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

The 44 types of tandem mass spectrometry we often talk about in disease screening are actually a routine screening package for genetic and metabolic diseases in newborns. Relying on liquid chromatography-tandem mass spectrometry technology, only a few small drops of heel blood can be used to detect dozens of metabolite indicators in the blood at once, covering 44 types of currently clinically recognized Most of the high-incidence and interventionable genetic metabolic abnormalities fall into the three categories of amino acid metabolism diseases, organic acid metabolism diseases, and fatty acid oxidation metabolism disorders. Of course, a few adults will undergo similar tests when they suspect genetic metabolic abnormalities, but the 44 packages we usually talk about are all used for newborn screening by default.

Speaking of which, this technology has been popularized for a long time. Compared with the traditional newborn screening in the early years, which could only detect 2-3 genetic metabolic diseases, the coverage is much wider. The sampling is also very simple. After the baby is born 72 hours and has had 6 times of breast milk, just prick the heel and take a few drops of blood and put it on the special filter paper. It is basically painless.

However, there are different opinions in the industry about this 44-type screening package. Some experts believe that the incidence rate of some of the included diseases is too low, even as low as one in hundreds of thousands, and the intervention effect is not clear. When included in routine screening, false positives are likely to occur, causing unnecessary psychological burden to parents. I had encountered such a case when I was rotating at the city's maternal and child screening center. New parents were anxious after giving birth. They cried on the spot after receiving a call from the initial screening indicating that it might be isovaleric acidemia. They carried the baby who was just one week old and went to the provincial disease control and prevention review all night. The final result was that the baby drank too little milk in those days, and the metabolites temporarily fluctuated. It was a false alarm. After half a month of tossing, neither the adult nor the child had a good rest.

However, the actual value of this screening cannot be denied. In recent years, many children have indeed discovered problems early through this, such as the most common phenylketonuria. If the child shows symptoms of mental retardation and yellowing of hair before intervention, it will be completely irreversible. If it is detected at birth, special milk powder with low phenylalanine has been eaten since childhood, and when they grow up, they can go to school and work like normal children without any delay.

To be honest, ordinary families don’t have to worry about whether to choose screening packages for more diseases. The 44 regular packages recommended by the local health department are enough to cover most risks. If you have a family history of genetic metabolic diseases, you can just communicate with the doctor in advance to add targeted packages. There is no need to blindly pursue as many disease types as possible.