FAQs-Newborn Bloodspot Screening
Pregnancy can be a very exciting and an overwhelming time. Would-be mothers and their partners are eager to meet the newest member of their family, but they are also adjusting to their new roles as parents.
Many new parents want to know about the health of their baby; they want to give their children every opportunity to grow up healthy and happy. One way to give a baby a healthy start is to ensure that newborn screening is performed before discharge from the hospital. .
When the baby's due date finally arrives, expecting mothers are usually feeling a mix of emotions. A lot is happening all at once, and it is easy to get confused. This is why it is important to start learning about newborn screening early. If parents learn about newborn screening during pregnancy, they can ask questions and be educated about the entire process to feel prepared for the screening to occur shortly after birth.
That way you will know what type of results you may receive, what your next steps should be, and exactly what will happen to your newborn baby. The least you need to concern yourself with right after your baby is born, the better.
Most babies are healthy when they are born. Babies are screened because a few babies look healthy but may have one or the other health problems related to inborn errors of metabolism. When these disorders are diagnosed and detected early, serious health disorder such as mental retardation and even death can often be prevented.
Before you leave the hospital, a nurse will take a few drops of blood from your baby's heel. This will usually occur at about 24 hours of age. The hospital will send the blood sample to a newborn screening lab.
First, a physician, nurse, midwife, or other trained member of the hospital staff will fill out a newborn screening card. One part of this card is the filter paper to collect the baby's blood sample. The other part is for important information for the lab performing the screening, such as the baby's name, sex, weight, date/time of birth, date/time of heel stick collection, and date/time of first feeding. It will also include the contact information of the parents and the baby's primary care provider for the follow-up results.
During the blood test, which is sometimes called a heel stick, the baby's heel will be pricked to collect a small sample of blood. Parents are welcome to be a part of this process by holding their baby while the heel stick is performed. Studies show that when mothers or health professionals give better comfort to babies during this process, the babies are less likely to cry. The health professional will put drops of blood onto the filter paper card to create several “dried blood spots.” The newborn screening card is then sent to the laboratory for analysis.
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:
1. Nurse/feed the baby before and/or after the procedure.
2. Hold the baby during the procedure.
3. Make sure the baby is warm and comfortable during the procedure.
Studies show that when mothers or health professionals give better comfort to babies during the heel stick, the babies are less likely to cry.
After the newborn screening tests are done, a small amount of dried blood remains on the filter paper card. Many labs keep and store these “residual samples” because of their continued value to the family, laboratories' quality control and monitoring.
Dried blood spots can be used in the event that a baby requires retesting, providing a fast alternative to bringing the parents and infant back to the hospital for a new blood draw. This is critical, as many of the conditions screened for by newborn screening need to be diagnosed as quickly as possible. We try to leave one full spot on the card.
The dried blood spots can also be made available to the parents for further health-related tests for their newborn, and can be used for identification purposes in the case of a missing child. The dried blood spots can be used to provide a match to help identify the child.
Physicians caring for the newborn will be notified of screening test results. These physicians will in turn discuss the results with the parents. If additional tests are needed, the parents will be told. A follow-up coordinator from the screening program will monitor to ensure that any further testing is conducted in a timely way so that treatment or management of a condition can be started quickly if needed.
Testing times vary from program to program. For blood testing, results are usually ready within 10 days after the sample is collected. If there are results that indicate the need for further testing, the results will likely be available within a few days. Your physician will be notified right away and should contact you quickly, particularly if further tests are indicated. Ask your doctor about the results. Do not assume that no news is sufficient. Be sure that the tests have been performed and that the results are known.
Some babies need to be retested because there is a problem with the blood sample or the results are unclear. A few babies need to be retested because the first test showed an increased risk for a health problem.
Your baby's doctor or a program follow-up coordinator will contact you if your baby needs further testing. They will tell you why more tests are needed and what to do next. A retest does not necessarily mean that your baby is sick, but it does mean that more testing needs to be done to ensure that your baby is healthy.
If your baby needs to be retested, get it done right away. Make sure that your hospital and doctor have your correct address and phone number.
You will be contacted if your baby needs any additional testing. This does not necessarily mean that your baby is sick. But, more tests are needed to be sure that there is not a problem. Your baby's doctor 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. Speed in getting additional tests or doctor's visits is important since some of the conditions tested can result in early death if not acted upon quickly. If you need more information, please ask your doctor.
l The “Core Panel” screens for eight most common conditions recommended by global health bodies for Newborn Screening.
l The “Expanded Panel” screens for about 54 conditions.
l Each year thousands of babies are identified with a newborn screening condition.
l 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 if the blood sample is drawn before 24 hours of age.
l Newborn screening does not confirm a baby has a condition.

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