Neonatal genetic metabolic disease screening

Collecting three drops of peripheral blood from the heel 72 hours after birth and after six or more breastfeeding sessions can conduct general screening for a group of genetic metabolic diseases that have no obvious abnormal symptoms in the early stage, but if delayed treatment will cause irreversible damage to intelligence, growth and development. With early detection and early intervention, more than 95% of children can avoid severe disability and have a quality of life that is no different from normal children.

I previously worked in the maternal and child health care hospital's new screening clinic for half a year. What impressed me most was a review day in late spring last year. Ms. Chen, who lives in a suburban county, carried her 1-year-old son to draw venous blood. The little boy grabbed the corner of my white coat and shouted "Auntie". He ran and swayed. It was completely impossible to tell that he was a child diagnosed with phenylketonuria 3 days after birth. “When I first received the call that the screening test was positive, I cried all night, thinking that I would have to raise a stupid child in this life. Now it seems that those three drops of blood really saved my whole family. ”When Ms. Chen said this, she was still holding the original screening report in her hand, and the corners were frayed.

Nowadays, many parents are confused when they go to get a screening form: Why are there free ones and self-paid ones? The price ranges from a few hundred to more than a thousand, and the types of diseases examined range from 4 to more than 100. How do you choose? There is really no unified standard answer in this industry. Scholars of public health policy research prefer to promote basic free packages. Currently, free new screening in most areas of the country includes phenylketonuria, congenital hypothyroidism, glucose-6-phosphate dehydrogenase deficiency (also known as favismosis), and congenital adrenal hyperplasia. They are all diseases with relatively high incidence rates, mature intervention pathways, good prognosis, and the highest input-output ratio. As for many diseases included in the more expensive self-funded screening packages, the incidence rate is only one in hundreds of thousands or even millions. Many of them do not have mature intervention programs, and screening out will cause unnecessary long-term anxiety for parents. However, most front-line genetic and metabolic doctors will recommend that families with financial conditions allow families to choose screening packages for as many diseases as possible. I used to go to the clinic with Director Li from the pediatric genetics clinic and met a child with propionic acidemia who was only diagnosed at 6 months old. The parents initially selected the free basic screening, but this disease was not included. When the disease was discovered, By then, the child has already suffered irreversible brain damage. "If this disease is diagnosed at birth, as long as the protein intake is controlled and L-carnitine is regularly supplemented, the child can grow up normally. Just because this item is missed, the child's life will be ruined. For this family, how can the screening fee of more than 1,000 yuan be worth the life of the child?" ”

To be honest, "Both of us are healthy and there have been no children with problems in our family, so we definitely don't need screening." This is the most common misunderstanding I have heard. This idea is quite wrong. The vast majority of inherited metabolic diseases are autosomal recessive. When both spouses are carriers of the disease gene, they will not have any symptoms, but there is a one-quarter chance that their children will develop the disease. I met a couple before who both graduated from top universities. They rarely even caught colds. When the eldest son was born, they didn’t take it seriously and chose the cheapest screening. As a result, the child had frequent convulsions when he was six months old and was found to have methylmalonic acidemia. Later, when the second child was born, they went through the most comprehensive screening and prenatal diagnosis. Now the second child is healthy, but the eldest child is now unsteady in walking because of the late discovery. By the way, there are still many parents who are afraid that the heel blood test will hurt their children and secretly escape the screening. I have met more than one who said, "I feel bad for the child crying. Anyway, our family has no medical history, so it will be fine if we don't check." To be honest, this kind of fluke mentality is really not good. Three drops of blood will not hurt for a minute. If something goes wrong, it will be too late to regret.

Interestingly, in the past two years, many institutions have begun to launch new screening and genetic sequencing packages, with prices ranging from a few thousand to tens of thousands. This area is more controversial than the selection of screening packages. Opponents believe that the genetic data of newborns is extremely sensitive, and the risk of leakage is very high. Moreover, human understanding of genes is still very limited. The clinical significance of many detected genetic mutations is not clear at all, which will only cause trouble for parents. Previously, a parent came to inquire with a genetic report, saying that her child had a genetic mutation and might suffer from a certain rare disease. She was so scared that she couldn't sleep every day. She checked with several experts, and they all told her that there was no clear evidence of the mutation causing the disease. She was anxious for more than half a year. Those who support it believe that now that genetic data storage standards are becoming more and more complete, doing a gene sequence early is equivalent to saving a lifelong "genetic ID card" for the child, which can save a lot of trouble later, whether it is taking medication for illness or diagnosing rare diseases.

A few days ago, I had dinner with Director Wang, who has been doing screening for 30 years. He said that he has been in this business for a long time and has seen too many children who were saved because of early screening and too many families who were ruined by missed screening. In fact, there is no need to worry about whether to choose the expensive one or the cheap one. The four basic items are free for the country. After decades of verification, it is the most cost-effective and a must-do. Self-funded projects are based on your own financial conditions. If you really encounter the one in hundreds of thousands chance, the medical insurance policy for rare diseases is becoming more and more complete, and most of them can be reimbursed, so don’t be too anxious. To put it bluntly, the essence of Xinsi is to spend a little money to buy a solid future for your children. This account is cost-effective no matter how you calculate it.