China Birth Defect Prevention Day丨Prevent birth defects and give your children “free love”

September 12, 2022 is the 18th "China Birth Defect Prevention Day". The theme of this year's event is "Preventing and controlling birth defects and promoting reproductive health."

The "China Birth Defect Prevention and Control Report" defines "birth defect" as a general term for abnormalities in body structure, function or metabolism that occur before the baby is born, usually including congenital malformations, chromosomal abnormalities, genetic metabolic diseases, and functional abnormalities such as blindness, deafness and intellectual disability.

According to the National Birth Defect Comprehensive Prevention and Control Program, there are many types of birth defects with complex causes. Currently, there are more than 8,000 known birth defects. my country is one of the countries with the highest incidence of birth defects in the world, with 800,000 to 1.2 million children born with birth defects each year, or about one child born every 30 seconds. Birth defects have become the leading cause of infant death.

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What are birth defects?

"Birth defects", commonly known as "congenital malformations", refer to abnormalities in body structure, function or metabolism that occur before a baby is born. 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. They usually include congenital malformations, chromosomal abnormalities, genetic metabolic diseases, and functional abnormalities (such as blindness, deafness, and intellectual disabilities).

Several factors that may lead to birth defects

1. Genetic factors. Abnormal gene inheritance from parents or germ cell mutations may cause birth defects. These include diseases caused by gene mutations, abnormal chromosome number and structure.

2. Maternal nutritional factors. Nutritional imbalance during pregnancy can increase the risk of birth defects and affect the development of various organ systems in the fetus. For example, folic acid deficiency during pregnancy is a high-risk factor for neural tube defects, and iodine deficiency during pregnancy is a high-risk factor for intellectual development disorders in children.

3. Parental factors. Bad lifestyle behaviors (smoking, alcoholism, drug abuse, etc.), exposure (to pathogens such as rubella virus, cytomegalovirus, toxoplasmosis, etc.), pregnancy diseases (gestational diabetes, etc.), irrational use of drugs (psychotropic drugs, hormones), exposure to toxins (formaldehyde, lead, mercury, etc.) and radioactive substances can significantly increase the risk of birth defects.

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Can healthy parents give birth to children with genetic diseases?

Yes, these genetic diseases are usually single-gene genetic diseases. Single-gene genetic diseases refer to genetic diseases caused by a single pathogenic gene mutation. Currently, the OMIM database shows that there are more than 9,000 single-gene diseases. A single disease is rare, but the combined incidence rate is about 1%.

Xu Zhengfeng, deputy director of Nanjing Maternal and Child Health Hospital, introduced that among birth defects, the proportion of single gene diseases is as high as 22.2%. Single gene diseases can cause death, malformation, and disability. There is a lack of effective treatment or the cost of treatment is high. Common single gene genetic diseases include spinal muscular atrophy (SMA), deafness, Duchenne muscular dystrophy (DMD), hemophilia, etc.

Studies have shown that the average normal person carries 2.8 pathogenic gene variants of recessive genetic diseases. These variants do not cause symptoms in the carriers, but if a couple carries the same pathogenic gene variant of a recessive genetic disease on an autosome, there is a 1/4 chance that they will pass on their respective pathogenic variants to their offspring when they give birth, causing the offspring to become ill. If the female carries the pathogenic gene variant of a recessive genetic disease on the X chromosome, there is a 1/2 chance that the male child born will become ill.

How to reduce birth defects? The key is prevention!

Birth defects are actually preventable and curable. For example, under the policy of folic acid supplementation for pregnant women promoted in my country, neural tube defects directly related to folic acid have dropped by more than 90%. Experts suggest that we should be alert to the hidden hunger caused by trace element deficiency and block the occurrence of birth defects from the source of pregnancy preparation.

At present, China has established a “three-level birth defect prevention system”.

Primary prevention aims to prevent the occurrence of birth defects.

Specific measures include: actively undergoing premarital checkups; conducting prenatal checkups 4 to 6 months before pregnancy; avoiding close relatives marrying and giving birth at an older age; getting rubella vaccines 3 months before pregnancy; staying away from drugs, smoking, and drinking; women should avoid contact with harmful substances;

Supplement folic acid from 3 months before to 3 months after pregnancy; detect and treat diabetes in time in early pregnancy, etc.

Secondary prevention, aimed at reducing the birth of children with birth defects, refers to prenatal screening, prenatal diagnosis, and maternal health care, including blood biochemical indicators, chromosomal abnormalities, and NTD screening for early and mid-pregnancy women; and ultrasound screening for major malformations around 20 weeks of pregnancy.

Tertiary prevention, aimed at improving the quality of life and health of children, refers to newborn disease screening and systematic child care, including screening for common congenital defects in newborns, timely detection and intervention.

To prevent and control birth defects, I take action and I stay healthy!

Comprehensive sources: Xinhuanet, CCTV Video, National Health Commission Maternal and Child Health Department, etc.

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