Focusing on preventing congenital diseases and disabilities, AI-enabled ultrasound accelerates the sinking of "production screening" to the grassroots level

China Times (www.chinatimes.net.cn) reporters Guo Yilin and Yu Na reported from Beijing

In order to improve the comprehensive prevention and control capacity of disability risks in the whole society and effectively control and reduce the occurrence of disabilities, August 25 of each year has been established as "National Disability Prevention Day" since 2017.

On the eve of the seventh National Disability Prevention Day, 17 departments, including the China Disabled Persons' Federation and the Cyberspace Administration of the People's Republic of China, jointly issued a notice to deploy and carry out publicity and education activities for the seventh Disability Prevention Day. It is understood that the theme of this publicity and education activity is "preventing congenital disabilities and protecting a better future". It aims to raise awareness of the prevention and control of birth defects and disabilities caused by developmental disabilities. Hu Xiangyang, Director of the China Disabled Persons' Federation and Director of the Department of Rehabilitation, said, "In 2022, with the joint efforts of all localities and departments, the main tasks in the National Action Plan for Disability Prevention (2021-2025) have been well completed. ”

According to the World Health Organization's (WHO) definition of birth defects, such diseases are one of the main factors contributing to birth disabilities. "Universal fetal ultrasound screening and early detection of fetal birth defects is particularly important to prevent congenital disabilities. In recent years, with the introduction of AI technology into traditional prenatal ultrasound screening, the level of grassroots screening has been greatly improved. Chen Dongyuan, marketing manager of Guangzhou Aiyuji Information Technology Co., Ltd., told the "China Times" reporter. After the birth of a newborn, the screening of newborn genetic metabolic diseases, hearing screening and other diseases is to detect birth defects as early as possible, so as to facilitate early diagnosis and early treatment and avoid irreversible damage or disability to important organs.

Birth screening is a boon to tens of millions of newborns

A cry announces the birth of a new life. When the newborn leaves the mother, it means that intrauterine development ends. And those children with birth defects, this regret will stay with them for the rest of their lives.

In fact, birth defects are a major public health concern worldwide and a leading cause of early miscarriage, birth disability and even death. According to WHO survey data, the mainland is one of the countries with the highest incidence of birth defects. According to 2020 statistics, 1 in 33 children worldwide has a fetal abnormality, and 3.2 million babies are born with disabilities every year. On the mainland, 800,000-1.2 million children with defects are born every year, accounting for 4%-6% of all births.

In the folk, birth defects are commonly known as "congenital malformations". According to clinical medicine, it includes two concepts: malformations and functional abnormalities. That is, developmental abnormalities that occur in the mother and deformities that exist in certain parts of the body before the baby is born.

An unnamed obstetrician and gynecologist from a third-class hospital told the China Times reporter, "Clinically, some birth defects are visible to the naked eye at the birth of the baby, called 'deformities', such as cleft lip and palate (rabbit lip), missing hands and feet, multiple fingers, etc." However, some abnormal birth defects cannot be seen with the naked eye, such as simple mental retardation, phenylketonuria (if not treated in time, intellectual disability will develop), progressive muscular dystrophy (5-6 years old onset, mainly lower limb weakness, death at the age of 20), etc., are gradually revealed with the growth and development of children. ”

When talking about the causes and prevention of birth defects, the above-mentioned interviewed doctors said, "Social medical research believes that birth defects have a very wide range of pathogenic factors, such as genetics, environment, nutritional status, etc. It is usually not controlled from the etiology, and early screening and early detection are currently commonly used prevention and treatment programs. Therefore, in the second half of 2012, the former Ministry of Health released the Report on the Prevention and Treatment of Birth Defects (hereinafter referred to as the "Report"), which was compiled by the Maternal and Child Monitoring Center of the former Ministry of Health based on national data.

The Report points out that the prevention of birth defects requires tertiary prevention. Primary prevention is a comprehensive intervention before pregnancy to reduce the occurrence of birth defects through genetic counseling, health education, infection prevention, etc.; Secondary prevention is to identify serious birth defects in the fetus through pregnancy screening and prenatal diagnosis, and early detection and early diagnosis can reduce the birth of children with defects, mainly to screen out congenital structural abnormalities and some chromosomal abnormalities. Many functional or metabolic abnormalities, such as hearing impairment and inherited metabolic disorders, rely on tertiary prevention, which is early screening of newborns after birth.

In this context, in December 2021, after the General Office of the State Council issued the National Disability Prevention Action Plan (2021-2025), the Disabled Persons Work Committee of the State Council held a national disability prevention promotion meeting and established a coordination group for disability prevention composed of 19 departments, including the Central Propaganda Department and the National Development and Reform Commission. In terms of the popularization of disability prevention knowledge, compile and publish the "Core Knowledge of Disability Prevention (2022 Edition)" to build a disability prevention science knowledge resource base.

Subsequently, with the efforts of all parties, with the improvement of the national top-level design, the optimization of prevention and control measures and the advancement of biomedical science and technology, the foundation of group prevention and mass control has been continuously consolidated. According to the "China Birth Population Cohort Study" by the team of Professor Yin Zhaohong's team of Beijing Obstetrics and Gynecology Hospital affiliated to Capital Medical University, the incidence of birth defects in mainland China has dropped to 2.5%-3.0% by the end of 2021.

Reducing the disability rate is beneficial in the future

Since June 2017, the State Council has approved the designation of August 25 as "Disability Prevention Day" every year, aiming to "promote disability prevention and build a healthy China". In 2018, "disability prevention, starting with me" was proposed; In 2019, "disability prevention starts from the source of life"; In 2020, "disability prevention, starting with early childhood intervention"; In 2021, it proposed to "strengthen disability prevention and promote health for all". In 2022, it proposed to "popularize disability prevention knowledge and build a healthy China".

To date, positive results have been achieved in popularizing knowledge on disability prevention, preventing birth defects and developmental disabilities, disabling from illness, disability caused by injury, and promoting disability rehabilitation services. In the past 7 years, what has China done right in disability prevention? What replicable lessons have been developed?

In this regard, Hu Xiangyang said, "The coverage rate of the target population of pre-pregnancy eugenic health examination has reached 93.5%, the rate of neonatal genetic metabolic diseases and newborn hearing screening has reached 98.1% and 97.1% respectively, the systematic management rate of children under 3 years old has reached 93.0%, the basic standardized management rate of patients with major chronic diseases such as hypertension and diabetes has exceeded 60%, the cataract recovery surgery rate of millions of people has exceeded 3,000, and the standardized management rate of registered patients with severe mental disorders has exceeded 80%. The number of production safety accidents nationwide decreased by 24% year-on-year. 407,000 disabled children have received rehabilitation assistance, more than 8 million disabled persons have received rehabilitation services, and the coverage rate of basic rehabilitation services for disabled persons and the adaptation rate of basic assistive devices have reached more than 85%. ”

"This is a landmark event." In the view of medical staff in the industry who have paid for the prevention of birth defects, "the prevention of birth defects and the prevention of congenital disabilities are included in the national planning and management level, and the benefits are in the present." ”

In recent years, with the advancement of science and technology and the development of medicine, the popularity of screening has expanded. For example, special screening of fetal heart ultrasound requires very high technology and experience, which may be difficult to achieve in many primary hospitals. AI technology has gradually introduced traditional prenatal ultrasound screening, bringing great changes to the prevention of disability.

As far as the distribution of medical care in mainland China is concerned, high-quality medical equipment, medical technicians, and more advanced hospital management models are basically concentrated in large cities. Grassroots medical institutions are the key gateway to protect people's health, and they are also a key part of the popularization of birth defect screening.

Unlike human doctors, AI has multiple advantages through learning with a large sample size. "On the one hand, AI-enabled imaging further improves the accuracy and efficiency of prenatal inspection; On the other hand, reduce the basic workload of doctors and allow them to focus more on diagnosis and treatment recommendations; In addition, AI is constantly learning to iterate on large amounts of medical data to ensure its reliability and effectiveness in different populations. Chen Dongyuan said frankly.

Editor: Yan Yuan Editor-in-chief: Chen Yanpeng