GENETIC ALLIANCE BY BY CLAIRE MENA
Bella’s mind felt clouded and jumbled as the doctor started to discuss her newborn baby’s condition. She had just given birth and could barely focus when the words “heart surgery” shattered her thoughts. Heart surgery, heart surgery, heart surgery… she repeated in her head, unable to wrap her mind around the two words the doctor had just uttered.
Deacon’s story is one that is similar to 5,000 other newborns across the United States every year.
With early detection, health professionals had the ability to identify and treat Deacon’s condition before serious, or even fatal, effects occurred.
“How could it be a heart condition?” Bella and her fiancé Dennis thought. People who are elderly, or unhealthy, have heart conditions, not their seemingly healthy newborn baby, Deacon.
Shortly after birth, while going through the standard newborn screening procedures, Deacon’s displayed low levels of oxygen. Doctors assumed there was fluid in his lungs, but after three days on oxygen without signs of improvement, a physician decided to check his heart; little Deacon had a heart murmur. Following an x-ray and an echocardiogram, doctors were certain: Bella and Dennis’ newborn baby had congenital heart defects (CHD) and would require heart surgery.
While new parents like Bella and Dennis cannot prepare for conditions such as CHD, newborn screening makes it possible for babies to be tested for complications shortly after birth. With this information, physicians can often identify, treat, and potentially prevent diseases before serious effects occur. Once symptoms begin to appear, though, they are less likely to be reversible and can lead to severe health and developmental problems, and even death.
Going through the newborn screening process, especially when there are complications, can be difficult for any parent, but more information on newborn screening can help put parents at ease for what lies ahead:
1. It is sometimes referred to as a PKU test: Even though health professionals may refer to newborn screening as a PKU test, the name can be misleading. In the 1960s, Robert Guthrie, MD, PhD, created a blood test to detect the metabolic disorder, phenylketonuria (PKU), but since then, newborn screening has expanded to include tests for over 70 disorders.
2. There are three parts to newborn screening: the three parts include a blood test, a hearing test, and a pulse oximetry test.
a. The blood test, often referred to as a “heel stick,” is conducted by taking a few drops of blood from the baby’s heel and then dripping it onto a newborn screening card. The dried blood spots are then shipped off to a laboratory and tested for certain conditions
b. The hearing test is performed by either a Otoacoustic Emissions test (OAE) or an Auditory Brainstem Response (ABR) test to determine how the newborn responds to sound.
c. The pulse oximetry test (pulse ox) is used to measure the concentration of oxygen in the blood. Heart conditions such as critical congenital heart disease (CCHD) in infants are often detected when the newborn appears to have low blood oxygen levels.
3. You don’t have to ask for the test: Newborn screening is considered part of the standard medical procedure when a baby is born, so parents are not expected to request the test. Forms for newborn screening are typically signed upon arrival at the hospital prior to giving birth.
4. Every baby does it (or at least almost every baby): Every year, about four million newborns in the United States undergo newborn screening regardless of their health insurance status. Some aspect of newborn screening for a range of conditions is required by each state before a newborn is cleared to leave the hospital. This is often the only way to know if an infant could potentially have a serious, and even life threatening, condition.
5. You have rights as a parent: While newborn screenings are state mandated, parents have the option to opt-out for religious reasons. The decision to forgo testing, though, is one that should be heavily discussed with a health professional because of the serious consequences that can occur if a condition goes undetected.
6. Babies with genetic conditions often look healthy at birth: It is often impossible to know if an infant has any medical conditions in the first moments after birth. While the baby may act and appear healthy, newborn screening is one of the only ways to know if the baby is at risk, especially when there is no family history of genetic conditions.
7. The results aren’t always certain: The screening does not always confirm or rule out certain diagnosis, but can be valuable in discerning if an infant might have a certain condition, which then can be confirmed with follow-up testing.
8. The tests vary from state to state: While each state’s public health department determines which conditions are on their state’s newborn screening panel, most adhere to 29 of the 34 condition recommended by the Advisory Committee on Heritable Disorders in Newborns and Children.
9. You can request additional tests: While each state determines which conditions are screened for on the newborn screening panel, parents who have a family health history of certain conditions, or have other concerns, have the option to ask for supplemental screening, or may be advised by a healthcare provider to do so. Although extra screening is possible, parents should look into their insurance policy because the costs of additional screenings and follow-up treatment are not covered by the state.
10. You can comfort your baby during the test: Newborn babies may feel slight discomfort during the heel stick test, but there are ways for the parents to comfort them. Parents can nurse/feed their baby before and after, hold the baby during the procedure, and keep the baby warm and comfortable. Research shows that when babies are comforted during the heel stick test, they are less likely to cry. While the baby may experience a slight discomfort, their foot will heal quickly without a scar.
Deacon’s story is one that is similar to 5,000 other newborns across the United States every year. But fortunately, with early detection, health professionals had the ability to identify and treat Deacon’s condition before serious, or even fatal, effects occurred. Now six months and one surgery later, Deacon has the opportunity to grow and be a happy baby. Bella and Dennis still have to anticipate further surgeries and a range of struggles in the future but, for now, like other parents, they can focus on his progress toward walking and trying new baby foods.
If you have any questions about what may or may not be provided in your state’s newborn screening panel, Baby’s First Test connects parents with information and resources on newborn screening. If you are still unsure about newborn screening or what your baby should be tested for, talk to your healthcare provider so that you can determine what is best for you and your baby.
ABOUT THE AUTHOR:
Claire Mena is an Engagement and Outreach Specialist at Genetic Alliance. She previously worked in breaking news and now focuses on the relationship between health care and enhancing patient-centered information. You can find her @clairemelise
The world’s leading nonprofit health advocacy organization committed to transforming health through genetics and promoting an environment of openness centered on the health of individuals, families, and communities.