Oliveira Camila Ive Ferreira, Fett-Conte Agnes Cristina
Department of Biology, Institute of Biosciences, Letters and Science (IBILCE), Paulista State University "Júlio de Mesquita Filho", São José do Rio Preto, SP, Brazil.
Department of Molecular Biology, Medicine School of São José do Rio Preto, São José do Rio Preto, SP, Brazil.
J Pediatr Genet. 2013 Jun;2(2):85-90. doi: 10.3233/PGE-13052.
Birth defects (BDs) or congenital anomalies include all structural and functional alterations in embryonic or fetal development resulting from genetic, environmental or unknown causes, which result in physical and/or mental impairment. BDs occur in about 3% of newborn babies and in most cases of pregnancy loss. BDs are a very complex and heterogeneous group of single or multiple changes that, in most cases, are of unknown etiology. Among the risk factors are advanced maternal and paternal ages, parental consanguinity, teratogenic agents such as infectious agents and drugs, and poor nutrition, in particular folic acid deficiency. One of the consequences of these defects is the high death rate within the first year of life. Information on BDs is becoming increasingly more important throughout the world so that preventive measures can be taken. Knowledge of BDs enables the development of therapeutic and preventive strategies besides adequate genetic counseling.
出生缺陷(BDs)或先天性异常包括胚胎或胎儿发育过程中由遗传、环境或不明原因导致的所有结构和功能改变,这些改变会导致身体和/或智力损伤。出生缺陷发生在约3%的新生儿中,并且在大多数流产病例中也存在。出生缺陷是一组非常复杂且异质性的单发性或多发性改变,在大多数情况下,其病因不明。风险因素包括孕产妇和父亲年龄偏大、父母近亲结婚、致畸因素如感染因子和药物,以及营养不良,尤其是叶酸缺乏。这些缺陷的后果之一是一岁内的高死亡率。在全世界,有关出生缺陷的信息变得越来越重要,以便能够采取预防措施。除了进行充分的遗传咨询外,对出生缺陷的了解有助于制定治疗和预防策略。