Birth defects are structural, functional or metabolic abnormalities that exist before birth and can be detected at birth or within a few years after birth. Birth defects can be caused by abnormal factors such as chromosomal aberrations, genetic mutations, or environmental factors, or by the interaction of genetic and environmental factors or other unknown causes. Severe birth defects and genetic disorders are diseases that severely affect an individual’s ability to survive, function, and cause disability, inability to care for oneself, or death early in life. Types of birth defects include three broad categories: i. Congenital malformations, i.e. structural abnormalities on the body surface or in the body of the infant, such as neural tube defects, pre-cardiac malformations, cleft lip and palate, etc., which can be detected visually or by examination at birth. Second, functional, metabolic, behavioral abnormalities, such as intellectual disability, hemophilia, genetic metabolic diseases, etc., which can be diagnosed only after several months or years of onset after birth and require special detection means. Third, low birth weight, stillbirths and spontaneous abortions also belong to the category of birth defects in the broad sense. China is a country with a high incidence of birth defects, it is estimated that the current incidence of birth defects in our country is about 5.6%, the number of new birth defects each year about 900,000 cases, of which about 250,000 cases of birth defects are clinically evident at birth. Birth defects are a major cause of early miscarriage, stillbirth, perinatal death, infant and child death and congenital disability.