Is it necessary for newborns to adopt heel blood? Is it useful for children?

In maternity wards, young parents can often be seen holding their newborn babies. Although their movements are clumsy, they are extremely gentle, and the feelings of love and expectation are beyond words. For every family, the happiest thing is the arrival of a healthy baby. Many parents were puzzled when they were told to take heel blood for newborns regularly and sign the notification of neonatal disease screening. "Our baby has just been born and looks healthy. Why do you have to take heel blood? Is it necessary to adopt? "

1. What is a hereditary metabolic disease? Hereditary metabolic disease refers to a genetic disease with metabolic dysfunction. Data show that this kind of disease has complex manifestations and can cause damage to any organ and system in the body. Children often have no special clinical manifestations in the neonatal period, which is easy to be missed and misdiagnosed.

Once the abnormality occurs, the physical and mental damage is often irreversible, the treatment opportunity is lost, and the mortality and recurrence rate are also high. This disease is one of the main causes of premature death or disability of children.

Second, why do you want to do neonatal disease screening? According to statistics, there are about 80- 1.2 million birth defects in China every year, accounting for 4%-6% of the total birth population, of which 400,000-500,000 children suffer from hereditary metabolic diseases. At present, more than 400 genetic and metabolic diseases have been found, and the prevalence rate of individual diseases is not high, but the population prevalence rate is high.

Most newborns are asymptomatic, and they get sick in infancy. Failure to make timely diagnosis and treatment will seriously damage children's intelligence and physique, and even lead to diseases such as dementia and physical disability, which will bring a heavy burden to families and society. Experts say that if early examination and symptomatic treatment are carried out, it is entirely possible for patients with genetic diseases to get a similar chance of survival as normal people.

Early detection and treatment of neonatal genetic and metabolic diseases is the most important, and the key to early detection lies in timely screening.

3. What is neonatal heel blood screening? Heel blood screening refers to collecting 2-3 drops of blood from the heel of a newborn from 72 hours to the 20th day after birth, so as to screen some serious genetic and metabolic diseases in the neonatal period.

Fourth, how to screen hereditary metabolic diseases? Blood collection should be carried out 72 hours after the baby is born and completely breastfed. Otherwise, false positive of PKU\CH screening is easy to occur.

The professional staff in the delivery room will take blood from the baby's soles within the specified time and send it to the neonatal screening center of maternal and child health care institutions in various regions for testing.

5. What if there is something wrong with the test results? If the test result is negative, the city and county management centers will not be notified generally, and some areas will send text messages with negative test results to parents' mobile phones. Positive or suspected positive cases will be reviewed and fed back to the city and county centers, which should cooperate with the recall (or follow-up), review and diagnosis of positive cases.

After diagnosis, children should be given long-term correct medication or diet control to ensure the social effect of neonatal disease screening.

If a family is diagnosed with problems, some diseases can apply for financial assistance according to local requirements. For example, at present, there are 46 children with genetic and metabolic diseases in Guangdong Province who can apply for assistance.

6. Does receiving the review text message mean that the baby has some kind of disease? Not necessarily. If there is something wrong with the first inspection, it needs to be rechecked. If the value is too high, it is recommended to go to a higher hospital for a definite diagnosis. If you receive the reexamination information, please take your baby to the obstetrics department of the birth hospital for reexamination as soon as possible, so as to diagnose or exclude it as soon as possible.

7. What are the main screening methods at present? Routine examinations include phenylketonuria (PKU), congenital hypothyroidism, congenital adrenal hypofunction, silkworm bean disease, genetic metabolism and tandem mass spectrometry screening.

Not all inherited metabolic diseases are incurable. Many diseases can be effectively controlled as long as they are found and treated in time. After treatment, children can live, study and work like normal people, avoid physical and intellectual disabilities and reduce many family tragedies.