This is an automatically translated article.
The article is expertly consulted by MSc Nguyen Cong Canh, Head of Pediatrics - Neonatology Department, Vinmec Danang International General Hospital.
Around the world, 8 million babies are born with birth defects each year. Newborn screening programs aim to detect metabolic disorders in babies early, help prevent dangerous complications, and give babies a normal, healthy life.
1. What is a newborn screening test?
Newborn screening tests are tests performed in newborns to screen early for diseases and metabolic disorders, so that timely treatment can be taken to limit physical and mental disorders. , reduce neonatal mortality and reduce burden on families and society.
2. How is newborn screening performed?
From 3-7 days after birth, the medical staff will take a few drops of blood from the baby's heel and then blot it on blotting paper or take venous blood to conduct screening tests.
Venous blood test: helps to screen for hypothyroidism, G6PD deficiency and congenital adrenal hyperplasia. Neonatal heel blood test : allows quantification of TSH levels for early screening for congenital hypothyroidism . The test using heel blood is less accurate than venipuncture.
Xét nghiệm máu ở gót chân trẻ sơ sinh
3. Currently recommended newborn screenings
3.1 Deficiency of G6PD enzyme G6PD is an enzyme that plays an important role in biochemical reactions in red blood cells, helping red blood cell membranes to be stable against oxidizing agents. Deficiency of G6PD enzyme will make the erythrocyte membrane less stable and prone to rupture, leading to hemolysis and simultaneous release of bilirubin. Newborns have immature liver function, unable to fully metabolize the released bilirubin, thus causing prolonged jaundice in the baby. If not treated promptly, excess bilirubin will cause brain damage and leave severe sequelae such as mental retardation and motor retardation.
3.2 Congenital Hypothyroidism Congenital hypothyroidism is a condition in which an infant's thyroid gland does not produce enough hormones to meet the baby's needs. Congenital hypothyroidism is a disease that directly affects a child's growth and development, both physically and mentally. However, if detected and treated early within the first 2-3 weeks after birth, the baby can still develop healthy and normal. If detected too late, treatment will be less effective due to psychiatric complications and irreversible hormone deficiency.
3.3 Congenital adrenal hyperplasia Congenital adrenal hyperplasia is an inherited condition and occurs due to a disorder in the production of hormones by the adrenal glands in children. The consequences of this pathology are disorders in sexual and genital development. Girls with this condition have gradually virilized genitals due to increased production of the male sex hormone androgen by the adrenal glands. Therefore, it is extremely important to take blood and screen for disease within 24-72 hours after birth, to help timely treat and limit deviations in sex development in children. 17-OHP test is gold standard for the diagnosis of adrenal hyperplasia. 17-OHP is the raw material for the synthesis of cortisol. When 17-OHP levels are high, the risk of congenital adrenal hyperplasia in children is very high.
3.4 Congenital hearing loss Congenital hearing loss occurs due to damage to the hearing organs while in the womb or during childbirth. Hearing not only plays an important role in the ability to listen and read, but also is the basis for cognitive development, communication skills, and learning in children. Screening for early detection of congenital hearing loss helps in timely intervention and treatment.
4. Newborn screening program in Vinmec
Bệnh viện Vinmec cung cấp đầy đủ các xét nghiệm giúp sàng lọc sớm các bệnh lý phổ biến ở trẻ sơ sinh
Vinmec International General Hospital provides a full range of tests to help screen early common diseases in babies. Screens at Vinmec include:
G6PD enzyme deficiency test Quantitative test of TSH , T3, T4 to diagnose congenital hypothyroidism 17-OHP test to diagnose congenital adrenal hyperplasia. The above tests are part of the Maternity package at Vinmec (except for the labor package and the Hearing Screening test which is not included in the maternity package). Customers who register for Maternity Package at Vinmec will be fully tested, prenatal care - during and after birth for both mother and baby. In addition, the hospital still provides newborn screening service for customers who are not registered to give birth at Vinmec but have a need.
Please dial HOTLINE for more information or register for an appointment HERE. Download MyVinmec app to make appointments faster and to manage your bookings easily.
