Newborn Blood Spot Screening

The newborn blood spot screen should be collected between 24 and 48 hours of age. A small sample of blood is collected from the baby’s heel and placed on a special filter paper. The filter paper, or blood spot card, is then sent to the Missouri Department of Health and Senior Services’ State Public Health Laboratory (SPHL) for testing. After the SPHL has completed testing, results are sent to the facility or midwife that submitted the blood spot card as well as the baby’s primary care provider. At this point, one of three things will happen. The results will be normal, the baby will need to have the screen repeated, or the baby will require further testing to rule out a disorder.

Babies who appear healthy and come from healthy families can still have serious medical conditions. Newborn screening helps health professionals identify and treat conditions before they can cause serious health problems, disability, or even death. Most babies identified through newborn screening are treated early and grow up healthy.

Newborn Screening Frequently Asked Questions For Parents

What is a newborn blood spot screening?

A newborn blood spot screening refers to a test performed on newborns shortly after birth and before they are discharged from the hospital. These tests are done to protect them from the serious effects of conditions that may otherwise go undetected for several days, months, or even years. A screening test only finds those babies who may be at risk for a disorder. Only additional testing (diagnostic testing) can tell if the baby really has the disorder.

Why should my baby have the screening?

The conditions for which your baby will be tested are individually rare. However, they are also very serious and can result in severe injury to the brain, organs, or nervous system, and/or may result in death if not treated. The newborn blood spot screen helps identify babies who need treatment, such as a special diet or medication. Since symptoms are not typically apparent at birth, the best way to detect these disorders before permanent damage occurs is through newborn screening. Only additional testing (diagnostic testing) can tell if the baby truly has the disorder. The screening tests are very good but not fail-safe and may not always detect a disorder. In any case, if your baby does not seem well, talk to your baby's doctor as soon as possible.

What conditions are currently included in Missouri’s Newborn Blood Spot Screening?

The Missouri Newborn Blood Spot Screening panel currently screens for over 70 different metabolic, endocrine and genetic disorders.

Is Newborn Screening required in Missouri?

Yes, state law RSMo 191.331 requires all newborns born in Missouri to be screened. A parent may decline screening if the test conflicts with their religious tenets and practices. Parents who decline screening must document their refusal in writing. The written refusal should then be filed with the health care provider and/or health care facility and a copy should also be sent to the Department of Health and Senior Services.

How is the blood spot screening collected?

At 24-48 hours of age the newborn's heel is warmed and then pricked. A few drops of blood are put on a special filter paper and sent by courier or mailed to the Missouri State Public Health Laboratory (MSPHL).

If your baby is born at home, your health care provider should collect the blood spot screening. If not, you need to make an appointment with your baby's doctor to have a newborn blood spot screening test collected. Ideally, this test should be done at 24 – 48 hours after birth.

How are the screening results reported and who are they reported to?

Final newborn blood spot screening results are available to submitters and health care providers approximately one week after the specimen is received by the MSPHL. The submitter is the hospital where the baby was born or the midwife who delivered the baby. The health care provider is the individual listed on the newborn blood spot collection form who will provide care for the baby after discharge.

If your baby has a high-risk result, the MSPHL will call out results to contracted specialists. The newborn screening program has contractual agreements with MU Health Care in Columbia, Children’s Mercy Hospital in Kansas City, St. Louis Children’s Hospital in St. Louis, and SSM Cardinal Glennon in St. Louis. These agreements allow the lab staff, screening staff, providers, and specialists to work together as one big team. The specialists and primary care provider quickly collaborate to create a plan of care for the baby. This is typically done within one to two days after the MSPHL receives the newborn screening sample.

It is very important that the newborn blood spot collection form is filled out accurately. This includes the health care provider’s name and contact information, as well as the parent's correct name and contact information in case a repeat newborn screen or other intervention is needed. If you don't have a telephone, please leave the phone number of a neighbor or relative on the blood spot collection form.

You can also help by notifying your baby's health care provider if you move after the baby is born. Then, if your baby should need to be retested, your baby's health care provider will know where to reach you. Remember, time is very important. If your baby's health care provider is someone other than the physician listed on the collection form, then your current provider will not have a copy of the baby's newborn screening result. It is important that parents tell those collecting the blood spot screening who their baby’s health care provider will be.

How do I find out about my baby’s results?

Your baby’s health care provider should go over your baby’s newborn screening results with you during one of your first well baby visits. If not, please ask to ensure that your baby has been screened and that your health care provider has the results.

I received a letter saying that my baby needs a repeat screen. What do I do now?

The results of your baby’s screen were not within normal limits, so the test needs to be repeated. This does not mean there is an issue with your baby’s health. A repeat screen can make sure the results are normal. If repeat results are abnormal, your baby may need more specific testing. This gives health care providers the information they need to help you keep your baby healthy.

It is important to contact your baby’s health care provider as soon as possible. Your baby’s health care provider can talk to you about your baby’s newborn screening results and help you schedule a repeat screen.

If you have any questions about this letter or the newborn screening process, please call 1-800-877-6246.

When is a repeat screen needed?

There are several reasons why your baby's health care provider or the hospital may tell you that your baby needs to be retested. Some reasons include:

Poor Quality Sample: A problem occurred with the collection or handling of the blood sample.
Sample Collected Too Early: The blood spot specimen cannot be accurately tested if it was collected before your baby is 24 hours old.
Treatments/Medications: The blood spot specimen cannot be accurately tested if the baby was given a treatment or medication that interfered with the results.
Borderline Results: The test was almost normal, but not quite.

Note: Premature or low birth weight newborns are more likely to have results that are out of the normal range on their first specimen, even if a disorder is not present. It is still important to follow through with the provider or hospital’s recommendations for additional screening or testing. This will help to avoid missing a disorder.

I received a letter saying that my baby needs a screening. What do I do now?

You received this letter because the MSPHL does not have newborn blood spot screening results for your baby. Please complete the questions in your letter and return it in the self-addressed stamped envelope provided for your convenience. Alternatively, you can use the missing survey to complete the questions on your letter. If you have any questions about this letter or the newborn screening process, please call 800-877-6246.

My baby’s health care provider cannot do an initial and/or repeat newborn screen in their clinic. What do I do now?

It is your baby’s health care provider’s responsibility to ensure your baby has the newborn screens completed. They can help coordinate collection with a birth hospital, an outpatient lab, or a local public health agency.

Can these disorders be cured?

There are no cures for most of these disorders. If these disorders are found and a baby gets treatment early, serious problems can be prevented or reduced. If babies with these disorders get early and continuous treatment, most can grow and develop normally and live healthy lives.

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Newborn Screening Frequently Asked Questions For Parents