Question
When checking a newborn for 48 diseases, it’s said that tonsillitis is present. My friend wants to know what symptoms it has, how severe it is, and whether it can be treated. Can you explain what happens when there are 48 genetic abnormalities in newborn disease screening?
Answer
Currently, our screening methods mainly include rare diseases such as phenylketonuria and congenital hypothyroidism. In some areas, additional projects may be added based on actual needs, such as G6PD deficiency, congenital adrenal hyperplasia, galactosemia, and others. Screening out 48 genetic metabolic diseases is related to family history. For most people, the necessity is not very great, but for children with a family history of genetic diseases, it is very necessary when combined with family history. After all, many diseases can be prevented or mitigated by early diagnosis and treatment to avoid or reduce long-term serious consequences.