What are the newborn disease screening items?

Many parents do not have much experience in taking care of children and do not know how to provide their children with a relatively stable living environment. Children are more susceptible to various diseases, so they must go to the hospital for regular check-ups. Here we will introduce what newborn disease screening programs are available.

1. Object

All live-born newborns within 72 hours of birth (with at least 6 to 8 feedings).

2. Content

The types of diseases screened vary depending on race, country, region, and are also related to each country's social, scientific and technological development, economic level, and the degree of disease harm.

The internationally recognized conditions for screening diseases are: ① a certain incidence rate; ② lack of special symptoms in the early stages; ③ serious harm; ④ treatable; ⑤ reliable screening methods suitable for large-scale implementation.

A conference held in Europe in 1974 recommended 20 diseases for screening, including phenylketonuria (PKU), maple syrup urine disease, histidinemia, galactosemia, etc. In 2006, the American College of Medical Genetics Newborn Screening Expert Group evaluated the severity of 84 existing congenital diseases in newborns. Based on screening technology, diagnosis, differential diagnosis and treatment, they were divided into the first category of 29 primary screening diseases, the second category of 25 secondary screening diseases and diseases that are difficult to screen at this stage.

At present, the diseases screened in my country are still mainly phenylketonuria (PKU) and congenital hypothyroidism (CH). Some regions choose to screen for diseases such as glucose-6-phosphate dehydrogenase (G6PD) deficiency based on the incidence of the disease, or begin to try tandem mass spectrometry technology for newborn screening of other rare genetic metabolic diseases such as amino acids, organic acids, and fatty acids.

The above are the screening items for newborn diseases. Only after mastering these inspection items can we detect the disease and adopt more reasonable methods for treatment. The above cameras hope to help all parents, and we also hope that all babies can have a healthy body.