NBS is a system that helps tell whether your baby is at has a higher risk for having a disorder for which early treatment or management can prevent intellectual disability, physical disability, or even early death. The screening involves a blood test better known as the heel-stick test. NBS is usually performed when your baby is 24-48 hours old.
Yes, although this can be misleading. When newborn screening first began back in 1965, the only disorder screened for was Phenylketonuria (PKU). Some health professionals will still refer to the newborn screen as the “PKU test” even though newborns are screened for PKU and more than 50 other disorders.
Most babies with the disorders included in newborn screening look and act normally and seem perfectly healthy. Newborn screening helps alert health care providers about a possible problem with your baby before it causes illness. Most babies who are diagnosed early and treated promptly do well. The earlier the disorder is detected, the higher the chance of having a good prognosis.
Parents who have no family history of these conditions and/or who have already had healthy children can still have children with these conditions. In fact, most children with these conditions are born into families with no history of the condition.
The test is performed by pricking your baby’s heel and putting a few drops of blood on a special filter paper. The paper is allowed to dry and then sent to the newborn screening laboratory where several different tests will be performed.
During New born screening process, blood is collected from their heel onto a card (see a picture of a blood spot card below) and used for screening tests. These cards also record some personal information including the baby’s name, mother’s name, baby’s date of birth, address, and contact details of the GP.
The blood test is generally performed when a baby is 24 to 48 hours old. This timing is important because certain conditions may go undetected or you may get false positive result, if the blood sample is drawn before 24 hours of age. If the blood is drawn after 48 hours of age, there could be a life-threatening delay in providing care to an infant that has the condition. This precaution ensures that parents and health professionals have the most accurate results.

Ideally, the newborn hearing screen should be performed before the baby leaves the hospital.

No, there is no need to wait for a baby to be on milk feeds prior to newborn blood spot screening. In the past, confusion has existed around the need to wait until a baby has had sufficient milk feeds to ensure accuracy of the Phenylketonuria (PKU) screening result. Research suggests that this is an unnecessary delay, as milk feeds do not significantly alter the screening result. Delaying can increase the risk of screening not being carried out on that particular baby.
Most babies experience some brief discomfort from the heel stick, but it heals quickly and leaves no scar. The following suggestions may help make the screening experience more comfortable for you and your baby:

  • Nurse/feed the baby before and/or after the procedure.
  • Hold the baby during the procedure.
  • Make sure the baby is warm and comfortable during the procedure.

Studies show that when mothers or health professionals comfort babies during the heel stick, the babies are less likely to cry.

The tests for newborn screening belong to three broad categories:

Biochemical assays:

  • Congenital Hypothyroidism (CH)
  • Congenital Adrenal Hyperplasia (CAH)
  • Galactosemia (GAL)
  • Phenylketonuria (PKU)
  • Glucose-6-Phosphate-Dehydrogenase Deficiency (G6PD Def.)
  • Maple Syrup Urine Disease (MSUD)

Tandem Mass Spectrometry (TMS) based assays:

  • Amino acid disorders
  • Fatty acid disorders
  • Organic acid disorders

Hemoglobinopathies:

Disorders of haemoglobin structure and function

Parents will learn if their baby’s newborn screening result is out of the normal range from their baby’s health care provider. An abnormal newborn screen result does not necessarily mean your baby is ill. It may occur because the blood sample was collected too soon after birth, not enough blood was obtained, or your infant did not have enough breast or bottle feedings prior to the testing. However, sometimes an out-of-range result indicates a serious, but treatable, health problem. It is important for parents to follow up with the baby’s primary healthcare provider immediately to learn the cause of the out-of-range result.
You will be contacted if your baby needs additional testing. This does not mean that your baby is sick. Your baby may need some more tests. Your baby’s health professional will let you know what tests are needed and how to get them. 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.
There are two main reasons why a repeat screening test may be needed:

  • There was a problem with the way the first blood sample was collected; OR
  • 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.

Your baby’s health professional will contact you if your baby needs to be retested. They will tell you why the baby needs to be retested and what to do next. A retest does not mean that your baby is sick, but more testing needs to be done to be sure that your baby is healthy. If your baby needs to be retested, get it done right away.
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.
No. Just as eye color or height cannot be changed, disorders of body chemistry cannot be cured. These disorders are caused by “mistakes” in the genes that cannot be corrected. However, the serious effects of many of these disorders can be prevented or lessened if a particular diet or medication is started early.
New Born screening at birth is mandatory in most developed countries.
Babies who are premature, unwell, or have had blood transfusions should all have the newborn blood sample taken as usual between 5 and 8 days of age AND this information recorded on the blood spot card. It is very important that the test is taken at the usual age so there is no risk of a baby going untested. If a baby is born at less than 32 weeks an additional test is needed for congenital hypothyroidism at 28 days of age or discharge home from hospital, whichever is sooner.
Screening of older children may be beneficial; however, this should be discussed with your baby’s caregiver.
Newborn screening is just the first step in determining whether a baby has a condition. If a screening result is outside the typical range, diagnostic testing must be done to confirm the condition.