征的遗传检测

Kara M Cavuoto¹, Gil Binenbaum², Melinda Y Chang³

¹Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, Florida.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus

|September 17, 2023

概括

基因检测有助于诊断婴儿宫综合征 (INS). 将遗传分析与临床数据相结合,可以提高诊断产量,潜在地重新分类诊断并确定可治疗的疾病.

科学领域:

眼科医生眼科眼科
遗传学是一个遗传学.
儿科儿科儿科

背景情况:

婴儿阴囊症候群 (INS) 呈现为早期发病,不自发的眼动.
准确的诊断对于管理和识别潜在原因至关重要.

研究的目的:

评估基因测试对婴儿阴囊综合征 (INS) 的临床实用性.
审查已发表的关于基因测试在诊断INS中的作用的文献.

主要方法:

对INS遗传检测研究的系统文献综述.
包括使用下一代测序基因面板的4项研究.
诊断率的分析和对诊断的影响.

主要成果:

基因检测的诊断率在35%至60%之间.
随着临床表型化,产量增加到80%左右,随着家族病史,产量增加到88%.
基因检测导致多达30%的患者的诊断重新分类.

结论:

基因检测为INS提供了明确的诊断.
它可以在患有阴囊的婴儿中识别可治疗的疾病.
与临床表型和家族史的整合提高了诊断准确度.

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