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出生缺陷(birth defect,BD)也称先天异常,是指由于遗传因素、环境因素或两者共同作用于孕前或孕期,引起胚胎或胎儿在发育过程中发生的解剖学结构和/或功能上的异常[1]。严重缺陷常常引起早期流产、死胎、新生儿或婴幼儿死亡以及存活患儿残疾。据《中国提高出生人口素质、减少出生缺陷和残疾行动计划(2002-2010)》中提出我国每年约有20万～30万肉眼可见先天畸形儿出生,加上出生后数月和数年才显现出来的缺陷,先天残疾儿童总数高达80万～120万,约占每年出生人口总数的4%～6%
Birth defect (BD), also known as congenital anomalies, refers to the anatomical structure and / or function that occurs during development of an embryo or fetus due to genetic factors, environmental factors, or both, before or during pregnancy Abnormal [1]. Serious shortcomings often lead to early miscarriage, stillbirth, neonatal or infant mortality and disability of surviving children. According to “China’s Plan to Improve the Quality of Birth Population and Reduce Birth Defects and Disabilities (2002-2010)”, it is proposed that about 200,000 to 300,000 people with congenital malformations are born naked in our country each year, plus months and years after birth Out of defects, the total number of children with congenital disabilities as high as 80 million to 1.2 million, accounting for about 4% of the total number of births per year to 6%