首页> 外文期刊>Birth defects research, Part A. Clinical and molecular teratology >Issues involved in the phenotypic classification of orofacial clefts ascertained through a state birth defects registry for the north carolina cleft outcomes study
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Issues involved in the phenotypic classification of orofacial clefts ascertained through a state birth defects registry for the north carolina cleft outcomes study

机译:通过北卡罗来纳州c裂结果研究的州出生缺陷登记处确定的口颌裂表型分类所涉及的问题

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Background: Epidemiologic studies involving birth defects are extremely sensitive to phenotype accuracy and precision. We devised a case review and classification protocol for a project to study school achievement in children with idiopathic, nonsyndromic orofacial clefts to improve the reliability of phenotypic classification from the statewide birth defects registry. Methods: Surveillance-program abstraction data and medical records at the birth or treating hospitals were used when available. Exclusion criteria included: median cleft lip; Tessier cleft; premaxillary agenesis; presence of a recognizable syndrome, phenotype, association, or sequence (other than Robin sequence); clefts with other malformations not considered to be normal or common variants in the newborn; and cases with documented or suspected genetic or teratogenic causes. Results: Of 712 children identified with orofacial clefts, 153 were excluded, leaving 559 nonsyndromic orofacial cleft cases of unknown cause in the final study. These cases were grouped into the following clinically meaningful types: cleft lip with or without cleft alveolus; cleft lip and cleft palate; and cleft palate only. This review and classification process resulted in the elimination of 21.5% of the original cohort of identified cases, with most exclusions being due to suspected syndromic associations. Conclusion: Verbatim descriptions of the clinical findings are critical for accurate classification of diagnoses. This review process improved the precision of orofacial cleft phenotype classification for our study. Precision would have been further improved if all of the cases had verbatim descriptions of diagnoses and all medical records could have been reviewed by the classification team. Birth Defects Research (Part A) 103:899-903, 2015. (c) 2015 Wiley Periodicals, Inc.
机译:背景:涉及出生缺陷的流行病学研究对表型的准确性和准确性极为敏感。我们设计了一个案例审查和分类方案,用于研究患有特发性,非综合征性口唇裂的儿童的学校成绩,以提高全州出生缺陷登记表的表型分类的可靠性。方法:尽可能使用出生或治疗医院的监视程序抽象数据和病历。排除标准包括:正中唇裂; Tessier裂;上颌前发育不全存在可识别的综合征,表型,关联或序列(罗宾序列除外);裂口中有其他畸形,在新生儿中不被视为正常或常见变异;以及有记录或怀疑的遗传或致畸原因的病例。结果:在最终研究中,在712名经口颌裂确诊的儿童中,有153名被排除在外,留下了559例原因不明的非综合征性口颌裂病例。这些病例分为以下临床上有意义的类型:唇裂伴有或不伴有肺泡裂;唇裂和c裂;和c裂只。通过审查和分类过程,消除了已鉴定病例的原始队列的21.5%,其中大多数排除是由于疑似症状相关。结论:逐字描述临床发现对准确诊断分类至关重要。这项审查过程提高了我们的研究口面部裂表型分类的准确性。如果所有病例都对诊断进行逐字描述,并且分类小组可以审查所有病历,那么精度将会进一步提高。出生缺陷研究(A部分)103:899-903,2015.(c)2015 Wiley Periodicals,Inc.

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