The role of newborn blood screening

The birth of every child always brings endless joy and happiness to the family, but what many parents worry about most is their children's health. Newborns will have their foot blood drawn for examination after birth, which can effectively check whether the fetus has mental retardation and other diseases. However, many parents are always particularly distressed for their babies. They think that their babies have had blood drawn just after birth, and they are always very worried that it will cause harm to the babies. Let's learn about the role of newborn blood screening.

The role of newborn blood screening

Newborn screening is an effective method for preventing and treating certain genetic diseases after birth. It is usually done using a smear of umbilical cord blood or heel blood. Newborn screening is usually performed by taking a smear of cord blood or heel blood three days after the baby is born. Newborn screening refers to the use of rapid and sensitive laboratory methods to screen newborns for genetic metabolic diseases, congenital endocrine abnormalities and certain serious genetic diseases. Its purpose is to screen sick newborns before clinical symptoms appear or when symptoms are mild, so as to obtain early diagnosis and early treatment and prevent irreversible damage to the body's tissues and organs. Prevent children from developing mental retardation, serious illness or death.

Genetic metabolic diseases are mainly divided into: chromosomal diseases, macromolecular diseases, and small molecule diseases. Chromosomal diseases include: Prader-Willi syndrome, Angelman syndrome, Digeorge syndrome, etc. Macromolecular diseases include: Fabry disease, Gaucher disease, Pompe disease, MPS I, etc. The incidence of these diseases is relatively high, and biochemical methods are required for enzyme activity detection. This method is difficult and has high detection costs. Small molecule diseases include organic acid, amino acid, and fatty acid metabolic diseases, which are mostly detected by liquid chromatography-tandem mass spectrometry (LC-MS/MS), which is easy to detect and has relatively low testing costs.

Phenylketonuria is a disease caused by the lack of phenylalanine hydroxylase in the body, which makes it impossible for the body to metabolize phenylalanine. In this way, phenylalanine will accumulate in the body, causing damage to human organs, especially the brain, seriously affecting the child's intelligence. If it can be discovered early and low-phenylalanine milk powder is used to replace regular infant milk powder or breast milk, the accumulation of phenylalanine in the body can be avoided, thereby preventing brain damage.

Congenital hypothyroidism is a disease caused by congenital thyroid dysfunction, which is caused by the inability to produce enough thyroid hormone, resulting in the stunted development of human organs including the brain, and developmental delay with idiocy as the main manifestation. Early and reasonable supplementation of thyroid hormone tablets can avoid damage to the human body.

There are also some reasons that can lead to impaired development of the hearing system. Congenital hearing loss can lead to secondary pronunciation disorders and congenital deafness. If discovered early (preferably within 6 months of birth), hearing aids or cochlear implant surgery can be used early. These measures are very helpful in improving pronunciation disorders.

The above is an introduction to the role of newborn blood screening. After understanding it, we know that newborn blood screening can generally detect some congenital diseases of newborns, so that timely treatment can be carried out, the disease can be well controlled and treated, and blood tests can also have very accurate test results.