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neonatal genetic metabolic diseases are an important focus of the medical community. the incidence is high and difficult to predict. once discovered, it means a silent "battle". one drop of blood can detect 40 to 50 diseases, but the diagnostic range of "one drop of blood" still has limitations. for example, if the child is screened during neonatal screening, but the symptoms are not complete, it will lead to the inability to intervene in time, resulting in irreversible lifelong damage. for example, the story of tintin, he experienced an unimaginable disease and eventually lost his ability to move.
"(he) was diagnosed too late." liu yingna's sharing is heartbreaking. she told reporters that the disease ding ding suffers from is called methylmalonic acidemia (mma), an organic acid metabolic disease. in theory, patients with this disease can be immediately discovered if they undergo tandem mass spectrometry screening for neonatal genetic metabolic diseases after birth. however, according to statistics from patient organizations, only about 37.45% of patients are discovered in neonatal screening. "if diagnosed earlier, ding ding's experience could have been avoided."
in recent years, with the advancement of screening technology, some progress has been made in the diagnosis and treatment of neonatal genetic metabolic diseases. however, there are still many problems.
first, screening technology has developed rapidly, but its scope of application is still relatively narrow. for example, different tests are needed for different diseases, which expands the scope of screening to more types of genetic diseases. at the same time, multiple factors need to be considered during the diagnosis process, such as the specific conditions of the disease, the patient's age and other health conditions.
secondly, there is a certain time lag between diagnosis and treatment. for example, if the child is diagnosed in the neonatal stage, timely intervention measures can be taken, but if the diagnosis is delayed, the condition may worsen or even become unrecoverable.
third, with the advancement of technology and the improvement of patients' cognitive level, people's demand for disease treatment is also growing. for example, as medical costs increase, patients' expectations for medical services are getting higher and higher, which also requires medical institutions to further improve service quality and provide patients with more complete information and support.
in the future, with the advancement of technology, newborn screening will be more accurate and the diagnosis time will be shortened. at the same time, parents should also actively learn about genetic diseases, detect and treat them in time to protect their children's healthy growth.
