Frequently Asked Questions

What is a Newborn Blood-Spot Screen?
Why should my baby have the screening?
What conditions are currently screened in Missouri?
Are Newborn Screens required in Missouri?
How is the Screening done?
How are the screening results reported and to whom?
How do I find out about my baby's results?
If I get notified that my baby needs to have the screening repeated does it mean my baby has one of these 67 conditions?
Can these disorders be cured?

What is a Newborn Blood-Spot Screen?
A newborn blood-spot screen refers to tests performed on newborns before they are discharged from the hospital. These tests are done to protect them from the serious effects of conditions that otherwise may not be detected 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 for are individually rare. However, they are also very serious and can result in mental retardation and/or death if not treated. Babies with these conditions appear normal at birth. It is only with time the condition affects the baby's mental or physical development or causes other medical problems. By then the damage may be permanent. The newborn screen helps to identify the babies needing treatment, such as a special diet or medication. Only additional testing (diagnostic testing) can tell if the baby really has the disorder.  About 1 in 600 of Missouri’s newborns are found to have one of the screening disorders.

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 screened in the Missouri?
In Missouri all newborns are screened for the following metabolic or genetic conditions:

Fatty Acid Oxidation Disorders
Babies born with one of these disorders have trouble burning fat for energy. This can lead to vomiting, low blood sugar or more serious problems such as coma or death if untreated. Treatment depends on the disorder that a baby has, but may include a special diet and medication. A baby with a fatty acid oxidation disorder must have regular medical care by an experienced physician. The Newborn Screening Program will screen for:

Organic Acid Disorders
A baby with one of these disorders cannot remove certain waste products from their blood. Without treatment, the buildup of these waste products causes serious medical problems affecting the baby's health and development, including seizures, coma and brain damage. Treatment depends on the disorder, but may include special diets, supplements and medications. A baby with an organic acid disorder must have regular medical care by an experienced physician. The Newborn Screening Program will screen for:

Are Newborn Screens required in Missouri?
Yes, state law RSMo 191.331 requires all newborns born in Missouri to be screened.
A parent may decline due to religious grounds. These grounds must be stated in writing and the written objection filed with the attending physician, certified nurse, midwife, public health facility or hospital. A copy of the written objection will be sent to the Department of Health and Senior Services.

How is the Screening done?
The newborn's heel is pricked and a few drops of blood are put on a special filter paper. This is done before your baby is discharged from the hospital. The filter paper is sent by courier or mailed to the Missouri State Public Health Laboratory, Newborn Screening Laboratory.

If your baby is born at home, you need to make an appointment with your baby's doctor to have a newborn blood-spot screening test. Preferably, this test should be done at 24 – 48 hours after birth.

How are the screening results reported and to whom?
The test results are reported by the Newborn Screening Laboratory, by mail, three to five days after the filter paper sample was received, to both the doctor who saw your baby while in the hospital and to the hospital where your baby was born. If your baby has a high risk result, the Newborn Screening Laboratory calls and faxes a copy of the high risk result immediately to the doctor who saw your baby in the hospital. This is often done within 30 hours or less after the Newborn Screening Laboratory receives the newborn screening sample.

It is very important that the hospital and the doctor have the parent's correct last name, telephone number, and address, in case a repeat newborn screen is needed. Infants with unclear or borderline results need to be rescreened. If the repeat newborn screen indicates that further evaluation is needed, the Newborn Screening Laboratory will contact the baby’s doctor immediately.

If you don't have a telephone, please leave the phone number of a neighbor or relative with the doctor or hospital. You can also help by notifying your baby's doctor if you move after the baby is born, then if your baby should need to be retested, your baby's doctor will know where to reach you. Remember, time is very important. If your baby's doctor is someone other than the physician at the hospital, then your current physician will not have a copy of the baby's newborn screen result. It is important that parents tell hospital staff who their baby’s doctor is going to be.

How do I find out about my baby's results?
Your doctor should go over the results of your baby's newborn screening results with you during a well baby visit. If not, please ask.

If I get notified that my baby needs to have the screening repeated does it mean my baby has one of these 67 conditions?
Not necessarily. There are several reasons why your baby's doctor or the hospital may tell you that your baby needs to be retested. Some reasons include:

Unsatisfactory specimen: The filter paper sample cannot be tested because: there was not enough blood to complete all the required screening tests, there was too much blood on the sample, or due to other reasons.

"Too Early" specimen: If the blood specimen was collected before the baby was 24 hours old, a repeat newborn screen should be done as soon as possible to avoid missing a disorder.

Abnormal: The Newborn Screening Laboratory will call the doctor right away on all results that are moderate to high risk. Screening results that are low to borderline risk usually only require a repeat screen.

Note: Premature or low birth weight newborns are more likely to have out of the expected range test results on the first specimen, even if a disorder is not present.

Again, if your baby needs a repeat newborn screen or a diagnostic test, it is important that you follow through with the doctor or hospital’s recommendations for additional screening or testing. This will help to avoid missing a disorder.

Can these disorders be cured?
At this time there is no known cure for these disorders. The serious effects of many of the disorders can be prevented or lessened if a special diet, medical treatment, or other intervention is started early.