newborn screening

After the birth of your baby, there are so many events that happen. That first look into your baby’s eyes, feeding, sleepless nights, and changing diapers. While you are still in the hospital, your baby is also evaluated to make sure he or she is healthy. One of the many tests the hospital runs to test the health of your baby is newborn screening. Typically only involving a heel prick and a few spots of blood from your baby, newborn screening tests for a wide variety of conditions that could have a large impact on the health of your baby if not detected early.  Newborn screening  is a state public health service offered to all infants in the United States. If a condition is detected on newborn screening, it allows health care providers to detect the condition early in infancy and start treatment before the baby can be harmed.

 

What’s Involved in a Newborn Screening Test?

As mentioned,  newborn screening typically involves just a heel prick and taking a few spots of blood from the baby when the baby is 24-48 hours old. But what exactly do they do with the blood? And what tests do they do as part of newborn screening? There are three parts to newborn screening: blood test, hearing screen, and pulse oximetry. For the blood test, a health care provider fills out a newborn screening card with the baby’s personal information, and the blood spots also go on the card. The card is then sent to the state laboratory for analysis. The blood spots are used to analyze your baby’s blood for the levels of certain proteins in the blood. These levels will determine if your baby is at risk to have one of the conditions being tested for.

The second part of newborn screening is the hearing test. The first part of the hearing test is the Otoacoustic Emissions test, which involves placing a miniature earphone and microphone in the baby’s ear. Sounds are played, and in a baby with normal hearing, an echo is reflected back into the ear canal that can be measured. The second part of the hearing test is the Auditory Brain Stem Response test, which involves the same miniature earphone and microphone being placed in the ear and sounds being played. They also place electrodes along the baby’s head to detect the brain’s response to the sounds. All of this testing is completely safe and comfortable for the baby and only takes 5-10 minutes.

The third part of newborn testing is the pulse oximetry test, which is a non-invasive test that analyzes how much oxygen is in your baby’s blood. A painless sensor is placed on the baby’s skin and can measure the amount of oxygen in the blood within minutes.

 

Understanding Test Results

If one of the screening tests comes back positive or abnormal, either the baby’s parents will be notified by their doctor or the state newborn screening program. If the newborn screening comes back abnormal, it doesn’t necessarily mean something is wrong with the baby. There are a number of explanations for why a newborn screen can come back abnormal and the baby is healthy. However, in some cases an abnormal result could also mean that the baby has a serious condition that needs to be treated right away. The purpose of newborn screening is to catch those babies that have those serious conditions as soon as possible and to start them on treatment.

While every state in the United States routinely performs newborn screening, each state has a different number of conditions they screen for through the blood test portion of newborn screening. Most states screen for 29 of the 35 conditions recommended by the Advisory Committee on Heritable Disorders in Newborns and Children. While each of these 35 conditions in and of themselves are rare, grouped together over 5,000 babies are found to have one of these conditions each year through newborn screening.

 

Genetic Testing for Your Newborn

Many of these conditions that are part of newborn screens are inherited conditions, like cystic fibrosis or sickle cell disease. These conditions involve both parents being carriers of the condition, and then passing their carrier status on to a baby, which results in the baby being affected by that condition. If parents have a desire to know if they are carriers of these conditions before becoming pregnant or during pregnancy, carrier screening is available, which is a simple blood test performed on the parents. For more information please contact AT-GC and ask to meet with a genetic counselor to learn more about carrier screening or other types of screening.

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