Newborn screenings are very important. Whether there is a family history or no palpable reason for concern, the sole purpose is to identify, diagnose, and treat the onset of rare diseases in newborns that may not immediately present symptoms.
Early diagnosis coupled with medical treatment has been proven to prevent serious illness and even death in many cases. Here is some information about the process, what kinds of diseases newborns are screened for, what happens when a newborn tests positive, and more.
Why are newborns screened?
The first few months of life are important in a newborn’s life. There is still a lot of growth and development occurring as babies adjust to existence outside of the womb, such as learning to eat and move on their own. During this critical stage of development, newborns could begin to exhibit symptoms that could alert doctors and caregivers that there may be an issue, but the reality is that many newborns do not. More often, parents will not notice any visible indications of problems with their newborn’s health. Additionally, parents who have already had completely healthy children typically do not expect that they will experience any issues with future children, but a negative screen in a newborn does not guarantee that subsequent siblings will also screen negative. Each of the conditions that newborns are tested for is rare, but there is still a small risk that a newborn could screen positive. All of the diseases screened for can be treated. Screening early means we can catch it, treat the condition, and provide appropriate follow-up, intervention, and necessary support.
What types of diseases are newborns screened for?
There are 45 endocrine and metabolic disorders and critical congenital heart defects, most of which are genetic that are tested for. Cystic fibrosis, sickle cell disease, and hypothyroidism are among the conditions that newborns are currently screened for. It is important to note that babies are not screened for conditions that have an adult onset or those that cannot be treated.
The development of new treatment options means that there are more disorders that hospitals can screen for. Most recently, congenital cytomegalovirus (CMV), a virus that can cause hearing loss and other symptoms in babies, was added to the list.
What is the testing procedure and how do I receive results?
Parents do not need to request testing and have the right to decline if they would like. Testing is conducted by collecting a few drops of blood from the newborn’s heel and is the same for healthy and preterm, or otherwise sick babies. However, if your baby is born early, there a different criteria for when and how many tests may be administered. Full-term babies will receive one test before discharge from the hospital. Premature babies, who often require admission into the neonatal intensive care unit (NICU), will receive several tests over time due to the complexity of the issues that they experience. These babies typically receive their tests at the time of admission, a repeat test within 24-48 hours after admission, and again directly before discharge or after 28 days, whichever comes first. The samples collected are then sent to the lab for processing and results are received by the family’s primary care provider or the care team in the NICU. Parents can also request that results be sent directly to them.
What if my newborn tests positive? What happens next?
It’s easy to feel overwhelmed after receiving the news that your newborn has a positive screen result. However, it’s important to recognize that early identification is essential to treatment. It is okay to feel overwhelmed and to have a lot of questions. Parents should rest assured that a positive screening result is just that: a positive screen. It does not definitively indicate that your newborn will have something wrong, but follow-up is critical. A positive result will sound the alarm—hospital directors, as well as your newborn’s care team and primary care physician, will be notified of your results and begin to determine the next steps; repeat testing and referrals to specialists for additional follow-up will help determine next steps as well as the development of a treatment plan if necessary.
Things you can do as a parent throughout this process:
Identify a primary care provider for your baby before the baby is born. Bring this information with you to the hospital when you go in for delivery:
Provider's Name
Address of his/her primary office
Phone number
Put the information in your hospital bag or store it in your phone so you have it when you need it and be sure that the hospital has your up-to-date contact information before discharge. These steps will be imperative for receiving your newborn’s screening results.
Adapted from: URMC
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