Associated Anomalies Among Infants With Oral Clefts at Birth and During a 1-year Follow-Up
Associated Anomalies Among Infants With Oral Clefts at Birth and During a 1-year Follow-Up
复制标题
DOI：
10.1002/ajmg.a.34046
复制
发表时间：
2011-07-01
影响因子：
2
通讯作者：
Castilla, Eduardo E.
中科院分区：
文献类型：
--
作者：
Rittler, Monica;Cosentino, Viviana;Castilla, Eduardo E.
出生缺陷率的报告可能集中在新生儿期观察到的缺陷，或包括在较年长的年龄诊断出的缺陷。然而，关于出生后检测到的额外异常的比率或诊断这种异常的年龄的信息很少。这项工作的目的是描述在ECLAMC网络的医院中确诊的新生儿中孤立的或与其他缺陷相关的口裂的初步诊断，以及在一年的随访期内由于发现其他缺陷而发生的诊断变化。在2003至2005年间，共确诊710例唇裂(CLO)、唇裂伴腭裂(CLP)或腭裂(CP)活产儿。建立了孤立性及相关(ASO)唇裂的患病率估计、婴儿伴发唇裂的诊断以及重新分类为伴发的孤立性唇裂的百分比。出生患病率估算如下：总和：1.7；CLP：0.94(ASO=23.5%)；CP：0.46(ASO=42.3%)；CLO：0.28(ASO=7.6%)。合并畸形的婴儿的初步诊断包括38例染色体异常，33例非染色体综合征，16例畸形序列，98例原因不明的多发性异常。7%的新生儿最初被归类为孤立新生儿，后来被重新归类为关联新生儿。10名没有相关缺陷或临床可疑症状的婴儿仅通过实验室结果或家族史被诊断为综合征，这说明了相关术语与孤立术语之间的差异，即存在或不存在相关异常，以及综合征与非综合征术语之间的差异，后者指病因学。(C)2011年Wiley-Liss，Inc.
Reports of birth defects rates may focus on defects observed in the newborn period or include defects diagnosed at older ages. However, little information is available on the rates of additional anomalies detected after birth or on the ages at which such anomalies are diagnosed. The aims of this work were to describe the initial diagnoses of oral clefts, isolated or associated with other defects, in newborn infants ascertained in hospitals of the ECLAMC network, and diagnostic changes that occurred due to detection of additional defects during a 1-year follow-up period. Seven hundred ten liveborn infants with cleft lip only (CLO), cleft lip with cleft palate (CLP), or cleft palate (CP) were ascertained between 2003 and 2005. Prevalence estimates of isolated and associated (ASO) clefts, diagnoses in infants with associated clefts, and the percentage of isolated clefts that were reclassified as associated were established. Birth prevalence estimates (per 1,000) were as follows: Total: 1.7; CLP: 0.94 (ASO = 23.5%); CP: 0.46 (ASO = 42.3%); CLO: 0.28 (ASO = 7.6%). Initial diagnoses in infants with associated clefts included 38 infants with chromosomal abnormalities, 33 with non-chromosomal syndromes, 16 with malformation sequences, and 98 with multiple anomalies of unknown etiology. Seven percent of newborns initially classified as isolated were later reclassified as associated. Ten infants without associated defects or clinically suspected syndromes were diagnosed as syndromic only through laboratory findings or family history, illustrating the difference between the terms associated versus isolated, which refers to presence or absence of associated anomalies, and syndromic versus non-syndromic, which refers to etiology. (C) 2011 Wiley-Liss, Inc.