Newborn Blood Spot Screening
Information for Families

Overview

The Kansas Newborn Screening (NBS) Blood Spot Program screens all babies born in Kansas for 34 different metabolic and genetic disorders at no cost to families. These conditions are serious but treatable with early detection and timely intervention. State law requires all babies born in the state to have a newborn screen shortly after birth to ensure all Kansas newborns have access to early intervention if they are identified as having one of these conditions.

Background

The Kansas Newborn Screening (NBS) Blood Spot Program is a public health program that started in 1965 with the screening of phenylketonuria (PKU). Since then, Kansas has added an additional 33 metabolic and genetic conditions to the newborn screening panel.

Goal

The program aims to identify babies who may have these conditions before symptoms appear. Early intervention before symptoms appear allows babies identified with a condition the best possible chance at healthy outcomes. Kansas is an implied consent state, so screening will occur for all newborns unless the parents or guardians refuse screening.

How It Works

A trained medical professional (such as a nurse or midwife) takes six drops of blood from a newborn’s heel shortly after birth. The dried blood spots are sent to the state lab for testing. The screening at the state lab is used to identify babies that may be at risk for one or more conditions. If a screening comes back as out-of-range, additional testing is usually required.

Cost

Kansas is one of only a few U.S. states that do not charge for newborn bloodspot screening. The cost of the cards and screening is covered under the Newborn Screening Fee Fund. In some circumstances, the Kansas Special Health Care Needs program can cover a one-time diagnostic test related to an out-of-range newborn screen so that it is free of charge to the family.

History of the Kansas Newborn Screening Program

Newborn screening began in Kansas starting in 1965 with the development of the dried blood spot test for Phenylketonuria (PKU). X-Linked Adrenoleukodystrophy (X-ALD) was added to the NBS panel in February of 2024, and mucopolysaccharidosis type II (MPS II) was added in August of 2024. The dried blood spot collection allowed for simpler specimen collection, more convenient shipping, and better storage. Screening for PKU was so successful that additional conditions were added to the screening panel over time.

The Kansas Newborn Screening program aims to screen for all conditions on the Recommended Uniform Screening Panel (RUSP) as recommended by the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC).

List of Conditions Screened

Amino Acid Disorders

Argininosuccinic Aciduria (ASA)

ASA is a condition that causes dangerous amounts of ammonia to build up in the body. People with ASA cannot process ammonia, which the body produces when it breaks down amino acids.
Early detection and treatment can prevent many of the serious outcomes of ASA.
ASA affects one out of every 70,000 babies born in the United States.

Citrullinemia, Type I (CIT)

High levels of ammonia and an amino acid called citrulline in the blood and orotic acid in the urine might indicate that your baby has CIT.
Babies who receive early treatment for CIT can have healthy growth and development.
CIT affects one out of every 57,000 babies born in the United States.

Classic Phenylketonuria (PKU)

PKU is a condition in which the body cannot break down one of the amino acids found in proteins.
If left untreated, PKU can cause brain damage and even death. However, if the condition is detected early and treatment can begin, individuals with PKU can lead healthy lives.
In the United States, one in every 10,000 to 15,000 babies is affected by PKU. The occurrence of PKU varies among ethnic groups and regions.

Homocystinuria (HCY)

HCY is a condition in which the body is unable to break down certain proteins. The amino acids that make up the proteins can build up in the body and cause serious health problems.
If detected early and treatment can begin, children with HCY can often lead healthy lives.
HCY affects about 1 out of every 200,000 to 300,000 babies born in the United States. The condition is more common in certain ethnic groups and populations. In the United States, HCY is more common among white people from New England and people of Irish ancestry.

Maple Syrup Urine Disease (MSUD)

MSUD is a condition in which the body is unable to break down certain proteins. The condition produces a sweet odor of the urine of untreated babies, hence its name.
Detecting MSUD early and beginning treatment can often prevent more severe outcomes of the condition.
MSUD affects one out of every 185,000 babies born worldwide. About one out of every 380 babies from the Old Order Mennonite population is affected by the condition. MSUD is also more common in people of French-Canadian ancestry and Ashkenazi Jewish ancestry.

Tyrosinemia, Type I (TYR I)

TYR I is an inherited condition in which the body is unable to break down certain building blocks of proteins, known as amino acids.
Detecting the condition early and beginning treatment can often prevent the severe outcomes of TYR I.
TYR I affects 1 in 100,000 worldwide. However, TYR I is more common in people of French-Canadian background.

Endocrine Disorders

Congenital Adrenal Hyperplasia (CAH)

CAH is a collection of inherited conditions that affect the body’s adrenal glands. In a person with CAH, the adrenal glands are very large and are unable to produce certain chemicals, including cortisol, a chemical that helps protect the body during stress or illness and helps the body regulate the amount of sugar in the blood.
Early detection and treatment can help children with CAH to have normal and healthy development.
In the United States, about one in every 15,000 babies is born with CAH. The condition may be more or less common in certain ethnic groups and geographic regions.

Primary Congenital Hypothyroidism (CH)

CH is a condition that affects the body’s thyroid gland, a small organ in the lower neck. People with CH do not produce enough thyroid hormone, a chemical essential for healthy growth and development.
CH can cause sluggishness, slow growth, and learning delays. However, if detected early and treatment is begun, individuals with CH often can lead healthy lives.
In the United States, about one in every 3,000 to 4,000 babies is born with CH. Twice as many females as males are affected by CH.

Fatty Acid Oxidation Disorders

Carnitine Uptake Defect (CUD)

CUD is an inherited condition in which the body cannot bring enough carnitine into the cells, resulting in a build-up of unused fatty acids.
If untreated, CUD can cause brain damage or death. However, with early detection and treatment, individuals with CUD can often lead healthy lives.
CUD affects one out of every 100,000 babies. However, it is more common in certain populations.

Long-Chain L-3 Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD)

LCHAD is a condition in which the body is unable to break down certain fats. People affected by LCHAD are unable to change some of the fats they eat into energy the body needs to function.
Detecting the condition early and beginning treatment can prevent many severe outcomes of LCHAD.
People affected by LCHAD are unable to change some of the fats they eat into energy the body needs to function.

Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCAD)

MCAD is a condition in which the body is unable to break down certain fats. People affected with MCAD are unable to change some of the fats they eat into energy the body needs to function.
If untreated, MCAD can cause brain damage and breathing problems. People affected with MCAD are unable to change some of the fats they eat into energy the body needs to function.
MCAD is estimated to affect one out of every 15,000 babies born in the United States. It is more common in people of northern European ancestry.

Trifunctional Protein Deficiency (TFP)

TFP is a condition in which the body is unable to break down certain fats. People affected by TFP are unable to change some of the fats they eat into energy the body needs to function.
Detecting TFP early and beginning treatment can often prevent some of the severe outcomes of TFP.
TFP is a very rare condition. The exact number of individuals affected by TFP is currently unknown.

Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD)

VLCAD is a condition in which the body is unable to break down certain fats. People affected with VLCAD are unable to change some of the fats they eat into the energy the body needs to function.
If untreated, VLCAD can cause brain damage and even death. However, if the condition is detected early in life and proper treatment can begin, individuals affected with VLCAD can often lead healthy lives.
The exact number of individuals affected by VLCAD is currently unknown. Some estimates suggest that the condition may affect as many as one out of every 30,000 people.

Hemoglobin Disorders

S, Beta-Thalassemia (Hb S/ßTh)

Hb S/ßTh is an inherited condition of the blood. Individuals with Hb S/ßTh produce a lower number of red blood cells than other people. In a healthy person, red blood cells are a round, donut shape. In a person affected by Hb S/ßTh, some of the red blood cells are a crescent or sickle shape. These unusually shaped cells do not live as long as normal red blood cells and tend to get stuck in blood vessels where they can block the flow of blood to certain parts of the body.
If the condition is left untreated, it can cause a shortage of red blood cells (anemia), organ damage, or even death. However, if Hb S/ßTh is identified and treated early in life, children can often lead healthier lives. Experiences with Hb S/ßTh vary in terms of the severity of the disease.
Hb S/ßTh is a fairly common blood disorder worldwide; thousands of infants with Hb S/ßTh are born each year.

S, C Disease (Hb S/C)

Hb S/C is an inherited condition of the blood. Some red blood cells are crescent or sickle-shaped in a person affected by Hb S/C. These cells tend to get stuck in blood vessels, which can block blood flow to certain parts of the body.
Left untreated, it can cause a shortage of red blood cells (anemia), organ damage, or even death. However, if the condition is identified and treated early in life, children with Hb S/C can often lead healthier lives.
Hb S/C is more common in certain populations. It is most common in individuals of African descent. It affects one out of every 835 African American babies.

Sickle Cell Anemia (Hb SS)

Hb SS is an inherited condition of the blood. In a person affected by Hb SS, some red blood cells are a crescent or sickle shape. These abnormally shaped cells can get stuck in blood vessels, blocking blood flow to certain body parts.
If the condition is left untreated, it can cause a shortage of red blood cells (anemia), organ damage, or even death. However, if Hb SS is identified and treated early in life, individuals can often lead healthier lives.
Sickle cell anemia is more common in certain populations and ethnicities. It is most common in people of African descent. It affects one out of every 375 African American infants.

Lysosomal Storage Disorders

Mucopolysaccharidosis Type-I (MPS I)

People with MPS I have lysosomes that cannot break down certain complex sugars, which causes undigested sugar molecules and other harmful substances to build up in cells throughout the body, resulting in a variety of symptoms.
MPS I severity, symptoms and outcomes vary wildly. For some babies with MPS I, detecting the condition early and beginning proper treatment may help prevent or delay some of the severe health outcomes associated with the condition.
The severe form of MPS I occurs in about 1 in 100,000 newborns. The less severe form is less common and occurs in approximately 1 in 500,000 newborns.

Pompe (POMPE)

Individuals with POMPE have lysosomes that cannot break down certain complex sugars, causing undigested sugar molecules and other harmful substances to build up in cells throughout the body, resulting in a variety of symptoms.
Infantile-onset POMPE is the most severe form and requires immediate treatment. For the best possible outcome, detecting Pompe early and immediately beginning proper treatment is important.
POMPE is estimated to affect one in every 40,000 newborn babies in the United States.

X-ALD

X-ALD is a condition that is caused by variations (mutations) in the ABCD1 gene. Because it is an X-linked disorder males develop more serious complications than females, while some females will have no symptoms.
Many of those affected experience serious neurological problems either during childhood or during adulthood with rather different types of disabilities. Some affected individuals also have adrenal insufficiency, which means that reduced amounts of certain hormones such as adrenaline and cortisol are produced, leading to abnormalities in blood pressure, heart rate, sexual development and reproduction.
X-ALD prevalence is roughly 1 in 15,000.

Organic Acid Conditions

3-Hydroxy-3-Methylglutaric Aciduria (HMG)

HMG is a condition in which the body is unable to break down certain proteins, which can lead to a harmful amount of organic acids and toxins in the body.
Early detection and treatment can often prevent the serious outcomes of this condition.
HMG is a rare condition. One estimate is that there have been fewer than 100 cases worldwide. The condition is more common in certain populations.

3-Methylcrotonyl-CoA Carboxylase Deficiency (3-MCC)

3-MCC is an inherited condition in which the body is unable to break down certain proteins properly, leading to harmful amounts of organic acids and toxins in the body.
Symptoms of 3-MCC vary. Early detection and treatment can often help children with 3-MCC lead healthy lives.
3-MCC affects one out of every 36,000 to 50,000 newborns.

Beta-Ketothiolase Deficiency (BKT)

BKT is an inherited condition in which the body is unable to produce ketone bodies (substances that help the body store energy) leading to a dangerous amount of organic acids and toxins in the body.
Early detection and treatment can often prevent the severe outcomes of this condition.
Though the exact number of people affected is unknown, BKT is estimated to affect fewer than one in one million newborns.

Glutaric Acidemia, Type I (GA-1)

GA-1 is an inherited condition in which the body is unable to break down certain proteins properly. GA-1 can lead to harmful amounts of organic acids and toxins in the body.
If the condition is left untreated, it can cause brain defects or even death. However, if the condition is identified early in life and proper treatment begins, children with GA-1 can often lead healthy lives.
GA-1 affects about 1 of every 40,000 babies born in the United States. GA-1 is more common in the Amish population of the United States, in the Ojibway Indian population of Canada, and among people of Swedish ancestry.

Holocarboxylase Synthetase Deficiency (MCD)

MCD is a condition in which the body is unable to break down proteins and carbohydrates. People with this condition have trouble using biotin, a vitamin that helps turn certain carbohydrates and proteins into energy for the body.
Early detection and treatment can often prevent severe outcomes of MCD.
MCD is estimated to affect one out of every 87,000 people.

Isovaleric Acidemia (IVA)

IVA is an inherited condition in which the body is unable to break down certain proteins properly, which can lead to a harmful buildup of organic acids and toxins in the body.
If untreated, IVA can cause brain damage and even death. However, if the condition is identified early in life and proper treatment can begin, children with IVA often can lead healthy lives.
IVA is estimated to affect one out of every 230,000 babies born in the United States.

Methylmalonic Acidemia (MMA) (Cobalamin Disorders) (C3 condition)

Methylmalonic acidemia (MMA) is a condition with many different forms, which all have different causes and treatments. Methylmalonic acidemia caused by cobalamin disorders A and B is just one type of MMA. To learn about other types of MMA, read about methylmalonic acidemia caused by methylmalonyl-CoA mutase deficiencies or about methylmalonic acidemia with homocystinuria, which is caused by cobalamin disorders C, D, and F.
MMA is an inherited condition in which the body is unable to break down certain fats and proteins. It is considered an organic acid condition because it can lead to a harmful amount of organic acids and toxins in the body. MMA caused by cobalamin A or cobalamin B deficiencies is one type of methylmalonic acidemia. Children with this form of the condition have trouble producing cobalamin enzymes A and B. Cobalamin enzymes are necessary for the body to break down certain foods.
MMA are organic acid conditions and can also be known as:
- Cbl A,B
- Methylmalonic aciduria
- CblA or cblB type
- MMAA/MMAB
- Adenosylcobalamin deficiency
- Cobalamin A,B
- Methylmalonic acidemia

MMA is an inherited condition in which the body is unable to break down certain fats and proteins, which can lead to a harmful amount of organic acids and toxins in the body.
MMA caused by cobalamin A or cobalamin B deficiencies is one type of methylmalonic acidemia. Children with this condition have trouble producing cobalamin enzymes A and B. Cobalamin enzymes are necessary for the body to break down certain foods.
MMA is estimated to affect one out of every 50,000 to 100,000 babies born in the United States. MMA is caused by cobalamin disorders A and B is only one form of methylmalonic acidemia. The exact number of individuals affected by this specific form is currently unknown.

Methylmalonic Acidemia (MUT) (Methymalonyl-CoA Mutase Deficiency) (C3 condition)

MUT is a condition with many different forms, all of which have different causes and treatments. MUT caused by methylmalonyl-CoA mutase deficiency is just one type of methylmalonic acidemia.
MUT is caused by methylmalonyl-CoA mutase deficiency in about half of all cases.
MUT is estimated to affect one out of every 50,000 to 100,000 babies born in the United States.
Also known as:
• MUT
• Methylmalonyl-CoA mutase deficiency
• MMA
• MCM deficiency
• Mut0
• Mut-
• Methylmalonic acidemia (mutase deficiency)

Propionic Acidemia (PROP) (C3 condition)

PROP is an inherited condition in which the body is unable to break down certain proteins and fats, which can lead to a harmful amount of organic acids and toxins in the body.
If left untreated, it can cause brain defects or even death. Early identification is important for proper treatment to begin, minimizing some of the early complications of the condition.
PROP affects one out of every 35,000 to 75,000 babies born in the United States. The condition is most common among individuals from the Inuit population of Greenland, some Amish communities, and Saudi Arabia.
Also known as:
• PROP
• Ketotic glycinemia
• Ketotic hyperglycinemia
• PCC deficiency
• PA
• Propionic aciduria
• Propionyl-CoA carboxylase deficiency

Other Disorders

Biotinidase Deficiency (BIOT)

BIOT is an inherited condition in which the body is unable to reuse and recycle biotin. Individuals with BIOT are less able to process important nutrients.
Two types of BIOT differ in severity and treatment. Both forms of the condition can cause serious health concerns.
Children with BIOT who are identified through newborn screening and begin treatment immediately usually remain healthy with normal development.
BIOT occurs in one out of every 60,000 births. The condition is most common among individuals of European descent.

Classic Galactosemia (GALT)

GALT is an inherited condition in which the body is unable to properly digest galactose, a sugar found in all foods containing milk. If a child with GALT eats galactose, undigested sugars build up in the blood rather than being used for energy.
If GALT is left untreated, it can cause seizures, serious blood infections, liver damage, or even death. However, when the condition is identified early in life and proper treatment begins immediately, children with GALT can often lead healthy lives.
GALT occurs in 1 in every 30,000 to 60,000 newborns. GALT occurs in people of all ethnic groups, but it is most common in people of Irish descent.

Cystic Fibrosis (CF)

CF causes the body to produce excess mucus that is abnormally thick and sticky, which can lead to a variety of health problems.
If left untreated, CF can cause serious lifelong health problems that could lead to early death. However, when CF is identified early and proper treatment begins, many symptoms can be managed and children can live longer, healthier lives.
The incidence of CF varies by ethnicity. CF is most common in Caucasian populations with one out of every 3,500 newborns diagnosed with CF. It is less common in other ethnic groups, affecting about 1 in 7,000 individuals in the Hispanic population and 1 in 17,000 African Americans.

Severe Combined Immunodeficiency (SCID)

SCID is an inherited condition in which the body is unable to fight off serious and life-threatening infections. Certain parts of the immune system do not work properly in a baby with SCID, putting them at risk for frequent infections.
Children that do not get treatment for SCID rarely live past the age of two. However, early detection and treatment can help these children live longer and healthier lives.
SCID occurs in one out of every 40,000 – 75,000 births. SCID is more common in certain ethnic groups and geographic populations, including Navajo and Apache populations in North America.

Spinal Muscular Atrophy (SMA)

SMA is a group of inherited conditions that affect the motor neurons of the spinal cord. Motor neurons are specialized nerve cells that control the muscles used for breathing, crawling, and walking. In people affected by SMA, the loss of motor neurons leads to progressive muscle weakness and atrophy (wasting).
Four primary forms of SMA are classified based on the severity of the condition and the age at which symptoms begin. The symptoms and long-term outlook of each form vary widely.
In general, forms of SMA with an earlier age of onset are more severe and have a greater impact on motor function. Early detection and treatment of SMA are important since studies suggest that therapy is most effective when started in the first few months of life.
Approximately one of every 10,000 babies is born with SMA.

Condition Resources

Baby’s First Test

Disorder Fact Sheets

Available Supports & Services

FAQs

How are blood spots collected for screening?

A small lancet (designed for babies) is used to make a small cut on your baby’s heel. A few drops of blood are collected and put on a collection card, which is then sent to a state public health laboratory who conducts the testing. The cut usually stops bleeding with a bandage or light pressure. The potential benefits of newborn screening far outweigh the temporary discomfort that comes from the screening.

How is the blood spot screening performed?

Blood spots are collected by a healthcare provider trained in the collection process. The medical professional will use a heel lancet to collect blood on a specific type of filter paper. Once the specimen has dried, it is sent to the Kansas Health and Environmental Laboratories(KHEL) by express mail or courier and should arrive within 24 hours of collection.

KHEL then tests the specimens on various devices and instruments validated for newborn screening. If one or more of the screens return with an out-of-range result, the child’s parents and primary care provider are notified by the Newborn Screening Follow-Up Program that the baby needs additional testing.

How will I find out the results?

The Newborn Screening program will notify your baby’s provider of record. If there is an abnormal or out-of-range result, you will get a letter informing you about next steps. It is a good practice to ask about your baby’s screening results at your baby’s first well-child checkup.

What if my baby has an abnormal or out-of-range result?

The NBS Follow-up Team will contact your baby’s provider of record with the screening results and next steps for your baby. You should receive a call from your baby’s provider with information about the screening results and explain that additional testing is needed to confirm or rule out the initial results. An abnormal or out-of-range result does not always mean your baby has a medical condition, and more testing may be needed. If additional testing is required, please make arrangements for this to be done as soon as possible.

Why do some babies need to have a repeat newborn screen collected?

A repeat screen can be requested for several reasons. Your baby’s provider or the specialist for the condition identified will inform you if a repeat screen or diagnostic testing is necessary for an out-of-range result. A repeat screen may also be requested when the first screen was invalid or unsatisfactory, meaning that the lab cannot determine the results.

What happens to the blood specimen after the screening?

Blood specimens with normal results are destroyed one month after being received. Abnormal specimens may be used for validation purposes, but all personal identifiable information is removed. Parents may request that their baby’s specimen not be used for these purposes by submitting their request in writing to Neonatal Laboratory Manager Kansas Health and Environmental Laboratories, 6810 SE Dwight Street, Topeka, KS 66620.

Where will the collection be performed?

Most collections occur in the hospital or birthing facility before you go home. Healthcare professionals should inform you that the collection will be taking place, and it could occur while the baby is in your presence or in a separate room, depending on the facility’s policies. Most midwives are trained to conduct a blood spot collection, however, it may be necessary to go to a collection facility to obtain a newborn screening specimen if your baby is born outside of a birthing facility.

Why do babies need to have a newborn screening?

Newborn screening is the process by which a baby is screened for genetic and metabolic conditions which may not be detectable through a normal check up or other testing. Some conditions on the Kansas screening panel may cause permanent neurological or physical disability, or possibly even death. There are conditions on the screening panel which are considered time critical and immediate medical intervention may be needed. With early identification and intervention, babies are given the best possible chance to reduce the impacts of the condition and its related symptoms.

What should the healthcare professional do when they receive a call from the Kansas Newborn Screening Follow-Up Program?

When a health care professional receives a call from the Follow-Up Program regarding newborn screening results, the follow up team will provide necessary information and next steps for the care of the baby. This may include faxing a letter to the health care professional that has additional information about the condition and the time critical actions (depending on condition). The health care professional should notify the baby’s family, informing them about the screening results and the need for further evaluation. It is important that the health care professional follow the recommendations of the NBS Blood Spot Program provided in the documentation unless advised by a relevant specialist to take alternative actions.

What should the healthcare professional do when they receive an unsatisfactory/invalid result?

If the result is unsatisfactory or invalid, a repeat specimen is necessary to complete the screening process. It is important that the baby’s family be notified as soon as possible that a repeat screen is necessary to ensure the health of their baby. In most instances, repeat screening is recommended within 1-3 days.

What is the role of Kansas NBS Follow-Up Program in the newborn screening process?

Newborn screening follow-up is a critical component of the newborn screening process. When results of the newborn screen are abnormal or out-of-range, the follow-up team notifies the provider designated on the newborn screen collection card. The follow-up team will provide information regarding the baby’s results and next steps to ensure the family has the necessary information and supports to care for their baby. If a condition is confirmed through diagnostic testing, the follow-up team will provide additional information to families, in addition to making referrals to supportive programs, including but not limited to the Kansas Special Health Care Needs program and the Kansas Early Childhood Development Services program.

Can I pay to have my baby screened privately?

Yes, however, private laboratories may not screen for all conditions on the Kansas newborn screening panel. Additionally, some conditions on the NBS panel are sent for second tier testing which may not be provided with private testing. For more information about private laboratory testing speak with your baby’s healthcare provider.

Blood Spot Retention & Use in Kansas

Blood specimens with normal results are securely disposed of one month after being received. Abnormal specimens may be used for validation purposes, but all personal identifiable information associated with abnormal specimens is removed and those specimens are only utilized for validation purposes for laboratory equipment. Parents may request that their baby’s specimen not be used for these purposes by submitting their request in writing to Neonatal Laboratory Manager Kansas Health and Environmental Laboratories, 6810 SE Dwight Street, Topeka, KS 66620.