Newborn disease screening

Newborn disease screening is a special survey of congenital and hereditary diseases that seriously endanger health during the newborn period. The core purpose is to diagnose and intervene early before symptoms appear, so as to avoid irreversible intellectual and physical developmental damage in children. It is currently recognized globally as one of the public health intervention measures with the highest input-output ratio.

Many parents may think that my baby cries loudly and has a rosy complexion when he is born, so there is nothing wrong with him. As for having a pricked heel and bleeding? I encountered the most unfortunate case when I was rotating in the neonatology department last year. My parents are both highly educated white-collar workers. After giving birth to the baby, they passed the 4 free screenings. The nurse recommended a tandem mass spectrometry screening for more than 300 yuan and refused, saying that the hospital wanted to make shady money. As a result, the baby's hair gradually turned yellow when he was half a year old. The urine always had a strange rat smell. When I went to the hospital, I was diagnosed with classic phenylketonuria. The best intervention period had already passed. Even if I strictly controlled my diet, my IQ would not be able to catch up with children of the same age. My mother cried in the clinic until she almost fainted. She said that if she had known about the consequences, she would have spent any amount of money to get a diagnosis.

To be honest, newborn screening is like buying an ultra-low-threshold critical illness insurance for a baby who has just arrived in the world. The free item is the basic protection provided by the state, and the self-paid item is the amount of insurance you can add based on your own conditions. Free screening packages are now slightly different across the country. They basically cover phenylketonuria and congenital hypothyroidism, the two most common diseases with the most clear intervention effects. Many places also include favismosis, congenital adrenal hyperplasia, and newborn hearing screening. Including free of charge, the incidence rate of these projects is basically one in thousands to tens of thousands. As long as it is discovered early, the cost of intervention is extremely low and the effect is particularly good - for example, children with congenital hypothyroidism can grow and develop like normal people after being diagnosed with a few cents of Euthyrox a day.

The most controversial topic in the industry right now is "whether it is necessary to conduct expanded screening at one's own expense." Most scholars in the field of public health policy do not recommend that ordinary families blindly do the full package. I once heard calculations from a CDC teacher. The input-output ratio of basic free screening can reach 1:19. That is, for every 1 yuan spent on screening, 19 yuan can be saved in subsequent rehabilitation and medical expenses. , but if diseases with an incidence rate of one in hundreds of thousands and for which there are currently no effective intervention methods are added, it will not only significantly increase the cost of screening, but also tend to produce many "gene variation of unknown clinical significance" results, which will bring unnecessary long-term anxiety to parents. I met a parent before. After thousands of full-exome screening tests, a mutation of unknown significance was found. He took his child to five major hospitals across the country and was anxious for 18 months. In the end, there was nothing wrong with the child, and he got over the depression first.

But on the other hand, most doctors in the pediatric genetics department will recommend that qualified families add several expanded projects with high incidence and clear intervention methods. For example, SMA (spinal muscular atrophy), which has been included in the medical insurance in the past two years, used to be an incurable disease. Now there are specific drugs. If it is screened at birth, the child can go to school and exercise normally if the drug is taken as soon as possible. If the child is six months old and develops symptoms of muscle weakness before diagnosis, the necrotic motor neurons cannot be reversed, and no amount of money can save it. There is also common deafness gene screening, and many children are found to have susceptibility genes for drug-induced deafness. If you remember from an early age not to use aminoglycoside antibiotics such as gentamicin, you can completely avoid the risk of acquired deafness, and it is really cost-effective.

My own advice to friends around me is never that the more expensive the better, the free ones must be done 100%, don’t make any excuses, and choose self-financed projects first with "the incidence rate is not too low, there are clear intervention methods, and the cost of intervention is controllable", such as tandem mass spectrometry screening for a few hundred yuan (can check more than 40 Most of these genetic metabolic diseases can be treated through dietary or drug intervention), SMA screening, and common deafness gene screening are very cost-effective. As for whole-genome and whole-exome screening that costs thousands or even tens of thousands, unless there is a clear family history of hereditary disease, there is really no need to spend such wasteful money.

Oh, by the way, many parents are worried about pricking their children to collect blood from the heel. In fact, it only takes two or three drops of blood. The pain for a short while is really nothing compared to the lifelong regrets that may follow. Don’t panic if the screening results are abnormal. Many positive results in the initial screening are false positives and can be ruled out by re-examination. If the diagnosis is really confirmed, follow the doctor’s advice and intervene early. Most children can have a good prognosis.