September 12 is the prevention of birth defects.The theme of this year is: "Prevention of birth defects, and our action in China."
Birth defects are also known as "congenital malformations", which refers to abnormal body structure, function or metabolic abnormalities that occur before the baby is born.From slight to severe, there are more than 4,000 birth defects.According to the statistics of the China birth defect prevention report (2012) released in September 2012, the incidence of defects in my country is currently about 5.6%, and the number of new birth defects is about 900,000 cases each year.10 types of diseases such as congenital heart disease, multi -finger (toe), lip cracks, neural tube defects, and congenital hydrocephalus are currently high -incidence of birth defects in my country, accounting for 65.9%.In response to the above phenomena, we invite relevant experts to tell us how to minimize the possibility of birth defects.
first time
Don’t let birth defects destroy the next generation
Defective birth has become a major public health problem that the world has paid attention to.Although the incidence of birth defects in my country is close to the average level (5.57%) of the world’s medium -income countries, due to the large population base, it is still a high -incidence of birth defects.About 900,000 cases are added each year, and an average of a child with a birth defect is born every 30 seconds.
Who is behind the scenes of birth defects
Born defective diseases can cause long -term disability in patients and have a significant impact on individuals, families, health care systems and society.At present, the number one in my country ’s birth defect is congenital heart disease. The remaining positions are: multi -finger/toe, total lip cracks, horseshoe, lower urethra, hydrocephalus, small ears, short limbs, rectal and anal atresia or atresia or inset or anal atmosphere or anal atmosphere or anal atresia or incense or rectal and anal atresia or atresia or the rectum and anal atresia or atresia or the rectum and anal atresia. Sten and so on.
The severity and classification of birth defects are also due to different parts.For example, cardiac deformity, neurooth tube deformity and other seriously affect the function of the body, and even develop into a birth defect of death; some defects occur in the interior organ of the body, such as polycystic kidney, cryptor testing, esophageal, or anal atresia.Deforms may affect the functions of each system; birth defects such as multi -finger, parallel toe, parallel ear, cleft lip and palate occur on the body surface, which may have a certain impact on life; abnormal chromosomal and abnormal metabolism may affect the development of the embryo and the body’s material in the body.The normal metabolism is carried out.
"Three -way defense" to keep
If you want to minimize the birth defect and give birth to a healthy and lovely baby, the following "three lines of defense" must be kept.
The first line of defense: standardized production inspection during pregnancy.
The checkup is necessary to ensure the health of the mother and the fetus.The rapid development of prenatal diagnosis technology provides possibilities for screening genetic diseases and congenital malformations, which is of great significance for reducing the birth rate of the sick fetus and improving the quality of the birth of the fetus.Through ultrasonic imaging and fetal non -invasive DNA examinations, it can be more convenient and rapidly screening the fetal development process and the possibility of chromosomal abnormalities, and the test methods such as amniocestinal puncture, chorionic biopsy, umbilical cord puncture, fetal mirror and other examinations can be further clarified.The level of level.
The second line of defense: maintain a healthy lifestyle and a good mood.
For example, drinking less alcohol, regular diet, regular work, etc. is the basic prerequisite for ensuring the health of future generations.
The third line of defense: reasonable medication during pregnancy.
For example, supplementing folic acid 3 months before pregnancy to ensure that the folic acid of the maternal body reaches sufficient level during pregnancy, which can effectively prevent and control the occurrence of nerve tube deformities.In the 1990s, the "pregnant women’s supplementation folic acid project" had obvious prevention effect on neural tube malformation, which reduced neural tube malformation from the first place in birth defects in 1987 to the 8th place.
Second chapter
Reduce birth defects in three levels of prevention to check
The birth defect refers to the development of abnormal development in the mother’s uterus before the birth of a baby.Severe birth defects can lead to abortion, death, death, and death of infants or infants or children, or even long -term disability.Both doctors and patients conduct health education, health inspections and consultation guidance during marriage, pre -pregnancy and pregnancy, and implement intervention measures to prevent the occurrence of birth defects.In addition, parents should pay attention to the screening of neonatal diseases, and do not have a chance.The specific three -level prevention measures are as follows:
First -level prevention: Don’t ignore before marriage and pre -pregnancy examination
Pre -marital health service refers to the pre -marital medical examination, preoperative hygiene guidance, and prehistoric health consulting service for men and women who are preparing to get married.
Pre -pregnancy health services refer to pre -pregnancy health examinations and pre -pregnancy consultations for couples who are preparing to get pregnant (at least 3 to 6 months before pregnancy).Pre -pregnancy health care can make both the couple prepare sufficient preparation for conception, including the preparation of health status, living behavior and psychological state.Pre -pregnancy consultation is the best time to carry out health education for both couples.
In order to give birth to a healthy baby, the husband and wife should do the following:
1. Avoid aging.Try not to be more than 35 years old before getting pregnant.
2. Before pregnancy, both couples should reasonably adjust their diet structure to achieve scientific meals and balance nutrition.Women should pay special attention to folic acid supplement.The supplementation of folic acid from 3 months before pregnancy (at least 1 month) to 3 months after pregnancy can effectively prevent neural tube malformation.
3. Change bad living habits and behaviors, such as smoke, alcohol, and drug addiction.Intervention and adjustment of excessive fatigue, excessive stress, psychological anxiety, depression, etc., and treat it with medicine or psychological treatment if necessary.
4. Avoid contact with toxic and harmful substances, such as mercury, lead, organic solvents, pesticides, formaldehyde, etc.
5. Do not take medicine at will when preparing for pregnancy.If you need to take medicine, you should be carried out under the guidance of a doctor.
6. The couple should conduct a comprehensive medical examination to exclude the illness of fetal malformations.Women should also pay attention to checking the pathogens that cause fetal malformations, such as rubella virus, giant cytoplasm virus, and toxoplasma.
Two -level prevention: prenatal screening diagnosis is critical
Preparatory screening includes blood biochemical screening, prenatal ultrasound screening, and free DNA screening of blood fetuses peripheral of pregnant women.The blood biochemical screening during the middle pregnancy is generally carried out in 15 weeks of pregnancy to 20+6 weeks. Through the quantitative determination of certain specific biochemical indicators in mother blood, 21-trisomy syndrome, 18-trio syndrome and openHigh -risk groups of sexual nerve tube malformation in order to further confirm the diagnosis.At present, pregnant women over 35 years of age should be detected.The ultrasonic screening should be carried out from 11 weeks to 13+6 weeks and 20 weeks to 24 weeks. Ultrasonic has no obvious damage to the mother and children. The method is simple. Through ultrasoundSystemic ultrasound screening should be performed in the appropriate gestational week.
Pregnant women peripheral blood fetal free DNA testing is the application of high -throughput gene sequencing and other molecular genetic technologies to detect the fetal segment of the fetus during pregnancy during pregnancy to evaluate the abnormal risk of non -rectification of the fetal non -rectification of the fetus.
Preparatory diagnosis includes genetic consulting, ultrasonic image diagnosis, cell genetic and molecular genetic diagnosis.For those who have high risks, too much or too little amniotic fluid during pregnancy, abnormal fetal development or suspicious malformations in the fetus, material in the early pregnancy of pregnant women who may lead to congenital defects in the fetus, family history of genetic diseases, or bad fertility historyPregnant women who are over 35 years old should be recommended to accept prenatal diagnostic services.
The above is the first and second -level prevention measures for birth defects.The implementation of these measures before marriage, pre -pregnancy and pregnancy can effectively prevent at least 65%of the occurrence of serious birth defects and play a key role in preventing birth defects.
Three -level prevention: Pay attention to the screening of newborn diseases
Through the screening of neonatal diseases and children’s system health care, the birth defects of potential diseases can be found as soon as possible, so that they can get early diagnosis, timely treatment, avoid or reduce the occurrence of disability, and improve the quality of life of children.The above is a three -level prevention of birth defects.
It should be emphasized that at present, the screening projects of free newborn diseases carried out in Beijing include: congenital genetic metabolic disease screening, specifically including congenital thyroid dysfunction (CH), phenylite urine (PKU) and 21-Congenital adrenal cortic hyperplasia (CAH) screening caused by lack of hydroxylase; combined screening of hearing and deafness genes; congenital heart disease screening; developmental hip dislocation screening.Some regulation institutions also carry out other screening items, such as the application of series spectrum screening for a variety of organic acids, fatty acids, and amino acid metabolic disorders.In addition to screening for the above diseases, children’s system health care, including newborn visits and regular health check -ups of children 0 to 6 years old, can also be found early to discover the development of growth and development, visual obstacles, hearing impairment, psychological behavior developmentOther types of birth defects that are expressed in abnormalities.
Prevention of birth defects
What can gene test be done?
In fact, each of us will carry several pathogenic genes, and every healthy couple may have children with genetic diseases.Especially when a couple carry the pathogenic genes of the same disease or a pathogenic gene is carried by one person, they may have a child with a genetic patient.There are currently 7,000 to 8,000 hereditary diseases found. Although the incidence of each disease is low, there are many diseases, and the overall incidence rate is not low in the crowd.Because most genetic diseases lack effective treatment methods, prevention is more important than treatment.Most of the conventional pregnancy examinations of most single gene genetic diseases cannot be found. For some high -risk groups can conduct genetic consultation before pregnancy, choose the appropriate single -gene genetic disease for genetic screening, and timely understand the carrying of pathogenic genes.High -risk couples can conduct prenatal diagnosis of the gene during pregnancy to prevent the birth of children with genetic diseases.
Text: Beijing Maternal and Gynecology Hospital, Yinhong Liu Kaibo, Yinhong Liu Kaibo, Yin Yinhong
Edit: Guan Zhongyao
Review: Cao Zheng
