Patient's question:
What are the uses of the infant two-disease screening card?Doctor's answer:
The so-called infant two diseases screening refers to: hypothyroidism and phenylketonuria.Advice: Newborn disease screening refers to the use of laboratory tests to screen each newborn infant for certain serious congenital genetic diseases, enabling early diagnosis and treatment to prevent disabilities and achieve the goals of eugenics and improving the quality of the population. Every parent desires their child to be intelligent and healthy. However, due to various factors or causes, a small number of babies may suffer from certain congenital genetic diseases. Such children appear normal at birth and show no obvious symptoms, making early detection difficult. As they grow older, they gradually show delays in intellectual and physical development, eventually becoming disabled. This not only burdens the child and family but also imposes a heavy burden on society.
However, with the advancement of science and technology, people can detect relevant indicators in newborn blood through laboratory tests to identify diseases early before symptoms appear, providing early diagnosis and effective treatment to prevent disabilities, alleviate concerns for families and society, and allow them to enjoy health and life like normal people. This is what we call newborn disease screening.
Newborn disease screening requires collecting two drops of heel blood from the infant by the hospital's obstetrics department 72 hours after birth, then applying the blood drops to a specific filter paper to form a 1-centimeter blood spot. The blood sample is then sent to a newborn disease screening center for testing. If the screening results are normal, no notification is needed. If the results are positive, indicating a suspected case, the infant's parents will be notified to return to the screening center for a follow-up diagnostic test. Once the child is confirmed as having the disease, treatment should begin immediately.
Congenital hypothyroidism and phenylketonuria are common causes of intellectual disability in children. The damage they cause to brain cells is often irreversible, so treatment must begin before symptoms appear, with earlier treatment yielding better outcomes. To ensure that children receive prompt and early diagnosis and treatment, it is important to provide accurate and detailed contact information (address and phone number) to the hospital's obstetrics department so that they can be notified promptly if needed. When you receive a notification for a follow-up test due to suspected screening results, it is essential to comply with the requirements and return for testing in a timely manner. Do not delay early diagnosis and treatment out of complacency, as this may lead to lifelong regret. If your child suffers from congenital hypothyroidism or phenylketonuria, modern medicine can help manage the condition. With confidence and active cooperation with doctors and adherence to long-term treatment, they can grow and develop normally like other children.
Congenital hypothyroidism is one of the common endocrine diseases in pediatrics. Due to abnormalities in the development and function of the pituitary-thyroid axis during the embryonic period and shortly after birth (e.g., thyroid dysgenesis, absence, or ectopia; impaired thyroid hormone synthesis), postnatal hypothyroidism may occur, leading to severe damage to the central nervous system and physical development. Some children may exhibit symptoms such as delayed jaundice, low body temperature, weak sucking, constipation, and umbilical hernia during the neonatal period. If not treated early, these children may gradually develop intellectual disability, short stature, myxedema, and distinctive facial features (e.g., facial swelling, flattened nasal bridge, wide-set eyes, thick lips, large tongue, tongue protruding outward) as they grow older. Once symptoms appear, irreversible damage to brain cells may have occurred. Therefore, it is crucial to collect heel blood after birth to test for thyroid-stimulating hormone (TSH) levels to detect congenital hypothyroidism early and provide timely treatment, which typically involves oral thyroid hormone therapy.
Phenylketonuria is a rare autosomal recessive metabolic disease caused by mutations in the phenylalanine hydroxylase gene, leading to a deficiency in phenylalanine hydroxylase and its cofactors. This results in the accumulation of phenylalanine and its metabolites in the body, causing irreversible damage to the child's nervous system development. The main symptoms include intellectual disability, recurrent seizures, yellow hair, pale skin, and a musty odor in the urine. Most children show no symptoms in the early stages but may gradually develop these symptoms as they grow older. To prevent brain cell damage, diagnosis must be made before symptoms appear. Therefore, heel blood should be collected 72 hours after birth to test for phenylalanine levels. If the levels are above the normal range, early diagnosis and treatment should be initiated. The only effective treatment currently available is long-term low-phenylalanine diet control.
Doctor's inquiry: We advise you not to panic. If there are any issues, the screening center will contact you. If everything is normal, you will not be notified.