Laterality defects in the national birth defects prevention study (1998-2007): birth prevalence and descriptive epidemiology.
Laterality defects in the national birth defects prevention study (1998-2007): birth prevalence and descriptive epidemiology.
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DOI：
10.1002/ajmg.a.36695
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发表时间：
2014-10
影响因子：
2
通讯作者：
Botto, Lorenzo D.
中科院分区：
文献类型：
--
作者：
Lin, Angela E.;Krikov, Sergey;Riehle-Colarusso, Tiffany;Frias, Jaime L.;Belmont, John;Anderka, Marlene;Geva, Tal;Getz, Kelly D.;Botto, Lorenzo D.
关键词：
关于偏侧性缺陷的流行病学研究知之甚少。利用国家出生缺陷预防研究（NBDPS）的数据，我们分析了1998年至2007年出生的偏侧缺陷儿童的患病率和选定特征。我们确定了517例非综合征病例（378例内脏异位，73.1%; 139例全反位[SIT]，26.9%），估计出生患病率为每10，000例活产1.1例（95%置信区间1.0-1.2）。患病率在不同研究中心、不同时间或是否包括妊娠终止方面没有显著差异。偏侧性缺陷在早产儿中比足月儿更常见，在非白色或20岁以下母亲所生儿童中比白色或25-29岁母亲所生儿童中更常见。相关心脏和心外缺损的分布（不包括预期的异位畸形）因偏侧缺损类型而异。与SIT相比，异位症患者更容易出现右心室双出口、房室管缺损、肺动脉狭窄、非法洛四联症肺动脉闭锁伴室间隔缺损、完全和部分肺静脉回流异常;也更容易出现口面裂、食管闭锁、肠闭锁和脐膨出，但未达到统计学意义。SIT病例中相对更常见的是Dandy-Walker畸形、无耳/小耳和肢体缺陷。异位和SIT的人口统计学特征的相似性支持了这一假设，即它们是异常左右轴模式的连续体的一部分。这些关于偏侧性缺陷的发现可能有助于指导临床护理，未来的研究和预防策略。
Little is known epidemiologically about laterality defects. Using data from the National Birth Defects Prevention Study (NBDPS), a large multi-site case-control study of birth defects, we analyzed prevalence and selected characteristics in children born with laterality defects born from 1998 to 2007. We identified 517 nonsyndromic cases (378 heterotaxy, 73.1%; 139 situs inversus totalis [SIT], 26.9%) resulting in an estimated birth prevalence of 1.1 per 10,000 live births (95% confidence interval 1.0–1.2). Prevalence did not differ significantly across sites, over time, or by inclusion of pregnancy termination. Laterality defects were more common among preterm cases compared to term cases, and in children born to mothers who were non-white or younger than 20 years compared to white mothers or those age 25–29 years. The distribution of associated cardiac and extracardiac defects, excluding the expected heterotaxy anomalies, varied by type of laterality defect. Cases with heterotaxy were significantly more likely than those with SIT to have double outlet right ventricle, atrioventricular canal defects, pulmonary stenosis, non-tetralogy of Fallot pulmonary atresia with ventricular septal defect, totally and partially anomalous pulmonary venous return; also more likely to have orofacial clefts, esophageal atresia, bowel atresias, and omphalocele, though not reaching statistical significance. Relatively more common among cases with SIT were Dandy-Walker malformation, anotia/microtia, and limb deficiency. The similarity in the demographic characteristics of heterotaxy and SIT supports the hypothesis that they are part of a continuum of abnormal left-right axis patterning. These findings on laterality defects may help guide clinical care, future research, and prevention strategies.
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DOI：
10.1002/bdra.23007
发表时间：
2012-06-01
影响因子：
--
作者：
Bedard, Tanya;Lowry, R. Brian;Dyck, John D.
通讯作者：
Dyck, John D.
影响因子：
5.3
作者：
Iida, A;Emi, M;Nakamura, Y
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Nakamura, Y
DOI：
10.1002/bdra.23218
发表时间：
2014-02
影响因子：
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作者：
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通讯作者：
Fleming, Kate M.
影响因子：
5
作者：
Cogswell, Mary E.;Bitsko, Rebecca H.;Reefhuis, Jennita
通讯作者：
Reefhuis, Jennita
影响因子：
30.8
作者：
Gebbia, M;Ferrero, GB;Casey, B
通讯作者：
Casey, B