11 Important Pros and Cons of Newborn Screening


In the United States, Europe, and most developed countries, newborn screening is a public health service. The goal is to screen newborns for serious health conditions that may be present at birth. If certain conditions are found during the screening process, then doctors can begin to treat it right away to limit or prevent harmful effects occurring to the child.

Most newborn screening activities occur soon after birth, often while the newborn is still admitted to the hospital. More than 60 screen tests are available, though the ones that are mandated are governed by local health departments.

In the United States, about 1 in 10,000 to 15,000 newborns are affected by PKU every year. When all metabolic conditions are included, about 1 in 2,000 children may test positive on their newborn screening tests.

Here are the pros and cons of newborn screening to think about.

List of the Pros of Newborn Screening

1. It can allow children to live a healthy, happy life.
The most common newborn screening test that is conducted worldwide is for phenylketonuria, or PKU. With PKU, a child does not have an enzyme that is required to use the phenylalanine in their body. This amino acid then continues to build up until it becomes a life-threatening condition. By discovering this condition early, a treatment plan can be created to limit this damage.

2. It discovers metabolic disorders.
Without the heel stick test, there is no early way to discover a potential metabolic disorder that would require immediate treatment. Most health departments in the United States cover 50 of the 60+ potential tests, allowing parents to know if there is a potentially catastrophic issue that needs to be addressed right away. About 5,000 infants are correctly identified as having a serious metabolic disorder in the United States every year because of the newborn screening tests.

3. It doesn’t have to be a painful process.
The heel stick can be painful, though it doesn’t need to be. When a newborn screening is managed well, the child barely notices that the procedure is being completed. It is often recommended that mothers breastfeed or bottle feed their child during the procedure. The foot should be warm and soft to the touch. With some snuggles and care, the heel stick can be completed quickly and the benefits of discovering a metabolic disorder can be obtained.

4. It can pick up family risk factors.
The newborn screening tests can do more than save the life of a child. They can also detect potential family risk factors for conditions that may exist. This process can allow families to plan for their potential medical needs well in advance, know how to manage their risks, and even seek out prenatal diagnostics for future children.

List of the Cons of Newborn Screening

1. It causes discomfort to the child.
Imagine the pain you might experience if you accidentally stepped on a needle or a push pin. That is the same pain that a newborn will experience during the blood draw for the screening tests. Some providers even squeeze the heel to draw the blood, which is a practice that is not required. Although measures are usually taken to limit the discomfort and it won’t be remembered, the discomfort is still present and remembered by the parent.

2. It can create inconclusive results.
For some of the screening tests, the number of false positives that occur can be as high as 90%. It is better to be safe than sorry when dealing with these rare diseases, especially PKU, but the anxiety of a false positive can be devastating. It also causes follow-up appointments and further testing that can be costly to some parents, especially if they are not covered by health insurance. About 200,000 babies in the United States are given a false positive newborn screening result every year.

3. It creates a personal data file for the baby.
We live in a world that is fueled by information. The testing information on a newborn is often collected and stored in the child’s medical file. That information could be used by people with nefarious intent in a number of ways. It could even be used for identity theft, especially if a Social Security number has been assigned to the child in the United States. This can also be a problem if a child is given a false positive result

4. It can be a blood draw that is taken too early.
For some infants, the development of a metabolic disorder can take a few days to become evident. If the heel stick is done immediately after birth, then the results may be inconclusive. Or worse, they could provide a false negative instead. That can lead parents into a false sense of security that may eventually cause irreversible harm to their child, all because the test provided inaccurate results based on its timing.

5. It is often a mandatory test.
In most locations, there is no option for parents to opt out of newborn screening tests. It may even be against the law to not have these tests completed within a certain time, which can be an issue for some home births. The conditions found by these screenings are quite rare and most children will not require any treatment, which means the mandatory test created pain for the sake of information.

6. It can detect carriers instead of an actual disorder.
One of the biggest issues of newborn screening is that it can detect carriers of the conditions being tested for in addition to those affected by the disease. Carriers may not require the same treatment for a happy, healthy life, but would need that information available should they wish to have children one day once old enough. Distinguishing between carriers and those with the disease can be difficult and may result in unnecessary treatments.

7. It may not affect certain genetic profiles.
Finland does not test for PKU because their genetic profile does not include mutations or changes to genes that can cause the condition. PKU is not very common in people with Asian, Hispanic, or African ancestry either. In the United States, those with Native American or European ancestry are the most commonly affected by the condition.

The pros and cons of newborn screening often focus on the fact that this process can save a child’s life. Most of the negatives can be managed rather effectively, though a false negative may delay treatments and that could cause harm to the child. Even then, however, the newborn is slowly on their way to recovery, which would not be possible without the testing information.