耳廓轻度形态发生错误:流行病学分析、局部相关性及临床意义

David Bader , Marta Grun , Shlomit Riskin-Mashiah , Andrei Grunfeld , Amir Kogelman , Irena Chistyakov , Paul Merlob
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引用次数: 9

摘要

背景。-轻度错误或形态发生(MEMs)是众所周知和公认的胚胎发育改变的标记,在识别主要畸形,特定遗传综合征,代谢和精神疾病以及儿童恶性肿瘤方面具有预测价值。本研究的目的是评估耳部MEMs作为整体MEMs的一部分的贡献,以研究影响不同类型MEMs不同潜在信息价值的因素及其与围产期因素的差异。-连续对3307例伴有重大畸形和体位缺陷的新生儿进行耳部和非耳部MEMs筛查。这项研究是通过我们特别设计的计算机程序在以色列海法大都会区一个相对较大的非同质民族人口中完成的。-耳部MEMs的总患病率为43.1%;最常见的发病类型为体位性。男性、小胎龄和大胎龄、IVF妊娠、三胞胎妊娠、母亲糖尿病和父母有血缘关系与耳廓MEMs发生率显著升高有关。我们的结论是,同一新生儿耳廓MEMs的存在、数量、关联或伴随可能具有重要的临床、诊断、发病、筛查和治疗价值。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Auricular mild errors of morphogenesis: epidemiological analysis, local correlations and clinical significance

Background. – The mild errors or morphogenesis (MEMs) are well known and accepted markers of alterations in embryonic development with predictive value in identification of major malformations, specific genetic syndromes, metabolic and psychiatric disease and childhood malignancy.

Objective. – The goal of this study was to assess the contribution of auricular MEMs as part of total MEMs in an effort to study the factors influencing the different potential informative value of different types of MEMs and their variability with perinatal factors.

Method. – Three thousand one hundred and seven consecutive born neonates were screened for auricular and non-auricular MEMs, inregistered concomitantly with major malformations and postural defects. The study was accomplished by our specially designed computerized program in a relatively large nonhomogeneous ethnic population, in the metropolitan area of Haifa, Israel.

Results. – The general prevalence of auricular MEMs was 43.1%; the most frequent pathogenetic type was the postural one. Significantly higher rates of auricular MEMs were associated with male sex, small- and large-for-gestational age, IVF pregnancy, triplet pregnancy, maternal diabetes and parental consanguinity.

Conclusion. – We conclude that the presence, number, and association or concomitance of auricular MEMs in the same neonate may have important clinical, diagnostic, pathogenetic, screening, and therapeutic value.

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