Role and advantages of newborn screening by Gen . test

The article was written by Doctor Bui Thi Phuong Hoa - Genetic consultant doctor - Vinmec High-Tech Center

There is a national newborn screening program for some basic diseases by biochemical methods. However, this test is only a screening test and for only three diseases. Genetic testing methods are currently being widely used, with many outstanding advantages.

Most diseases are usually asymptomatic from birth, especially metabolic diseases.
Often unknown or family history If abnormalities are detected early, there will be early treatment and management interventions, thereby bringing good results When symptoms appear, often disease has already arrived late stage, sometimes can be life-threatening

Currently, newborn screening is mainly based on biochemical indicators, with the advantages of low cost, relatively good sensitivity, and easy mass application. However, this method has some limitations that will be solved by genetic testing.
The genetic material (DNA) does not change, so it is a stable source of testing. In comparison to traditional testing, these indicators change and can cause false positives or false negatives. Traditional tests are just basic screening tests, so follow-up genetic testing is still needed if an abnormality is suspected. Genetic testing helps detect diseases with late manifestations, providing more useful information for clinicians in the examination and management of children's diseases.

Intensive test package to detect abnormalities on 101 genes related to 71 diseases that are recommended to be screened in the neonatal period by health organizations around the world: for example, metabolic disease galactosemia, phenylketonuria or disease thalassemia congenital hemolysis. 73% of these are treatable if caught early. Heel blood collection is simple and easy. Blood collection service is provided at home, which is convenient for babies and mothers during the tiring period. Be consulted before and after the test by a team of experts. The consultation fee will be waived if the baby has the test. Vinmec International General Hospital is one of the hospitals that not only ensures professional quality with a team of leading medical professionals, a system of modern equipment and technology. The hospital provides comprehensive and professional medical examination, consultation and treatment services, with a civilized, polite, safe and sterile medical examination and treatment space. Customers when choosing to perform tests here can be completely assured of the accuracy of test results.