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What is Newborn Screening?

Newborn screening is a special blood test for newborns. Just a few drops of blood from your baby’s heel are put onto a special test paper and sent to NBS Lab in Potchefstroom to be tested. Newborn screening finds babies who may have a hidden disorder that needs early treatment.

What are "hidden" disorders?

Hidden disorders are health problems that are difficult or impossible for you or your baby’s doctor to find just by looking at your baby. If not treated, these disorders can lead to slow growth, severe illness, brain damage, or possibly death. Early treatment can help prevent some of these serious health problems.

When should my baby be tested?

Pamphlet - pregnancy

Why must my baby be screened?

Screening is desighed to identify babies with the highest risk of certain disorders.  Screening aims to identify babies with these disorders before they develop symptoms to ensure that treatment commences as soon as possible.  Early treatment can improve the health of babies with these rare disorders e.g. some severe mental disability can be prevented.

Can I say "no" to the test?

As a parent, you may refuse newborn screening for your baby only if your religious beliefs and practices do not allow this testing.

Is the test safe?

The test is simple and safe. Some babies cry when their heel is pricked, but the discomfort lasts only a short time.

How will I know the results of my baby’s screening test?

Your baby’s doctor will receive a report with the test results. Ask about these results when you take your baby in for a regular check-up.

What if my baby's test is abnormal?

If the test is abnormal, you will be contacted within a few days after you leave the hospital. If your baby’s newborn screening result is abnormal, your doctor will talk with you about the next steps to take. An abnormal newborn screening result does not mean that your baby has a disorder. This is a screening test that finds babies who may be at risk for a disorder. Further testing must be done to find out if your baby has a disorder and needs treatment.

Why do some babies need to be retested?

There are two main reasons why a repeat screening test may be needed:

(1) there was a problem with the way the first blood sample was collected

or

(2) the test result was abnormal.

To repeat the newborn screening test, a new blood sample is needed from your baby. The newborn screening test is most accurate if your baby’s blood is taken after the first 24 hours of life. If your baby’s blood was collected before 24 hours of age, your doctor may ask you to repeat the test when your baby is 1 to 2 weeks old.

How can I help my baby?

  • Make sure your baby is tested before you leave the hospital.
  • Leave your correct address and phone number with the birth hospital and your baby’s doctor. If you do not have a phone, leave the number of a friend or relative who can find you.
  • If your baby’s doctor asks you to bring your baby back to repeat the newborn screening test or for further testing, do so as soon as possible. It is important that testing be done right away.


How are the disorders treated?

Each disorder is different. Some are treated with a special diet and others with medicine. If treated early, many babies grow up to lead a normal, healthy life. In a few cases, the disorders may not be completely treatable. Early diagnosis and treatment will allow your baby the best chance of normal growth and development.

How much does the newborn screening test cost?

To learn the current cost of the newborn screening test, contact the Newborn Screening Coordinator  (see contact details)

 


 

AMPATH in association with the Scientists at the School of Biochemistry at the Potchefstroom Campus of the North West University is offering these NBS tests to all our clients countrywide. The Scientists of the School of Biochemistry are well known for their expertise and many years of experience in the field of IEM. They have been involved in the IEM research field since the early 1970's. The School of Biochemistry also has a formal relationship with the University of Amsterdam to assist in IEM diagnosis and research.


PANEL OF TESTS

The NBS laboratory makes use of very sensitive tandem MSMS technology when screening for IEM.

More than 20 different diseases will be screened for including:
Amino Acidopathies
    Phenylketonuria and other Hyperphenylalaninemias
Tyrosinemia
Maple Syrup Urine Disease
Homocystinuria
Hypermethioninemia
Citrullinemia and Other Urea cycle Disorders
   
Organic Acidopathies
    Glutaric aciduria
Propionic acidemia
Methylmalonic acidemia
Isovaleric acidemia
Other organic acidopathies
   
Fatty acid oxidation and Ketogenesis defects
    SCAD, MCAD, LCHAD, VLCAD, and other defects
     
Other defects that will be screened for using different technology will be:
Congenital Adrenal Hyperplasia
Cystic Fibrosis
Galactosaemia
Congenital Hypothyroidism
 
   
 
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