Newborn Screening Information for Families: Screening Basics - Minnesota Dept. of Health

Newborn Screening Information for Families:
Screening Basics

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Blood spot screening

What is blood spot screening? Blood spot screening is the process of testing babies to determine whether they are at risk for over 60 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 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)

Why is blood spot screening important? 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.

When should blood spot screening be performed? 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.

How is blood spot screening performed? 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.

VIDEO: A Parent's Guide to Newborn Screening

A Parent's Guide to Newborn Screening explains the basics about newborn screening, its purpose, and what parents need to do if retesting is necessary. This video was created by the March of Dimes.

March of Dimes: A Parent's Guide to Newborn Screening Video Text

Hearing screening

What is hearing screening? Hearing screening checks babies for hearing loss in the range where speech is heard.

Why is hearing screening important? Access to language is the foundation for your baby’s ability to learn, so it’s important to identify any problems with hearing as soon as possible. Speech and language begin to develop at birth, even though babies don’t usually begin to talk until about one year of age. A child with hearing loss may have difficulty with speech and language if hearing loss is not identified early. Without hearing screening, hearing loss is usually not noticeable to parents or providers until developmental delays have already occurred. Screening and follow-up testing are the only ways to find hearing loss early. Learning if your baby has hearing loss will help you and your baby find the best ways to communicate and avoid delays.  

When should hearing screening be performed? Screening should be performed as soon as possible and all additional screening should be complete before your baby is one month old. If your baby is born in a hospital, the initial screen should be performed before you and your baby go home. Hearing screening is best performed when your baby is calm, well-fed, and comfortable.

How is hearing screening performed? Unlike hearing tests for older children and adults, newborn hearing screening does not require active participation from your baby. Instead, a small screening device will play soft sounds while it measures how your baby’s inner ear or hearing nerve responds.

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 brain 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 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.

VIDEO: Information about newborn hearing tests

This CNN news clip explains how newborn hearing screening helps identify deaf/hard of hearing early so that intervention can prevent delays in speech, language, and cognitive development.

Information about Newborn Hearing Tests Video Text

Pulse oximetry screening

What is pulse oximetry screening? Pulse oximetry screening is a fast and painless procedure which measures the amount of oxygen in your baby's blood. Low oxygen levels can be a sign of critical congenital heart disease (CCHD) or other conditions such as breathing problems or infections.

Why is pulse oximetry screening important? While prenatal ultrasounds may detect some cases of CCHD, not all can be detected before birth. Without screening shortly after birth, babies with CCHD are sometimes sent home without care because they appear healthy. At home, these babies can develop serious health problems and often require emergency care. If CCHD is detected early, however, infants can be treated and lead healthier lives.

When should pulse oximetry screening be performed? The pulse oximetry screen is best performed when your baby is at least 24 hours old.

How is pulse oximetry screening performed? 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.

VIDEO: Heart Smart: CCHD Screening for Parents

Heart Smart: CCHD Screening for Parents explains how this simple, painless procedure improves outcomes and saves lives. This video was created by Baby's First Test and the Children's National Medical Center.


Heart Smart: CCHD Screening for Parents Video Text