Information on the Newborn Screen
What is the Newborn Screen?
The newborn screen is a blood test on your baby to check for inborn errors of metabolism that your baby might have. Over 50 different disorders are tested for,
including:
§ amino acid disorders (e.g. Phenylketonuria (PKU))
§ organic acid disorders,
§ fatty acid oxidation disorders,
§ Congenital Adrenal Hyperplasia,
§ Congenital Hypothyroidism,
§ Cystic Fibrosis
§ hemoglobinopathies (e.g. Sickle Cell disease),
§ Galactosemia
§ Biotinidase Deficiency
Why is the Newborn Screen done (and what are the benefits of screening)?
The Newborn screen tests for all of these disorders because these disorders can cause your baby severe problems such as mental retardation, illness and death if they are left untreated. While these disorders are rare, they are treatable. Discovering them and treating them early means that harmful effects may be avoided.
What is the chance that my baby will have one of the disorders that are being tested for?
The chance that your baby will have one of the listed disorders is small. If there is a confirmed family history of one of the disorders included in the panel, you should alert your physician, as this may increase the risk for that particular disorder.
Approximately 60 (out of 65,000) babies in MN each year are born with one of these conditions.
How is the test done?
The newborn screen is typically done in homebirth settings at the 3-day postpartum home visit. The test involves a heel-stick on the baby and collecting the blood on a card from the MN Department of Health. In the hospital the test is usually done when the baby is 24 hours old. The hospital does this test at this time because most people are discharged from the hospital at around 24 hours. In fact, testing done at 24 hours may not be accurate because the baby has not had food in his/her system for long enough.
What are the risks of the test?
There can be pain at the puncture site for the baby, possible risk of infection, excessive bleeding, bruising at puncture site.
What is the risk of doing nothing?
The main risk of doing nothing is that your baby might have one of these disorders and you would not know and so could not treat the problem. These disorders are not necessarily genetic so you might not know that your baby was at risk. Also, if your baby has one of these problems you might not know until irreversible signs and symptoms show up.
What are the limitations of NBS?
To understand the limitations of the newborn screen, it is helpful to first understand the difference between a “screen” and a diagnostic “test”. The newborn screen is a “screen” and therefore checks for markers of the disorders. If the screen comes back positive, further diagnostic testing will be required to accurately say if your baby has one of the disorders.
As for all medical procedures, there are limitations to newborn screening. This screen cannot detect all inborn errors of metabolism; it may fail to identify some affected children, it may flag some normal babies as "screen positive" (resulting in further testing) and it could possibly detect some conditions for which treatment is of uncertain benefit.
Additionally, there are some forms of the diseases listed above that may not show laboratory abnormalities at the time of screening. Therefore, if a child exhibits symptoms of a metabolic disease, even after a normal newborn screen, the child should be referred to a metabolic specialist for evaluation.
Can I choose to not have the Newborn screen done? You as a parent in MN have the right to refuse any testing or procedures done to your baby.
References: MN Dept. of Health, Information on Newborn Blood Spot Screening from: http://www.health.state.mn.us/divs/fh/mcshn/nbshome.htm