A number of obstetric hospitals in Shanghai have focused on birth defect consultation and screening to reduce the incidence of rare diseases.
28 February is World Rare Disease Day. The total incidence of birth defects in mainland China is about 5.6%, about 200,000-300,000 congenital malformations are born every year, and every 200 newborns, one child with chromosomal abnormalities is born. At present, there are nearly 9,000 known birth defects, such as congenital heart disease, polydactyle, cleft lip and palate, genetic mutations, intake of toxic and harmful substances, nutrient deficiencies and other genetic factors and environmental factors can lead to the occurrence of birth defects, which has become an important risk factor threatening the quality of the mainland and even the global population.
"Shanghai Birth Defect Prevention and Control Alliance" was established. International Peace Maternal and Child Health Hospital Courtesy photo
On the afternoon of the same day, the Shanghai Municipal Center for the Prevention and Treatment of Birth Defects held its first working meeting at the International Peace Maternal and Child Health Hospital of the China Welfare Association (hereinafter referred to as the National Maternity and Child Health Center). The meeting revealed that with the support of the Shanghai Municipal Health Commission, the Shanghai Birth Defects Prevention and Health Care Center set up the Shanghai Birth Defect Genetic Counseling and Training Expert Group, and established the "Shanghai Birth Defect Prevention and Control Alliance" to create a "Shanghai experience and consensus" for the prevention and treatment of birth defects.
Industry insiders believe that maternal and child health care is an important threshold for the prevention of serious birth defects and rare diseases.
As early as April 2021, the Obstetrics and Gynecology Hospital affiliated to Fudan University initiated the establishment of the "Red House Birth Defect Alliance", which is committed to building a three-level prevention and treatment system for birth defects covering all stages of pregnancy, pregnancy, newborn and children, and more than 50 medical institutions, colleges and universities, and scientific research institutes with specialties related to the diagnosis and treatment of birth defects have joined this alliance. The Alliance can carry out screening and diagnosis of birth defects and rare diseases throughout pregnancy, pre-implantation, prenatal and newborn stages of "birth defect" diseases of genetic metabolism, digestion, kidney, nerve and other systems.
Shanghai First Maternal and Infant Health Hospital also announced the establishment of a "Birth Defect Prevention and Control Consultation Clinic". Courtesy of Shanghai First Maternal and Infant Health Hospital
On February 28, Shanghai First Maternal and Infant Health Hospital also announced the establishment of the "Birth Defect Prevention and Control Consultation Clinic". Wang Yu, president of the hospital, said that the outpatient clinic awarded this time is the "first line of defense" of the three-level prevention system for birth defects, aiming to increase the intensity of science popularization and education, screen out high-risk groups during pregnancy preparation and early pregnancy, and truly realize the prevention and control threshold forward.
What kind of people need to see a birth defect prevention and control consultation clinic? Is it necessary for couples with a family history of genetic diseases or who have given birth to a child with a genetic disorder?
In this regard, Sun Luming, director of the Fetal Medicine Department of Shanghai First Maternal and Child Health Hospital, pointed out that many people have cognitive "misunderstandings" at present, in fact, healthy pregnancy groups may also be carriers of a pathogenic gene, most of them themselves will not be sick, but when both husband and wife carry disease-causing variants on the same gene, it is possible to have sick children, "so it is very necessary to carry out extended carrier screening during pregnancy preparation, and high-risk groups can achieve early diagnosis through third-generation IVF and prenatal diagnostic technology, and implement early intervention. Thus reducing the birth of children with severe rare diseases. However, at present, most people lack understanding and attention to the content of primary prevention of birth defects and related new developments, which is the original intention of the hospital to open a birth defect prevention and control consultation clinic.
"We will gradually form a more standardized, standardized and institutionalized three-level prevention and control and treatment system for birth defects, improve the monitoring, analysis, treatment and scientific research level of birth defects, and rely on 16 marriage examination and prenatal diagnosis centers in the city to provide pregnant women with a full range of health screening and diagnosis services." Wu Qianyu, a first-level inspector of the Shanghai Municipal Health Commission, said.
Wu Qianyu further pointed out that Shanghai, as a pioneer city in innovation and development, is at the forefront of precision medicine in the country and even the world, and the intervention of genetic testing and other technologies has provided great help for genetic diseases, rare disease diagnosis and evidence-based guidance for clinical diagnosis and treatment. As early as 2018, the Shanghai Municipal Health Commission took the lead in experimenting, issued and implemented the "Shanghai Genetic Counseling Technical Service Management Measures (2018 Edition)", took the lead in carrying out standardized birth defect genetic counseling training in Shanghai, starting from the source, providing professional guidance and training for medical personnel for the prevention and treatment of birth defects, and providing a solid policy cornerstone and professional foundation for further realizing reproductive health and creating a first-level prevention and control of birth defects.