The Purpose of Newborn Screening
Newborn screening is the practice of testing every newborn for certain harmful or potentially fatal disorders that aren’t otherwise apparent at birth. There are a number of potentially devastating diseases that can be present in a newborn but hidden at the time of birth. These diseases, if undetected by newborn screening, have the potential to cause medical problems as the baby grows, and severely alter a life that could have otherwise been normal. One example of such an illness is Phenylketonuria (PKU). PKU is a condition in which the body is unable to break down a building block of Protein (an amino acid) known as Phenylalanine (Phe) because a specific enzyme is lacking or present in levels too low to be effective. When this amino acid builds up in the system it can cause problems with the central nervous system, brain damage, and mental retardation.
On the other hand, when the PKU is discovered through newborn screening, a child can be treated using a low protein diet and special medical foods designed to deal limit the amount of Phe consumed. In most cases this allows the baby to grow up normally, enjoying a life free of mental retardation and central nervous system issues.
Which Tests Are Offered?
Newborn screening tests offered by various labs varies in number of diseases screened by them and is subject to change, especially given advancements in technology. However, the disorders listed here are those usually included in newborn screening programs:
- Phenylketonuria (PKU)
- Congenital hypothyroidism
- Galactosemia
- Sickle cell disease
- Biotinidase deficiency
- Congenital adrenal hyperplasia (CAH)
- Maple Syrup Urine Disease (MSUD)
- Tyrosinemia
- Cystic Fibrosis (CF)
- MCAD deficiency
- Severe Combined Immunodeficiency (SCID)
- Toxoplasmosis
All newborns will also have a Hearing Screening and Critical Congenital Heart Disease Screening (CCHD)
Should I Request Other Tests?
If you answer “yes” to any of these questions, talk to your doctor and perhaps a genetic counselor about additional tests:
– Do you have a family history of an inherited disorder?
– Have you previously given birth to a child who’s affected by a disorder?
– Did an infant in your family die because of a suspected metabolic disorder?
– Do you have another reason to believe that your child may be at risk for a certain condition?
The Screening Process
As far as babies are concerned, the newborn screening process is very simple. A healthcare worker simply draws a few drops of blood by pricking the infant’s heel, usually within 24 to 48 hours of birth. That blood is then sent off to a certified newborn screening lab which analyzes it for a number of disorders including metabolic disorders, hormonal issues, blood disorders, and more. Amazingly, these high-tech labs need only a small sample from an infant in order to run their tests.
Once the screening is completed, the results are sent to the child’s pediatrician. A “normal” result indicates that the infant is not likely to be affected by any of the rare diseases screened for by the lab. An “abnormal” results means that there is an increased risk that the child might have the condition in question. At that point, further testing is required to confirm whether or not there really is a disease present. If the confirmation tests are positive, follow-up and treatment will begin immediately.
Hearing Screenig:
In addition to the blood tests, hospitals screen for Hearing loss before the baby leaves the hospital. If this is not something done, you should still have your baby tested as early as possible. Hearing issues can be isolated, just affecting the ears, or they can be part of more complex conditions. Either way, parents will not know if they don’t have their child’s hearing tested.
How the Test is Performed?
Hearing test. A health care provider will place a tiny earpiece or microphone in the infant’s ear. Another method uses electrodes that are put on the baby’s head while the baby is quiet or asleep.
CCHD screen:
A provider will place a small soft sensor on the baby’s skin and attach it to a machine called an oximeter for a few minutes. The oximeter will measure the baby’s oxygen levels in the hand and foot
No Reason Not to Screen
Newborn screening can quite literally save a child’s life, so there is no reason not to do it. The procedure is very simple and takes only a moment of time to get the blood sample. As far as your baby’s discomfort is concerned, the simple prick of his or her heel is minor in comparison to the lifelong suffering that might be endured if one of these rare diseases is indeed present.
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