What are the 44 types of tandem mass spectrometry for disease screening?

This is a collective name for 44 genetic metabolic defect diseases that can be covered at one time using tandem mass spectrometry technology in the field of domestic newborn genetic metabolic disease screening. It mainly includes three categories of rare diseases: amino acid metabolism disorders, organic acid metabolism disorders, and fatty acid oxidation metabolism disorders.

Parents who have just given birth must have the impression that when collecting foot blood, nurses often ask whether they need to do more comprehensive screening for metabolic diseases. Most of them talk about this project, which has much wider coverage than the conventional screening for 2-3 basic genetic diseases. There is still a lot of controversy about this project on the Internet. Many parents feel that this is an unnecessary value-added project. After all, the overall incidence rate of these 44 diseases is only a few ten thousandths. Ordinary families will most likely not be able to step into this trap, and spending hundreds of dollars is a waste. ； However, most clinicians in the pediatrics and genetics departments will suggest that if there is a child who has died of unexplained causes, the first child has a history of metabolism, or the family is a consanguineous marriage, it is best to have this project as a must. Ordinary families can also choose according to their needs. After all, the results of early screening and late screening are very different.

Last year, I met a little patient who was transferred from another place. He couldn't raise his head even after he was half a year old. After a blood test, he was found to have methylmalonic acidemia, which happened to be one of the 44 types. The parents said that when the baby was born, they felt that the screening was useless and they did not do it. By the time the symptoms were discovered, the child's nervous system had already been irreversibly damaged. Even with long-term treatment, it would be difficult to catch up with the development level of a normal child.； If they are screened out right after birth, and they control their diet and take special formula powder since childhood, they can go to school and work normally, just like ordinary people.

Tandem mass spectrometry is indeed a clever technology. Unlike in the past, where diseases were diagnosed one by one, it can detect the concentration of dozens of metabolites at the same time with just a drop of foot blood. As long as the value is not within the normal range, the possible corresponding metabolic defects can be inferred. This is why it is possible to cover so many diseases at a very low cost. If these 44 diseases were checked one by one, thousands of people would not be able to detect them. Oh, by the way, don’t think that this screening is a one-and-done thing. Firstly, there are many hereditary metabolic diseases that are not covered by these 44 types. Secondly, there is a certain probability of false positives in the initial screening. If the results show abnormality, don’t panic. Just go for a reexamination as required. Most of the false positive reexaminations can be passed. If you are really diagnosed and intervene as soon as possible, the prognosis of most diseases is not bad.

I usually encounter parents who are struggling with this in the outpatient clinic, and I never force them to do it. After all, everyone’s needs are different. If you are tight on money and don’t have high-risk factors, it is perfectly fine to choose basic screening. If you want to have peace of mind, a few hundred dollars can be exchanged for several years of stability in the future. It is not a loss no matter how you calculate it. There is really no need to worry about this matter.