Genetic epidemiology of birth defects: Nonsyndromic cleft lip and neural tube defects
Genetic epidemiology of birth defects: Nonsyndromic cleft lip and neural tube defects
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DOI：
10.1093/oxfordjournals.epirev.a017947
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发表时间：
1997-01-01
影响因子：
5.5
通讯作者：
Mitchell, LE
中科院分区：
文献类型：
--
作者：
Mitchell, LE
出生缺陷被《畸形儿》定义为任何结构或功能的异常，无论是遗传的还是在产前或围产期获得的，也无论它是在子宫内、出生时还是以后的生活中表现出来的(1)。这一宽泛的定义包括一般不被认为是出生缺陷的成人发病遗传性疾病。然而，即使限于出生时或出生后不久出现的异常，出生缺陷的定义也包含了数量惊人的条件和多种病因机制。出生缺陷目前是婴儿死亡的主要原因，也是美国和其他发达国家儿童残疾的重要来源(2)。已知的出生缺陷原因包括单基因疾病（如范德伍德综合征）、染色体异常（如21三体病）和环境暴露（如酒精）。然而，多达三分之二的出生缺陷的致病因素尚未确定(3)。出生缺陷亚群的病因大部分未知，包括许多结构性畸形，如口面裂、神经管缺陷和心脏畸形。这些畸形通常被称为非综合征，以便将它们与作为公认的畸形综合征的一部分出现的表型相同的情况（例如，13三体、Van der Woude综合征、心动面部综合征）区分开来。虽然它们显然不是以简单的孟德尔方式遗传的，但许多非综合征性结构畸形倾向于在家族内聚集。因此，遗传因素被认为与其病因有关。本文综述了非综合征性结构畸形的遗传流行病学。分别,
Birth defects have been defined by the March of Dimes as any abnormality of structure or function, whether inherited or acquired during the prenatal or perinatal period, and whether it presents itself in utero, at birth, or later in life (1). This broad definition includes inherited diseases with adult onset that are not generally considered to be birth defects. However, even when limited to abnormalities that are present at or shortly after birth, the definition of a birth defect encompasses a staggering number of conditions and a multitude of etiologic mechanisms. Birth defects are currently the leading cause of infant mortality and represent a significant source of childhood disability in the United States and other developed countries (2). Known causes of birth defects include single gene disorders (eg, van der Woude syndrome) chromosome abnormalities (eg, trisomy 21) and environmental exposures (eg, alcohol). However, causative factors have not been identified for as many as two-thirds of all birth defects (3). The subgroup of birth defects with largely unknown etiologies includes many structural malformations, such as orofacial clefts, neural tube defects, and cardiac malformations. These malformations are generally referred to as being nonsyndromic in order to differentiate them from phenotypically identical conditions which occur as part of recognized malformation syndromes (eg, trisomy 13, Van der Woude syndrome, velocardiofacial syndrome). Although they are clearly not inherited in a simple Mendelian fashion, many of the nonsyndromic structural malformations tend to aggregate within families. Hence, genetic factors are thought to be involved in their etiology. This review focuses on the genetic epidemiology of nonsyndromic structural malformations. Individually,