Newborn Screening Information for Families:
Blood Spot Screening
Blood spot screening is the process of testing babies to determine whether they are at risk for over 50 rare conditions that may make them sick before symptoms appear. Often, it is the only way to tell if newborns are affected, since these conditions are generally not detectable at birth. The conditions tested for can:
- affect how the body breaks down proteins (such as PKU)
- cause hormone problems (such as congenital hypothyroidism)
- cause blood problems (such as sickle cell disease)
- affect how the body makes energy (such as MCAD)
- affect breathing and getting nutrients from food (such as cystic fibrosis)
- affect the immune system (such as SCID)
Blood spot screening is important because it can save babies' lives and help them have a healthy start. Identifying and treating affected infants right away is the key to preventing significant health problems and even death. Affected babies may look perfectly normal at birth. Without newborn screening, the disorder may stay hidden but still cause permanent damage to the baby.
Unless you refuse in writing, blood spots are typically collected when your baby is between 24 and 48 hours old. On occasion, the blood spot may need to be collected before 24 hours or after 48 hours. Your baby's provider will discuss this with you if necessary.
Blood spots are collected by a healthcare provider trained in the collection process. A small amount of blood is obtained from the baby's heel by a heel poke. The blood is not collected in a tube but rather is placed on a piece of filter paper (newborn screening card).
The newborn screening card is then sent to Minnesota's Newborn Screening Program Laboratory for testing. Results are usually available within a week after your baby's newborn screening card was received. Your baby's blood spot screening results will be sent to your birth provider, who will forward the results to your baby's primary care provider. If additional testing is needed, your baby's results will be communicated directly to your baby's primary care provider who will discuss the next steps with you.
Unlike the hearing tests performed with older children and adults, newborn hearing screening does not require your baby to raise their hand in response to test sounds. Rather, newborn hearing screening measures your baby's internal response to test sounds.
While your baby is calm, your baby's hearing will be checked using one of two methods: Otoacoustic Emissions (OAE) or Automated Auditory Brainstem Response (AABR). Both of these methods are painless and are acceptable for screening babies. With OAEs, a small rubber tip placed in each ear delivers soft tones and measures the echo that occurs when the ear is functioning normally. With AABRs, earphones deliver the test sounds. Sensors placed on the baby's head and neck measure the baby's internal response to those sounds. For both OAEs and AABRs, a computer measures whether the result is a PASS or REFER (not pass).
You will be notified of your baby's hearing screening results by a member of your healthcare team performing the test. If your baby does not pass the hearing test, an appointment should be scheduled to have your baby's hearing rescreened. If your baby does not pass the hearing rescreen, further testing is needed to make sure your baby is hearing all the sounds important for speech and language development. Your baby's provider will help you arrange an appointment for follow-up as soon as possible.
This CNN news clip explains how newborn hearing screening helps identify hearing problems early so that intervention can prevent delays in speech, language, and cognitive development.
Pulse Oximetry Screening
Pulse oximetry screening uses sensors placed on the baby's skin (typically the hand and foot) to determine the amount of oxygen in the blood. The test is a quick, non-invasive procedure that takes only a few minutes.
You will be notified of your baby's pulse oximetry result by a member of your healthcare team performing the test. If your baby does not pass the screen, your baby's care provider will arrange for further testing and evaluation to determine if your baby has CCHD. Further testing may include a repeat pulse oximetry screen, an echocardiogram (an ultrasound of the heart), an electrocardiogram (tests the electrical activity of the heart), and/or a chest x-ray. If any of the results from the additional testing are of concern for CCHD, then your baby may need to see a pediatric cardiologist. Babies with CCHD need surgery within the first year of life. Each baby with CCHD will require a unique treatment plan developed for his or her particular heart defect.