Prevention Control Of Birth Defects

China is a country with a high incidence of birth defects, with approximately 900,000 newborns having birth defects each year. Birth defects refer to abnormal physical structure, function or metabolism that occur in an infant before birth. Birth defects can be caused by genetic factors such as chromosomal aberrations and gene mutations, or environmental factors, or by the interaction of these two factors or other unknown causes.

At present, China adopts a three-level prevention strategy for the prevention and control of birth defects.

Primary prevention is an active, proactive, effective and economical preventive measure, which is of great significance.

Studies have shown that in individuals with the homozygous mutant genotype of MTHFR C677T, the activity of this enzyme is reduced. High levels of homocysteine in the blood can interfere with neural tube closure, subsequently leading to neural tube defects. High levels of homocysteine can also affect the early cardiovascular development of the embryo. Congenital heart disease is a disease caused by abnormal development of the cardiovascular system during the organ formation period. Supplementing folic acid can significantly alleviate the developmental toxicity of homocysteine on the cardiovascular system and reduce the risk of congenital heart disease. At the same time, the defect of the MTHFR C677T gene leads to the metabolic disorder of folic acid, causing methylation and resulting in chromosomal non-separation, which may be a risk factor for Down syndrome.