Programs
Newborn Screening:
Program Overview
Blood spot screening detects a variety of metabolic and genetic disorders using a few drops of blood from your baby’s heel. Visit Baby’s First Test or read below to learn more about these conditions.
Conditions are added to the Kansas newborn screening panel through a detailed approval process. The Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) makes recommendations to the Secretary of Health and Human Services. Once approved at this level, conditions are added to the Recommended Uniform Screening Panel (RUSP). Kansas NBS utilizes this national recommendation for consideration of new conditions to the screening panel. The general public, parents, health care professionals, specialists, as well as the Newborn Screening laboratory and the Newborn Screening Follow-Up team can also make recommendations for additions to the panel, outside of the RUSP.
An Advisory Council consisting of community advocates, clinical providers and specialists, consultants, and the Newborn Screening Program (lab & follow-up) review and discuss the recommendations. Conditions recommended to be added to the Kansas newborn screening panel are then detailed to the Secretary of the Kansas Department of Health & Environment for final approval before being added to the screening panel. Once approved, it can take several years before the state program is able to add the condition to the screening panel.
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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.
Mucopolysaccharidosis Type-II (MPS II)
- People with MPS II 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 II severity, symptoms and outcomes vary wildly. For some babies with MPS II, detecting the condition early and beginning proper treatment may help prevent or delay some of the severe health outcomes associated with the condition.
- MPS II occurs in about 1 in 100,000 to 1 in 170,000 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.
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)
- 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.
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.
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.
X-Linked Adrenoleukodystrophy (X-ALD)
- X-ALD occurs when certain fats (very long chain fatty acids, or VLCFAs) cannot be broken down in the body. These fats build up and affect how the body normally functions.
- This disease largely affects the nervous system and adrenal glands. When an individual has ALD, the buildup of VLCFAs may disrupt the fatty covering (myelin) of the nerve cells in the brain and spinal cord causing the myelin to breakdown, which reduces the ability of the nerves to relay information to the brain..
- Approximately one of every 170,000 babies is born with X-ALD.