Newborn screening is the test implemented on newborns to detect early diseases and metabolic disorders. Thanks to that, we will have timely treatment for the baby, limit physical and mental disorders. This helps to reduce the infant mortality rate, as well as the burden on the family and society.

Compared with conventional newborn screening, the genome-based newborn screening test is now highly appreciated. Newborn screening on genomes accompanies and supports biochemical tests, bringing a lot of useful information to children’s family.

The genomic newborn screening is a test that is based on genetic material or DNA. Next generation sequencing helps discover disease-causing mutations related to genetic disorders.

This test is superior to conventional newborn screening because of the following advantages:

• The test checks for mutations on 160 genes, thereby detecting more than 70 diseases. This minimizes the possibility of birth defects in babies.
• The test results determine the cause of the disease, early detect the disease even when there are no symptoms.
• The accuracy of the test is extremely high, because DNA is the genetic material.
• Instead of taking heel blood like a normal test, genetic testing can use umbilical cord blood, avoiding pain for the baby.

Currently, genomic newborn screening tests are recommended by experts to parents for newborns. This is a way of early intervention to ensure that children can develop mentally and physically.

Now, CHEK Genomics is a leader in the medical field performing newborn screening tests on genomes. As soon as parents have a need for services, please contact CHEK Genomics immediately for the best support.

Newborn screening is essential for early detection of inherited metabolic disorders in children. These diseases are extremely dangerous for children, even causing death if not promptly detected and treated.

Therefore, experts recommend that babies should have newborn screening tests to:

• Early detect rare diseases, counsel more measures to get timely treatment right after birth.
• Help to give your baby a better quality of life, prevent serious complications, and ensure your baby develops in the best way.
• Bring useful and timely pathological information to doctors in diagnosis, as well as provide timely treatment directions.

When should we take newborn screening?

Newborn screening should be done from the moment the baby is born. In case, if mothers give birth to babies at facilities that are not qualified for testing, CHEK Genomics staff can come to assist in collecting samples for babies.

If after 48 hours after birth, the newborn screening sample has not been taken, will the results be accurate?

For newborn screening on genomes, there is no set time period for taking samples. Parents can have their baby have this test as early as possible (at birth) or when the baby is older.

Most newborn screening tests in our country are biochemical tests taking a baby’s heel blood within 48 hours of birth. This is to detect 3 diseases related to metabolic disorders including:

G6PD Deficiency

G6PD enzyme protects red blood cells against oxidizing agents. If the G6PD enzyme is lacking, red blood cells are less stable and susceptible to damage by oxidizing agents. If children have a severe G6PD deficiency, they might get brain damage, retardation or death.

Congenital hypothyroidism

Congenital hypothyroidism is a kind of disease that a child is unable to produce or produce very little thyroid hormone. Thyroid hormone is essential for the development of the brain and body.

During infancy, thyroid hormone plays a very important role. Children with congenital hypothyroidism will have these following manifestations: children become sedentary, jaundiced, purple and dry skin, large abdomen, thick and big tongue, digestive disorders, mouth always open, short neck, slow development.

If the disease is detected early, there will be early treatment methods, improving the rate of complete recovery for the baby.
And many other genetic diseases are common in children.

Congenital Adrenal Hyperplasia (CAH)*

CAH is a genetic disease, children with this disease often have early puberty or masculinization in girls, slowing down intellectual development in young children.

Newborn screening produce results with high accuracy.

However, the accuracy of biochemical tests is not high, because they are determined based on the levels of organic substances, fats, amino acids and hormones in the blood.

These concentrations will change depending on the time, as well as the developing stage of the child. The birth of the genome-based newborn screening test method has completely overcome the disadvantages of biochemical test.

Genome-based screening provides greatly useful information for children. This is a test based on genetic material or DNA, thereby helping to detect disease-causing mutations related to genetic disorders by applying a new generation sequencing method.

If the results of biochemical tests still exist some restrictions, because the disease can only be determined based on biochemical indicators, the newborn screening test provides more results than detecting the disease.

To get this test, parents should contact CHEK Genomics to perform the screening in the best and most secure way.

The required specimen will be 1.5ml of the baby’s umbilical cord blood or venous blood (in case it is not possible to collect the sample at birth).

This result means that the baby is carrying a certain gene abnormality.

From there, the doctor will have in-depth testing methods to give accurate results and the most effective treatment plan for your baby.

If the child is a carrier of disease-causing genes, this will be a reference database for future children’s marriage, avoiding the case of genetic diseases for children, as well as predicting the risk of disease for future generations.

If the baby is your first child and you are still planning to have a baby later, you should do a carrier screening test to learn more about your carrier status to plan for your baby.

This result means that the baby is carrying a recessive gene causing an inherited disease. Your baby may have no symptoms or very mild symptoms. Parents need to consult with a doctor to have methods to adjust the diet or manage the health for the baby.

Right. If the test shows that your baby does not carry the gene mutation, it means that your baby is not at risk of genetic diseases. Hence, parents can be secure to take care of their baby.