Critical Congenital Diseases Screening Tests

Global birth prevalence of all-cause IEM to be 50.9 per 100 000 live births. In many genetic and metabolic disorders, symptoms don’t begin until days or weeks after an infant is born. By the time symptoms appear, damage may already have been done to the nervous system, kidneys, vision, hearing, and other body systems. That's why early detection of these serious disorders in all infants is very important. Diagnosis and treatment of these disorders can reduce the risk of disease, disability, and even death.
 

Screening is quick and safe. A few drops of heel blood will be taken and collected onto blotting paper.
 

Early testing is important which is why this test is preferably performed when your baby is between 48 and 72 hours old. 
 

Results are usually ready within 7-14 days after the sample is collected. If there are results that indicate the need for further testing, the results will likely be available within a few days. 
 

When the results of the test are available, our health professional will inform and discuss the results with the parents if the reuslts are abnormal. If the reults are normal, a scanned copy will be sent to the parents via email in advance, then the original results will be handed to the parents when the baby revisits.

Make sure that our hospital and doctor have your correct address and phone number.

 

Some babies may need another blood test. The reasons for this may include the following:

•You leave the hospital before the baby is 24 hours old.

•Not enough blood or urine was collected for the first test.

•The results of the first test are not clear.

•The results of the first test show a possible health problem.

Retesting does not necessarily mean that your child will have a health problem.

If your baby needs to be retested, get it done right away.

 

You will be contacted if your baby needs any additional testing. It is very important that you get these tests done to make sure that your baby is healthy. If your baby is sick, treatment may be needed right away. If you need more information, please call our hotline to be supported. 

 

Currently, 3 packages are provided:

-Basic package: 6+ common inborn errors

-Intensive package: 66+ inborn errors

-Advanced Babygene package: detecting 72 common genetic diseases through analysis of associated 109 genes with new genome sequencing techniques