According to the 2010 Global Burden of Disease (GBD) study, 6.4% of neonatal deaths are attributed to birth defects, ranking fifth among all causes of death. How to prevent birth defects in children is a topic that every family is concerned about.
The sixth academic conference on prenatal diagnosis of the Guangdong Provincial Medical Association was held in Guangzhou from July 1st to 3rd. The reporter learned that there will be huge subjective judgment differences in the results of ultrasound examinations received by pregnant women in the hospital. For example, doctors’ subjective skill level, reading and judgment of ultrasound images may lead to missed detections, and the new technology ultrasound AI intelligent system can help solve this problem. At present, the ultrasound AI intelligent system has been used in more than 100 high-level hospitals across the country, including the First Affiliated Hospital of Sun Yat-sen University, Guangdong Maternal and Child Health Hospital. Experts call for ultrasound AI to be used clinically on a large scale as soon as possible to enable accurate prenatal screening to avoid the birth of children with severe birth defects and ensure the health of pregnant women and the normal development of the fetus.
The total incidence rate of birth defects in my country is about 5.6%
In recent years, with the continuous improvement of my country's birth defects prevention and control system and the in-depth implementation of three-level prevention and control measures, the prevention and control of birth defects has achieved certain results. The "China Birth Defects Prevention and Control Report" released in 2012 shows that the total incidence of birth defects in my country is about 5.6%.
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. They can also be caused by the interaction of these two factors or other unknown reasons. Common birth defects include congenital heart disease, limb malformations, hydrocephalus, cleft lip, polydactyly, neural tube malformations, etc.
Birth defects are the main cause of early miscarriage, stillbirth, perinatal death, infant death and congenital disability. They not only seriously endanger children's survival and quality of life, but also cause huge potential life loss and socioeconomic burden. Birth defects have become a public health problem that affects the quality of the population and group health. If appropriate intervention measures are not taken in time, birth defects will seriously restrict the further reduction of infant mortality in my country and the improvement of average life expectancy.
The prevention and treatment of birth defects includes tertiary prevention
Professor Xie Hongning, chief physician of the Obstetrics and Gynecology Department of the First Affiliated Hospital of Sun Yat-sen University, said that in order to deal with birth defects, our country has established a tertiary prevention system, of which secondary prevention is currently the most important. , that is, pregnancy screening and prenatal diagnosis.
According to the "National Comprehensive Prevention and Treatment Plan for Birth Defects" issued by the National Health Commission in 2018, comprehensive prevention and treatment measures for birth defects are required, which mentions three-level prevention: Primary prevention is to coordinate and implement pre-marital examinations for people at different stages of marriage and childbearing. , pre-pregnancy eugenic health examination, supplementation of folic acid and pregnancy health care and other services; secondary prevention pays attention to pregnancy screening and prenatal diagnosis, which can early identify fetal congenital defects and reduce the birth of defective children; tertiary prevention includes chromosomal genes During the examination and after the baby is born, attention should be paid to the tracking, diagnosis, treatment and intervention of positive cases in neonatal disease screening, so as to facilitate timely treatment and improve the life and health of the children.
Professor Xie Hongning said that ultrasound examination is the most important part of pregnant women’s prenatal checkup. During the entire growth and development monitoring process of the fetus, prenatal ultrasound is an irreplaceable examination, and it is almost the only imaging examination that can be performed on pregnant women to directly observe whether the fetus has birth defects. Only after abnormalities are discovered during ultrasound examination, pregnant women will be guided to undergo genetic testing, amniotic fluid drawing, chromosome testing and other tests.
Ultrasound AI can help improve the accuracy of prenatal screening
However, there will be huge subjective differences in the results of ultrasound examinations received by pregnant women in the hospital. For example, the doctor’s subjective skill level, reading and judgment of ultrasound images may lead to missed detections.
In order to solve this problem, the ultrasound AI analysis system came into being.The system was jointly developed by a number of top-level medical institutions across the country, including the First Affiliated Hospital of Sun Yat-sen University, as well as the School of Computer Science at South China University of Technology and other institutions. Dr. Wang Nan, executive director of the Guangdong Ultrasound Medical Engineering Association, said that as long as the system is placed at the hands of ultrasound doctors, it can provide ultrasound doctors with real-time and synchronized analysis results, which to a large extent solves the problem of differences in doctor levels and prevents missed tests. The purpose of quality control and efficiency improvement.
The First Affiliated Hospital of Sun Yat-sen University has held three human-computer competitions from 2019 to 2021 to simulate clinical usage scenarios. The third human-machine competition was held in the Ultrasound Department of the First Affiliated Hospital of Sun Yat-sen University. The results proved that AI’s ability to recognize dynamic ultrasound images has reached the level of senior doctors. The results have been published as the paper "Using Real-time Artificial Intelligence Detection System to Screen Fetuses". "Abnormal sound images in standard brain sections" was published separately in "Obstetrics and Gynecology", the most authoritative magazine in the field of obstetrics and gynecology.
In addition, the Guangdong Maternal and Child Health Hospital also held a human-machine competition in December 2021 involving 36 doctors of different levels from different hospitals. The results of this human-machine competition showed that doctors using AI can improve their diagnostic capabilities and reduce 6%- There is a missed diagnosis rate of 10%, and relevant research papers are being written.
Tips: How to prevent birth defects?
To prevent birth defects, in addition to the more familiar proactive premarital examinations , pregnancy examinations, regular prenatal examinations, and folic acid supplements, according to the "Core Information on Health Education for the Prevention and Control of Birth Defects" issued by the National Health Commission, the following aspects should also be paid attention to in preventing birth defects. :
1. Pregnancy of women of appropriate age and scientific preparation for pregnancy
Pregnancy of women over 35 years old is considered advanced pregnancy, which will increase the risk of gestational hypertension, diabetes and adverse pregnancy outcomes such as embryonic termination, miscarriage, and fetal birth defects.
During pregnancy preparation, eat a reasonable diet, exercise moderately, maintain a suitable weight, have a regular schedule, relax, quit smoking and drinking, avoid exposure to second-hand smoke, stay away from drugs and addictive drugs, and develop healthy living habits and behaviors.
2. Avoid contact with toxic and harmful substances
Before and during pregnancy, you should avoid contact with toxic and harmful substances such as lead, mercury, benzene, formaldehyde , pesticides, and avoid exposure to radiation. It is not advisable to have close contact with cats, dogs and other animals.
3. Actively treat their own diseases
Women who plan to become pregnant if they suffer from cardiovascular disease, diabetes, thyroid disease, pulmonary disease, mental disorder, autoimmune disease, etc. should be actively treated until the disease is cured or the condition is improved. Prepare for pregnancy after stabilization.
4. Use medication with caution during pregnancy
Illness during pregnancy may have adverse effects on the health of the mother and fetus. Pregnant women who are sick should seek medical treatment promptly and use medications rationally under the guidance of a doctor. They should neither take medications without authorization nor refuse to take necessary medications because they are overly worried about their effects on the fetus.
5. Supplement small doses of folic acid
Women preparing for pregnancy should take 0.4 mg of folic acid or a multivitamin containing 0.4 mg of folic acid every day starting 3 months before pregnancy and at least until 3 months after pregnancy to reduce the risk of fetal neural tube defects. You can consult your local maternal and child health care institution about the policy of receiving free folic acid.
6.ThalassemiaHigh-incidence areas should be screened
People in Fujian, Jiangxi, Hunan, Guangdong, Guangxi, Hainan, Chongqing, Sichuan, Guizhou, Yunnan and other regions have a higher thalassemia (thalassaemia) gene carrying rate, and both couples You should take the initiative to undergo thalassemia screening before marriage, pregnancy or during pregnancy. The sooner the better, to know whether you carry the thalassemia gene. High-risk couples identified through screening should undergo prenatal diagnosis to avoid the birth of children with thalassemia major.
7. Pregnant women should be screened for Down syndrome during pregnancy
Pregnant women should make informed choices at medical institutions for prenatal screening for Down syndrome between 12 and 22 weeks of pregnancy. Pregnant women over 35 years old should go to a qualified medical institution for prenatal diagnosis.
8. Newborns should be screened promptly after birth
Newborns should be promptly screened for diseases such as phenylketonuria, congenital hypothyroidism and hearing impairment after birth to promote early detection and diagnosis of congenital diseases. , early treatment; children aged 0-6 years should receive child health services regularly.
Text/Guangzhou Daily·New Flower City Reporter: Zhang Qingmei Correspondent: Yu Min
Picture/Guangzhou Daily·New Flower City Reporter: Zhang Qingmei Correspondent: Yu Min
Guangzhou Daily·New Flower City Editor: Zhang Yu
