Newborn Screening in Missouri: What You Need to Know

Published Sep 3, 2024

Jami Kiesling, R.N., BSN
Chief, Bureau of Genetics and Healthy Childhood
Missouri Department of Health and Senior Services 

About Missouri’s Newborn Screening Program 

Newborn blood spot screening allows for early diagnosis and intervention, which can be lifesaving for some infants with rare genetic disorders. On average, Missouri’s Newborn Screening Program identifies about 200 newborns each year with rare conditions. This equates to about 10 kindergarten classes each year. Individually, the disorders identified through newborn screening are rare, however, collectively about 1 in every 300 newborns has a condition detectable through newborn screening. 

Newborn screening is a bit of an umbrella term that refers to screenings that occur shortly after birth to identify newborns who may be at risk for certain rare conditions. These conditions may not otherwise be detected for several days, months or even years. Missouri law requires all babies born in the state to be screened.  

Missouri’s newborn screening panel encompasses more than 70 different conditions, including hearing loss and critical congenital heart defects. Newborn hearing screening is a simple and painless test performed shortly after birth to identify possible hearing loss. Hearing loss is one of the most common conditions identified with newborn screening. If hearing loss is not detected and managed early, it can impede speech, language and cognitive development. Critical Congenital Heart Defects (CCHD) screening also is a very simple, painless test that takes just a few minutes using a pulse oximeter to measure the amount of oxygen in the baby’s blood.   

Aside from hearing loss and CCHD, all other disorders on Missouri’s newborn screening panel are screened by blood spot. For this type of screening, a small amount of blood is collected from the newborn’s heel and that sample is then air dried and transported to the Missouri State Public Health Laboratory for testing. All three types of screening should typically be completed between 24 and 48 hours after birth.  

National Newborn Screening Recommendations 

Newborn screening is required for all babies in every state. While there are national recommendations that guide states on which disorders to screen, newborn screening panels vary slightly from one state to another. 

The national recommendations for state newborn screening programs are outlined in the Recommended Uniform Screening Panel (RUSP) determined by the Secretary of the U.S. Department of Health and Human Services. Disorders on the RUSP are chosen based on evidence that supports the potential net benefit of screening, the ability of states to screen for the disorder, and the availability of effective treatments. While most states screen for most disorders on the RUSP, some are working toward adding new conditions. In addition, some states also screen for additional disorders not listed on the RUSP. Missouri is one of 11 states that screen for at least 36 of the 37 primary disorders listed on the RUSP. 

It’s a good idea for expectant parents to know which disorders are on their state’s newborn screening panel, especially if they live near a state border where a few miles could make a difference in the disorders for which their baby is screened.   

Why Newborn Screening Is Important 

It is important for all babies to undergo newborn screening because, for the most part, there are no signs or symptoms that indicate a baby has one of these disorders until after irreversible damage has been done. These babies look and act normal at birth. There is typically no family history to indicate a baby might be at risk. Historically, before newborn screening, parents had to essentially “lose one to save one.” Many times, younger siblings could be tested and placed on treatment at the expense of their older affected siblings who had either died or suffered life-altering, irreversible effects of a genetic condition. With newborn screening, these children have an equal chance to grow and develop as healthy as possible with early diagnosis and treatment.   

Not only does early detection and early intervention prevent irreversible damage and/or death, but it also helps avoid the long, exhausting diagnostic odysseys that some families must undergo with rare disorders.   

There have even been some horrible accounts in the past where undiagnosed metabolic disorders have been mistaken for cases of child abuse.  

Common Conditions Found Through Screening 

Some of the most common conditions found through newborn screening include the following.  

• hearing loss (1 in 1,000) 
• sickle cell disease (1 in 3,000 general population; 1 in 400 African Americans) 
• congenital hypothyroidism (1 in 1,600) 
• cystic fibrosis (1 in 3,200)
• about 1 in 12 African American babies are found to have sickle cell trait

Screening for Babies Born Outside of Hospitals 

 Babies born outside hospitals can, and should, have newborn screening tests performed within the recommended time frames, like babies born in hospitals. Most midwives can perform newborn blood spot testing and CCHD testing either in the home or in a birth center. If the midwife is not able to perform the test, parents should talk to the health care provider who will be caring for their child to arrange for testing in an outpatient setting.   

While some midwives can perform a hearing screening, for most babies born outside a hospital, the baby’s health care provider can help coordinate the hearing screening. A baby’s hearing should be screened no later than one month after birth.   

How To Learn More 

If parents have questions about Missouri’s newborn screening, they can call the Bureau of Genetics and Healthy Childhood at 573-751-6266 or toll-free at 800-877-6246. They also can visit Health.Mo.Gov/newbornscreening for additional information.   

About the Author 

Jami Kiesling is chief of the Bureau of Genetics and Healthy Childhood in Missouri. One of the programs within the bureau is the Newborn Blood Spot Screening Program. Jami has been involved with this program for 13 years, as her first position at DHSS was Newborn Blood Spot Screening Program Manager.   

“I have had the privilege of collaborating with both internal and external partners over the past years to grow and expand the program, assisting the program to make an impactful difference in the lives of Missouri families.”