China Prevention Deficiency Day | Protecting the new life, starting with the prevention of birth defects

The intersection news September 12, 2022 is the 18th "China Prevention Flack Day". The theme of this year's event is "Prevention and treatment of birth defects and promote childbearing health." Xinhua Daily · Jiaojiao reporter learned that my country, as one of the high-incidence countries in the world, has 800,000 to 1.2 million birth defects each year, and a defect will be born every 30 seconds. The birth defect has become the first reason for the death of a baby. Breeding a healthy baby is the eager desire for every family. So what is birth defect? Will health parents also give birth to children with "defects"? How can we prevent it? The reporter invited experts from Nanjing Maternal and Child Health Hospital to science popularization-

What are the defects of birth?

"Birth defects", that is, the "congenital malformations" in popularity, refer to abnormal body structure, function or metabolic abnormalities that occur before the baby is born. Birth defects can be caused by genetic factors or environmental factors such as chromosomal distortion, gene mutations, etc., or interaction between these two factors or other unknown causes, usually include congenital malformations, chromosomal abnormalities, genetic metabolic diseases, and function abnormalities (such as blindness, such as blindness, such as blindness, such as blindness, such as blindness, such as blindness. Deafness and intellectual disorders).

What are the factors that cause birth defects?

Studies have shown that there are many factors that cause birth defects.

Genetic factors: include genetic mutations, number of chromosome, and abnormal structural abnormalities.

Environmental factors: biological factors, such as viruses, bacteria, parasites and other pathogens; chemical factors, such as pesticides, heavy metals, chlorine chloride and other polymer compounds, etc.; Physical factors such as X -ray radiation; drug factors, such as antibiotics, hormones, living Vaccine, etc.

Nutrition factors: Nutrition also affects birth defects. After the embryo is affected by nutrition, it can not only temporarily hinder the growth and development of the tissue, but also affect the tissue structure and functions in the future. Although the appearance of organs and tissues is normal, the number and size of the cells and the reaction of tissue chemistry will change.

Other factors: such as drinking, smoking, etc., can also cause birth defects.

Will health parents also give birth to children with genetic diseases?

Yes, these genetic diseases are usually single genetic diseases. Single genetic disease refers to genetic diseases caused by a single pathogenic gene. At present, the OMIM database shows more than 9,000 single genetic diseases, and a single disease is rare, but the comprehensive incidence rate is about 1%.

Xu Zhengfeng, deputy dean of Nanjing Maternal and Child Health Hospital, introduced that among the birth defect diseases, the proportion of single -gene disease is as high as 22.2%. Single -gene disease can cause death, teratogenic, disabled, lack of effective treatment methods or expensive treatment costs, common singles Gene genetic diseases include spinal muscle atrophy (SMA), deafness, Du's muscle malnutrition (DMD), hemophilia, etc.

Studies have shown that normal people carry 2.8 pathogenic genetic variations with 2.8 invisible genetic diseases. These variations do not cause symptoms of carriers, but if the husband and wife carry the pathogenic genetic mutation of the same hidden genetic disease on the normal chromosomes, fertility, fertility, fertility, fertility During the offspring, there was a 1/4 chance to inherit their own pathogenic variations to the future generations, causing the offspring to be ill; if the woman carried the pathogenic genetic variation of the hidden genetic disease on the X chromosome, there was 1/2 of the child who was born with the probability of the child. Will get sick.

To reduce birth defects, prevention is the best policy

The birth defect can actually be prevented. For example, under the policy of adding folic acid promoted in my country, neural tube defects directly related to folic acid have decreased by more than 90%. Experts remind you to be alert to the hidden hunger of trace element deficiency, blocking the occurrence of defects from birth defects from the source of pregnancy.

At present, China has established a "three -level prevention system for birth defects."

First -level prevention is to prevent defects.

Specific measures include: active marriage examination; pre -pregnancy examinations for pregnancy for 4 to 6 months before pregnancy; avoid marriage and age of close relatives; vaccination of rubella vaccines 3 months before pregnancy; stay away from drugs, quit smoking, and abstain from alcohol; women should avoid harmful substances;

Folic acid is supplemented from 3 months before pregnancy to 3 months after pregnancy; timely discovery and treatment of diabetes in the early pregnancy.

The second -level prevention is designed to reduce the birth of birth defects. It refers to pre -delivery screening, prenatal diagnosis, and health care for maternal health, including early pregnancy, mid -term pregnant women's blood biochemical indicators, chromosomal abnormalities, and NTD screening; about 20 weeks of pregnancy; about 20 weeks of pregnancy Do ultrasonic deformed screening.

Three -level prevention is to improve the quality of life of children and promote health. It refers to the screening of neonatal diseases and children's system health care, including common innate defect screening for newborns, and timely discovery and intervention.

Police diagnosis to help

With the improvement of prenatal diagnosis and the level of genetic testing, many birth defects can be diagnosed by pre -pregnancy and prenatal screening, and take effective measures to kill severe birth defect diseases in the "prototype".

The main method of prenatal diagnosis:

Invasiveness method: velvet biopsy, amniotic pesus, fetal umbilical vein puncture, fetal mirror and embryo biopotic tissue.

Non -invasive methods: Preparatory diagnosis, nourishing cells, serum screening and ultrasonic diagnosis of pregnant women, pregnant women, pregnant women's weekly fetal cells, and DNA separation diagnosis.

The advent of non -invasive DNA prenatal testing technology (NIPT) is a model of new technologies for clinical success. It has now become an effective supplement to my country's domestic pre -screen screening and diagnostic system, which has injected new vitality into the prevention and control of birth defects in my country.

The main object of prenatal diagnosis:

For elderly pregnant women over 35 years of age, there are pregnant women with chromosomal abnormal child childbirth. The couple are abnormal chromosomal structures, congenital malformation history, and the couple have congenital metabolic diseases, or pregnant women who have give birth to diseases.In contact history, in the early pregnancy, a virus infection, especially the infection of rubella virus; the history of hereditary family, the reasons for abortion, death, abnormal or newborn death, and pregnant women suspected of teratogenic.Experts remind patients that birth defects are very complicated and diverse. If high -risk families with genetic history are re -fertilized, they must do related genetic testing and health consultation. Other adults and even elderly diseases.It is birth defect disease, and the causes are found through multidisciplinary consultation.

Xinhua Daily · Jiaojiao Reporter Wang Tian

Tuyuan Vision China

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