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颈肋在死产胎儿中比在活产婴儿中更常见,并且与胎儿非整倍体密切相关。

Cervical ribs are more prevalent in stillborn fetuses than in live-born infants and are strongly associated with fetal aneuploidy.

作者信息

Furtado Larissa V, Thaker Harshwardhan M, Erickson Lance K, Shirts Brian H, Opitz John M

机构信息

Department of Pathology, University of Utah Health Sciences Center, 50 North Medical Drive, Salt Lake City, UT, 84112 USA.

出版信息

Pediatr Dev Pathol. 2011 Nov-Dec;14(6):431-7. doi: 10.2350/11-01-0974-OA.1. Epub 2011 Jun 28.

DOI:10.2350/11-01-0974-OA.1
PMID:21711209
Abstract

This study was undertaken to determine the prevalence of cervical ribs in stillborn fetuses undergoing autopsy at our institution and to search for significant associations with cervical ribs. European studies have reported an increased prevalence of cervical ribs in patients with childhood cancer and in stillborn fetuses. We reviewed data from autopsies performed at Primary Children's Medical Center, Utah, between 2006 and 2009 on 225 stillborns (≥20 weeks) and 93 deceased live-born infants (<1 year). Digital fetal radiographs in anterior-posterior and lateral views had been taken of each subject. Chi-square analysis and general linear models were used for statistical analysis of the data. The overall prevalence of cervical ribs was higher in stillborns than in live-borns who died in the first year (43.1% vs 11.8%). Karyotypes were available for 93 (41.3%) of the stillborns. Of those, cervical ribs were present in 33 of 76 (43.4%) stillborns with normal karyotype and in 13 of 17 (76.4%) stillborns with aneuploidy. Females with unavailable karyotypes were more likely to have cervical ribs than those with normal karyotypes (P  =  0.0002). This greater likelihood was not observed in males. Among the stillborns with normal karyotypes, we found no statistically significant association with gender or gestational age at fetal death. There was also no statistically significant association between congenital anomalies and the presence of cervical ribs. Our findings support the hypothesis that cervical ribs are markers for disadvantageous developmental events occurring during blastogenesis and have been subject to strong negative selection during evolution.

摘要

本研究旨在确定在我们机构接受尸检的死产胎儿中颈肋的患病率,并寻找与颈肋的显著关联。欧洲的研究报告称,儿童癌症患者和死产胎儿中颈肋的患病率有所增加。我们回顾了2006年至2009年在犹他州 Primary Children's Medical Center 对225例死产儿(≥20周)和93例死亡活产儿(<1岁)进行尸检的数据。对每个受试者拍摄了前后位和侧位的数字胎儿X线片。使用卡方分析和一般线性模型对数据进行统计分析。死产儿中颈肋的总体患病率高于出生后第一年死亡的活产儿(43.1%对11.8%)。93例(41.3%)死产儿有核型数据。其中,76例核型正常的死产儿中有33例(43.4%)存在颈肋,17例非整倍体死产儿中有13例(76.4%)存在颈肋。核型数据不可用的女性比核型正常的女性更有可能有颈肋(P = 0.0002)。在男性中未观察到这种更高的可能性。在核型正常的死产儿中,我们未发现与胎儿死亡时的性别或胎龄有统计学上的显著关联。先天性异常与颈肋的存在之间也没有统计学上的显著关联。我们的研究结果支持这样的假设,即颈肋是在胚胎发生过程中发生的不利发育事件的标志物,并且在进化过程中受到了强烈的负选择。

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