1.Why should I take the newborn disease screening test? Newborn disease screening is an easy, fast and inexpensive blood spot test. This screening allows early detection of whether a child has a congenital genetic disease and timely treatment for healthy growth. 2. Is screening for newborn diseases a new prevention and treatment measure? As early as 1962, the United States began screening newborns for diseases. With the development of medical technology, more and more diseases can be checked by this means. China is now included in the “Mother and Child Health Law of the People’s Republic of China”, a major initiative to improve the quality of our birth population, in line with the good wishes of the general public, especially young couples, deserve the support and cooperation of all. 3.How many kinds of diseases can be checked in newborn screening? Generally speaking, newborn screening can check for more than 30 kinds of genetic diseases, and the specific types of diseases vary depending on the screening area. However, according to China’s Maternal and Child Health Law, “Health care institutions shall screen newborns for congenital hypothyroidism and phenylketonuria, and provide treatment advice. Screening for congenital adrenocortical hyperplasia is also carried out in some areas. Although most of these genetic diseases are rare, they can be a serious health hazard, affecting development or causing low intelligence in mild cases, or leading to death in severe cases. 4.What is the best time to collect blood for newborn screening? Blood collection should be done after the infant is born for 72 hours and fully nursed, otherwise, false negatives of PKU screening may easily occur in the absence of nursing and protein load. In addition, blood collection after 72 hours of birth avoids the period of physiologic TSH rise, reducing the chance of false positive CH screening and preventing minus negatives in children with delayed TSH rise. For infants who are discharged or transferred early for various reasons and cannot have blood collected after 72 hours, the principle should receive the delivery unit to follow up the above infants for blood collection to improve the coverage of screening, but the time should not exceed 20 days after birth at the latest. 5.The child looks healthy after birth, so is it still necessary to participate in newborn disease screening? Yes, it is necessary. This is because most infants with congenital genetic disorders tend to lack their specific manifestations before screening, and generally the clinical symptoms inherent in the disease do not appear until 6 months of age, and become increasingly severe, all of which will be irreversible. On the contrary, if the disease can be detected shortly after birth and diagnosed and treated, most of the children will have normal physical and mental development, and their intelligence can reach the level of normal people. 6.Is it necessary to participate in newborn screening if there are no children with congenital hereditary diseases in the family? Yes, it is necessary. This is because although these genetic disorders are rare and there is no family history of these disorders, there is a high risk that these consistently healthy families will have children with genetic defects. 7. Does receiving a review notice mean that the child has a certain disease? Not necessarily. There are various reasons for notification of a retest. The most common reason is that the first blood sample was not sufficient to complete the entire test. In order to complete the entire test, blood needs to be taken again. This does not mean that your child has a disease. Of course, it is possible to find something wrong with the first test and not be able to draw a final conclusion, so it is prudent to have to repeat the test. In general, the doctor will only consider a re-evaluation necessary if the repeat test is abnormal. In conclusion, if you receive a review notice, you should take your child for a review as soon as possible so that the diagnosis can be confirmed while your child is still very young. The earlier the treatment, the fewer the sequelae. 8.What should I do if my child really has the disease? Once your child is unfortunate enough to have the disease, the first thing you should do is to keep your mind calm and quickly follow your doctor’s orders for any dietary or other treatment necessary to prevent or alleviate the occurrence of the serious consequences caused by these diseases. 9.When attending screening for newborn diseases, how should I cooperate with the doctor as a parent? If your child is notified of a review, it should be done as soon as possible and should not be disobeyed. This is because if the child is really sick, the review can be confirmed early, which is crucial for the child’s health. If you don’t have a telephone at home, you should give your doctor or hospital the phone number of a relative, friend or neighbor. If a child is born and needs to leave home immediately, you should also inform the doctor and the hospital of your new address and phone number together. This is the only way to enable the doctor to get in touch in case the child needs to be reviewed.