Newborn screening tests

Newborn screening tests check babies for serious, rare disorders that may not be visible at birth, before your baby leaves the hospital. The three newborn screening tests are blood spot test (heel stick), hearing screening test and pulse oximetry screening test. The conditions that newborn babies are screened for varies by state. Some disorders are more common in some states, making these individual tests more important in those states.

1. Blood spot screening or heel-prick test checks for about 60 rare but treatable disorders. Early detection can help prevent serious health problems, disability, and even death. Three conditions were added for screening in January 2017. A heel-prick is used to sample the baby’s blood. The blood drops are collected in a small vial or on a special paper. The blood is then sent for testing. The baby’s heel may have some redness at the pricked site, and some babies may have bruising, but this usually disappears in a few days.
2. Hearing screening checks for hearing loss. Identifying hearing loss early helps babies stay on track with speech, language, and communication skills.
3. Pulse oximetry screening also called heart screening, checks for a set of serious heart defects known as critical congenital heart disease (CCHD). If detected early, babies with critical congenital heart disease can often be treated with surgery or other medical interventions.

Your baby can be born with a health condition but may not show any signs of the problem at first. If a health condition is found early with newborn screening, it often can be treated. This makes it possible to avoid more serious health problems for your baby.

Results of the hearing and pulse oximetry screen will be available on the same day of screening and will be discussed with families at that time. The blood spot screening process takes a few days. The newborn screen reports may include a potential diagnosis, recommend additional testing, and information about the needed referral to a specialist.

Approximately 1 in every 300 newborns in the U.S. has a condition that can be detected through screening. With the early detection afforded by newborn screening, affected infants receive prompt treatment, which can prevent permanent disability, developmental delay and even death. No child should suffer or die when there is a means to identify and treat the condition.

Newborn screening tests may include:

• Phenylketonuria (PKU). PKU is an inherited disease in which the body cannot metabolize a protein called phenylalanine. It is estimated that 1 baby in 25,000 is born with PKU in the U.S. Without treatment, PKU can cause intellectual disability. Newborn screening for PKU is required in all 50 states.
• Congenital hypothyroidism. This is a condition in which the baby is born with too little thyroid hormone. Hypothyroidism is also quite common and has almost doubled in the past 20 years to approximately 1 in 2,000 births in the U.S. Untreated low thyroid hormone levels can lead to mental developmental problems and poor growth. All 50 states screen for hypothyroidism.
• Galactosemia. This is an inherited disorder in which the baby is unable to metabolize galactose, a milk sugar. It is estimated to occur in about 1 baby in every 53,000 births. Without treatment (avoidance of milk), galactosemia can be life threatening. Symptoms may begin in the first two weeks of life. All states screen for galactosemia.
• Sickle cell disease. This inherited disorder occurs primarily in African Americans, but may also occur in Hispanics and Native Americans. The disease causes a severe form of anemia. There are different types of the disease. The disease occurs in about one out of every 500 African American births and 1 out of every 36,000 Hispanic American births. Early diagnosis of sickle cell disease can help lower some of the risks which include severe infections, blood clots, and stroke.
• Maple syrup urine disease. This is an inherited disorder that is very common in the Mennonite population. The disorder is caused by an inability of the body to properly process certain parts of protein called amino acids. The name comes from the characteristic odor of maple syrup in the baby’s urine caused by the abnormal protein metabolism. If untreated, it is life threatening as early as the first two weeks of life. Even with treatment, severe disability and paralysis can occur.
• Homocystinuria. This inherited disorder affects 1 in 100,000 babies and causes intellectual disability, bone disease, and blood clots. It is caused by a deficiency of an enzyme necessary to digest an amino acid called methionine.
• Biotinidase deficiency. This inherited disorder is characterized by a deficiency of the biotinidase enzyme. This enzyme is important in metabolizing biotin, a B vitamin. It affects 1 in 60,000 to 75,000 babies in the U.S. and is most common in the people of European descent. Lack of the enzyme can lead to severe acid build up in the blood, organs, and body systems.
• Congenital adrenal hyperplasia (CAH). Most states screen for this inherited disease of the adrenal glands. Babies born with congenital adrenal hyperplasia (CAH) cannot make enough of the hormone cortisol, which helps control energy, sugar levels, blood pressure, and how the body responds to the stress of injury or illness. The Endocrine Society estimates the incidence of CAH at 1 in about 15,000, depending on the severity of the disease. It is extremely common in a certain group of Eskimos in western Alaska. CAH may also affect the development of the genitals and the hormones of puberty.
• Medium chain acyl-CoA dehydrogenase deficiency (MCAD). This disorder of fatty acid oxidation can cause sudden death in infancy and serious disabilities in survivors, such as intellectual disability. MCAD affects about 1 baby in 6,400 to 46,000, almost exclusively in people of northwestern European descent.
• Hearing loss. Three in every 1,000 newborns have significant hearing loss, and nearly all states are currently testing newborns.

Other tests screen for disorders including congenital toxoplasmosis and cystic fibrosis. Some states are using a new testing technique called tandem mass spectrometry (MS/MS) which can detect more than 30 disorders using a simple blood sample, including those involving protein and fatty acid metabolism.

Most screenings cannot be performed until a baby has received at least 24 hours of breast milk or formula. Your baby may need follow-up testing if you are discharged before this time or the baby is unable to be tested before discharge. Most states mandate a second blood test to be done at 2 weeks of age.

Newborn screening tests key points:

• All babies in the United States get newborn screening. The conditions newborns are screened for differ in each state. Each state decides which tests are required.
• Most states screen for 29 of the 35 conditions recommended by the Advisory Committee on Heritable Disorders in Newborns and Children. Although these conditions are rare, each year over 5,000 babies are identified with a newborn screening condition.
• Ask your baby’s health care provider which tests your baby will have.
• There are three parts to newborn screening. A heel stick to collect a small blood sample, pulse oximetry to look at the amount of oxygen in the baby’s blood, and a hearing screen.
• The blood test is generally performed when a baby is 24 to 48 hours old. This timing is important because certain conditions may go undetected if the blood sample is drawn before 24 hours of age.
• If your baby has a newborn screening test result that’s not normal, he should have a different kind of test to make sure he’s healthy.
• Newborn screening helps identify rare but serious health conditions. Many of these can be treated if found early.
• Newborn screening does not confirm a baby has a condition. If a positive screen is detected, parents will be notified immediately and follow-up testing will be done.
• Every baby born in the United States will be screened unless a parent decides to opt out for religious reasons.

Do parents have to ask for newborn screening?

No – it is normal hospital procedure to screen every baby regardless of whether the parent asks for it and whether the parents have health insurance. The screening test is normally included in the forms for standard medical procedures that the newborn may need after birth. Parents sign this form upon arrival at the hospital for the birth of their baby. All states require screening to be performed on newborns, but most will allow parents to refuse for religious purposes. Any decision to decline or refuse testing should first be discussed with a health professional, since newborn screening is designed to protect the health of the baby.

When is newborn screening test done?

Your baby gets newborn screening before he/she leaves the hospital after birth, when she’s/he’s 1 to 2 days old. This timing is important because certain conditions may go undetected if the blood sample is drawn before 24 hours of age. If the blood is drawn after 48 hours of age, there could be a life-threatening delay in providing care to an infant that has the condition. Some states require babies to undergo a second newborn screen when they are two weeks old. This precaution ensures that parents and health professionals have the most accurate results.

Ideally, the newborn hearing screen should be performed before the baby leaves the hospital.

If your baby isn’t born in a hospital, talk to her healthcare provider about getting newborn screening at 1 to 2 days of age. Some states require that babies have newborn screening again about 2 weeks later.

Newborn screening and home births

Even babies who are not born in a hospital are required to have newborn screening. If a home birth is planned, the licensed midwife may be qualified to complete the newborn screening blood test and hearing screen. If newborn screening cannot be completed in the home, parents should bring the infant to a hospital or clinic for the newborn screening blood test within a few days of birth. A hearing screen should also be scheduled with the baby’s health care provider at no later than one month of age.

Newborn Screening for Preterm, Low Birth Weight, NICU or Sick Newborns

Babies born preterm, sick or with a low birth weight often have certain medical problems that require special treatments. These treatments or procedures can affect the newborn screening results. These infants may require a special process for newborn screening. For example, many preterm, sick or low birth weight infants require more than one blood draw throughout their hospital stay to ensure accurate testing. To find out more about your hospital’s protocol, speak with your obstetrician or the baby’s doctor.

Newborn screening and Adoption

For international adoptions, some adoption agencies may be able to arrange overseas newborn screening during the pre-adoption period with the consent of the infant’s legal guardian. For children adopted from the United States, most states recommend that contact information for the adoptive parents, adoption agency, or lawyer be included on the newborn screening card, rather than that of the birth mother. This will allow timely follow-up with the child’s caregivers in the event of an abnormal test result.

Adopted children who are born at home, in independent clinics or in other countries may not have had newborn screening, or their results may be unavailable. If results cannot be confirmed during the initial medical assessment of an adopted infant, screening should be done promptly. Clinical testing may be more appropriate than newborn screening for adopted children older than one year of age and for children whose medical history suggests they have a health condition.

Newborn screening for Military Families

Babies born at Military Treatment Facilities (MTF’s) will have newborn screening provided through the state they were born in. This applies to all branches of the military (Army, Navy, Air Force). For babies born in MTFs outside of the continental United States, the Military Treatment Facility will send the sample to a preselected state program on the mainland for testing. Military babies born outside of Military Treatment Facility’s will get the screening used by the hospital they are born in. For information on state programs, please visit the state page (https://www.babysfirsttest.org/newborn-screening/states) of where the baby will be born to learn about that state’s panel.

What if newborn screening results aren’t normal?

Most newborn screening results are normal. In rare cases when your baby’s screening results aren’t normal, it may simply mean she needs more testing. Your baby’s doctor then recommends another kind of test, called a diagnostic test, to see if there is a health problem. If the diagnostic test results are normal, no more testing is needed. If the diagnostic test results are not normal, your doctor can guide you about next steps for your baby.

How will parents find out the results?

Parents will learn if their baby’s newborn screening result is out of the normal range from their baby’s health care provider and/or the state newborn screening program. An abnormal newborn screen result does not necessarily mean your baby is ill. It may occur because the blood sample was collected too soon after birth, not enough blood was obtained, or your infant did not have enough breast or bottle feedings prior to the testing. However, sometimes an out-of-range result indicates a serious, but treatable, health problem. It is important for parents to follow up with the baby’s primary healthcare provider immediately to learn the cause of the out-of-range result.

Why are all babies screened at birth?

Most babies are born healthy. However, some infants have a serious medical condition even though they look and act like all newborns. These babies generally come from families with no previous history of a condition. Newborn screening allows health professionals to identify and treat certain conditions before they make a baby sick. Most babies with these conditions who are identified at birth and treated early are able to grow up healthy with normal development.

How are newborn screening costs covered?

Newborn screening test costs vary by state because individual states finance their newborn screening programs in different ways. Most states collect a fee for screening, but health insurance or other programs often cover all or part of it. Babies will receive newborn screening regardless of health insurance status.

For more information regarding the cost of newborn screening in your state, contact your state’s newborn screening coordinator. Find the contact info for your state coordinator by searching for your state here (https://www.babysfirsttest.org/newborn-screening/states).

If one of my children has a health condition, will my baby have it, too?

Almost all of the health conditions found by newborn screening are inherited. This means they are passed from parents to children.

When one child in a family has an inherited health condition, the chance of a brother or sister having the same condition is higher than if no child in the family has the condition.

If you have a child with a health condition and you want to have another baby, talk to your health care provider or a genetic counselor. A genetic counselor is a person who is trained to know about genetics, birth defects and other medical problems that run in families.

Sometimes hearing loss is not inherited. For example, it can be caused by an infection during pregnancy. In this case, it usually doesn’t happen in another pregnancy.

People with specific questions about genetic risks or genetic testing for themselves or family members should speak with a genetics professional.

Resources for locating a genetics professional in your community are available online:

• The National Society of Genetic Counselors (https://www.findageneticcounselor.com/) offers a searchable directory of genetic counselors in the United States and Canada. You can search by location, name, area of practice/specialization, and/or ZIP Code.
• The American Board of Genetic Counseling (https://www.abgc.net/about-genetic-counseling/find-a-certified-counselor/) provides a searchable directory of certified genetic counselors worldwide. You can search by practice area, name, organization, or location.
• The Canadian Association of Genetic Counselors (https://www.cagc-accg.ca/index.php?page=225) has a searchable directory of genetic counselors in Canada. You can search by name, distance from an address, province, or services.
• The American College of Medical Genetics and Genomics (http://www.acmg.net/ACMG/Genetic_Services_Directory_Search.aspx) has a searchable database of medical genetics clinic services in the United States.

What if I want newborn screening test not provided by my state?

Because the conditions found on each state’s newborn screening panel is determined by the state, the number and type of conditions a baby will be screened vary depending on the state in which he or she is born. Most states will screen for all the conditions found on the Recommended Uniform Screening Panel. Some states screen for more conditions. Parents have the option of pursuing additional screening for their child if they are concerned about a specific condition not being screened for in their state.

What is additional screening?

Additional screening also known as supplemental screening, refers to additional testing that can be performed after participating in your state’s newborn screening program. While each state screens for many conditions, there are more conditions that can be detected at birth. It is recommended that all babies be screened for all conditions on the Recommended Uniform Screening Panel, which currently contains 35 conditions. These conditions are chosen because they are able to be detected by newborn screening and have effective treatments available if caught early. Some of the additional conditions that can be identified by supplemental screening do not necessarily have a good treatment plan available. If you have more questions about additional screening based on your family history or other health concerns, we recommend that you discuss them with a health care professional. Be sure to ask about what conditions are covered in your state and what additional information this screening may provide. You may also want to contact your insurance company to determine its policy regarding additional screening coverage, since the state program does not pay for additional screening or the follow-up treatment.

Private and nonprofit companies such as those below can provide information about their expanded newborn screening services. Please be aware that the resources listed below are for informational purposes only and do not indicate an endorsement or guarantee any outcomes.

2M Associates, Inc.

• 2M Associates, Inc. is associated with The University of Colorado Health Sciences Center, Denver, (U.S.A.) and provides expanded newborn screening in the U.S., India, the United Arab Emirates, and a number of other countries. All of the samples are processed in U.S. laboratories.
• Phone number: 440-498-7484

Baylor Medical Center Institute of Metabolic Disease

• This site offers educational material and information on newborn screening disorders. It also includes information on ordering supplemental newborn screening tests offered at Baylor.
• Toll free number: 1-800-422-9567
• Website: https://www.baylorgenetics.com

Mayo Medical Laboratories

• Mayo Medical Laboratories, the reference laboratory for Mayo Clinic, provides supplemental newborn screening for more than 20 disorders using tandem mass spectrometry. The screening is performed separately from state-mandated screening and does not replace state-mandated screening. The test is performed under the supervision of pediatric geneticists in Mayo’s Biochemical Genetics Laboratory.
• Toll free number: 1-800-533-1710
• Website: https://www.mayoclinic.org/departments-centers/laboratory-medicine-pathology/overview/specialty-groups/laboratory-genetics

PerkinElmer Genetics, Inc

• PerkinElmer Genetics Screening Laboratory provides comprehensive newborn screening through a simple, fast and accurate product, StepOneTM. StepOne Comprehensive Newborn Screening detects more than 50 disorders in newborns from just a few drops of blood. This screening allows parents the opportunity to protect their babies from the preventable complications of undiagnosed disorders.
• Toll free number: 1-866-463-6436
• Website: https://newbornscreening.perkinelmer.com

University of Colorado Expanded Newborn Screening Program

• The Expanded Newborn Screening Program allows parents to have their babies screened for over 20 additional disorders. Tests are run at the Biochemical Genetics Laboratory University of Colorado Health Sciences Center At Fitzsimons – Aurora, Colorado.
• Phone number: 303-724-3826

What are newborn screening pilot programs?

When a state believes that adding a health condition to the newborn screening panel could benefit both individuals and public health, it generally begins a study of the new test, called a pilot study. In most states, the parents will be asked whether they want their baby to be screened for the conditions in the pilot programs after the baby is born. If they say yes, no additional blood will be taken from the baby, but he or she will be screened for a number of conditions in addition to the routine newborn screening panel. Results of pilot studies are reported with routine screening results. As with routine newborn screening, if there is an out-of-range result, the parents will be contacted with follow-up testing instructions. Sometimes these pilot programs are offered to families who give birth at a particular hospital, care facility, or network.

Newborn screening test procedure

There are three parts to newborn screening:

1. Blood test. Most newborn screening is done with a blood test. A health care provider pricks your baby’s heel to get a few drops of blood. He collects the blood on a special paper and sends it to a lab within 1 day (24 hours) for testing. Your provider gets results for serious health conditions within 5 days and results for all conditions by 7 days. Following these timeframes is critical in case your baby has a disorder that needs to be identified and treated as early as possible. You can check with the hospital staff to make sure your baby’s sample was sent to the lab on time.
2. Hearing screening. For this test, your provider places a tiny, soft speaker in your baby’s ear to check how your baby responds to sound. Your baby gets this test before she leaves the hospital after birth.
3. Heart screening is also called pulse oximetry. It checks the amount of oxygen in your baby’s blood by using a sensor attached to his finger or foot. This test is used to screen babies for a group of heart conditions called critical congenital heart disease. Your baby gets this test before he leaves the hospital after birth.

To find out more about the timeframes used for sending blood samples to lab and getting test results back, ask your baby’s doctor or the hospital staff. Some states have websites with information about how well your hospital uses the timeframes. Check your state’s health department website to see if this information is available about your hospital.

Blood test

First, a physician, nurse, midwife, or other trained member of the hospital staff will fill out a newborn screening card. One part of this card is the filter paper to collect the baby’s blood sample. The other part is for important information for the lab performing the screen, such as the baby’s name, sex, weight, date/time of birth, date/time of heel stick collection, and date/time of first feeding. It will also include the contact information of the parents and the baby’s primary care provider for the follow-up results.

During the blood test, which is sometimes called a heel stick, the baby’s heel will be pricked to collect a small sample of blood. Parents are welcome to be a part of this process by holding their baby while the heel stick is performed. Studies show that when mothers or health professionals comfort babies during this process, the babies are less likely to cry. The health professional will put drops of blood onto the filter paper card to create several “dried blood spots.” The newborn screening card is then sent to the state laboratory for analysis.

Families can make requests for additional screening, also known as supplemental screening. Additional screening refers to extra testing that can be performed after participating in your state’s newborn screening program. This is sometimes done if there is family history of certain conditions or other health concerns. While each state screens for many conditions, there are more conditions that can be detected at birth. We recommend discussing additional screening and any concerns you might have with a health care professional. Make sure to ask what conditions are covered in your state and what information additional screening could provide. It is also important to contact your insurance company to determine their policy regarding additional screening coverage, since state programs do not pay for additional screening or the follow-up treatment.

Will the newborn screening blood test hurt my baby?

Most babies experience some brief discomfort from the heel stick, but it heals quickly and leaves no scar. The following suggestions may help make the screening experience more comfortable for you and your baby:

1. Nurse/feed the baby before and/or after the procedure.
2. Hold the baby during the procedure.
3. Make sure the baby is warm and comfortable during the procedure.

Studies show that when mothers or health professionals comfort babies during the heel stick, the babies are less likely to cry.

What uses do residual dried blood spots have for a family?

Dried blood spots can be used in the event that a baby requires retesting, providing a fast alternative to bringing the parents and infant back to the hospital for a new blood draw. This is critical, as many of the conditions screened for by newborn screening need to be diagnosed as quickly as possible. Many states try to leave one full spot on the card.

The dried blood spots can also be made available to the parents for further health-related tests for their newborn, and can be used for identification purposes in the case of a missing or deceased child. The dried blood spots can be used to provide a match to help identify the child at the parent’s request.

Where are residual dried blood spots stored?

Typically, the same laboratory that conducted the newborn screening testing also manages the storage of dried blood spots. Storage facilities are located either at state public health laboratories, university and medical center laboratories, or private laboratories contracted by the state.

How do states protect the privacy of personally identifiable information?

In all states, the primary concern of the dried blood spots storage program is security. In most states, once newborn screening is completed, the filter paper containing the residual dried blood spots is separated from the newborn screening card that contains the newborn’s identifying information. The residual dried blood spots sample is assigned a code and is stored in a locked facility accessible only by employees with extensive data privacy training. When the dried blood spots sample is used for research purposes, the sample is assigned yet another code or tracking number, which ensures that the research team is many steps removed from any identifying information. Additionally, all requests for the use of residual dried blood spots for research must be reviewed, at minimum, by an Institutional Review Board before the de-identified spots can be released for research. Exact procedures vary state-by-state, but the above practices are typical of those implemented in all states and territories practicing dried blood spots storage.

How do residual dried blood spots help state public health programs?

Residual dried blood spots are used in quality assurance and quality control procedures to ensure a laboratory’s equipment is working properly. The samples also aid in the development of new newborn screening tests that can be made available to improve the health outcomes of our nation’s newborns. Our current newborn screening system is built upon such practices.

How do residual dried blood spots help biomedical research?

Public health programs utilize dried blood spots for population-based research. Furthermore, dried blood spots provide states with an unbiased, complete sample that allows states to better understand factors that contribute to the health of their residents, and to better address public health issues.

How long do states retain dried blood spots?

Depending upon the state, dried blood spots can be retained anywhere from one month to indefinitely. Most states store residual dried blood spots for over one year.

Have residual dried blood spots ever been misused?

To date, there have been no published reports on the misuse of residual dried blood spots. Privacy protections and patient confidentiality rules ensure that blood spots cannot be accessed by a third party, including insurers and law enforcement. Protecting the interests of the infants from whom the dried blood spots are obtained is of the utmost importance to state public health programs. States continue to develop guidelines for the persistent and expanded use of residual samples.

Hearing screen

Two different tests can be used to screen for hearing loss in babies. Both tests are quick (5-10 minutes), safe and comfortable with no activity required from your child. In fact, these tests are often performed while a baby is asleep. One or both tests may be used.

1. Otoacoustic Emissions (OAE) Test: This test is used to determine if certain parts of the baby’s ear respond to sound. During the test, a miniature earphone and microphone are placed in the ear and sounds are played. When a baby has normal hearing, an echo is reflected back into the ear canal, which can be measured by the microphone. If no echo is detected, it can indicate hearing loss.
2. Auditory Brain Stem Response (ABR) Test: This test is used to evaluate the auditory brain stem (the part of the nerve that carries sound from the ear to the brain) and the brain’s response to sound. During this test, miniature earphones are placed in the ear and sounds are played. Band-Aid-like electrodes are placed along the baby’s head to detect the brain’s response to the sounds. If the baby’s brain does not respond consistently to the sounds, there may be a hearing problem.

To find contact information for your state’s Early Hearing Detection and Intervention program, click here (http://www.infanthearing.org/status/cnhs.php).

Pulse Oximetry testing

Pulse oximetry, or pulse ox, is a non-invasive test that measures how much oxygen is in the blood. Infants with heart problems may have low blood oxygen levels, and therefore, the pulse ox test can help identify babies that may have Critical Congenital Heart Disease (CCHD). The test is done using a machine called a pulse oximeter, using a painless sensor placed on the baby’s skin. The pulse ox test only takes a couple of minutes and is performed after the baby is 24 hours old and before he or she leaves the newborn nursery.

Newborn screening diseases list

Each state requires different tests, so ask your baby’s health care provider which tests your baby will have. To see which health conditions your state screens for, see the BabysFirstTest.org Find a Conditions Screened By your State page (https://www.babysfirsttest.org/newborn-screening/states) or view their interactive map (https://www.babysfirsttest.org/newborn-screening/rusp-conditions).

Although newborn screening programs differ state by state, there are national recommendations to guide and support states in the development of their program. The committee that works to set these national guidelines is called the Advisory Committee on Heritable Disorders in Newborns and Children. They meet regularly to discuss proposals from parent advocates, organizations and experts in order to keep newborn screening up to date. In addition, the Secretary of the U.S. Department of Health and Human Services reviews the Committee’s recommendations.

The Committee and the Secretary work together to create the Recommended Uniform Screening Panel or RUSP. The Recommended Uniform Screening Panel is a list of conditions, including 35 core conditions and 26 secondary conditions, which the Committee recommends every baby should be screened for. The Recommended Uniform Screening Panel recommendation is not a law, but it serves as a helpful guide for the states. After consulting the Recommended Uniform Screening Panel, each state chooses which health conditions it will include in their newborn screening program. You can view the Recommended Uniform Screening Panel on the Advisory Committee on Heritable Disorders in Newborns and Children website here (https://www.hrsa.gov/advisory-committees/heritable-disorders/rusp/index.html). Many of these health conditions can be treated if found early.

Health conditions divided into seven groups

Note: Conditions with an asterisk (*) are part of the federally recommended uniform screening panel. Conditions screened vary by state.

1. Organic acid metabolism disorders. Babies with these problems don’t metabolize food correctly. Metabolism is the way your body changes food into the energy it needs to breathe, digest and grow.

• 2-Methyl-3-Hydroxybutyric Acidemia (2M3HBA)
• 2-Methylbutyrylglycinuria (2MBG)
• 3-Hydroxy-3-Methylglutaric Aciduria also called hydroxymethylglutaric aciduria (HMG) *
• 3-Methylcrotonyl-CoA Carboxylase Deficiency (3-MCC) *
• 3-Methylglutaconic Aciduria (3MGA)
• Beta-Ketothiolase Deficiency (BKT) *
• Ethylmalonic Encephalopathy (EME)
• Glutaric Acidemia, Type I (GA-1) *
• Holocarboxylase Synthetase Deficiency also called multiple carboxylase deficiency (MCD) *
• Isobutyrylglycinuria (IBG)
• Isovaleric Acidemia (IVA) *
• Malonic Acidemia (MAL)
• Methylmalonic Acidemia (Cobalamin Disorders) (Cbl A,B) *
• Methylmalonic Acidemia (Methymalonyl-CoA Mutase Deficiency) (MUT) *
• Methylmalonic Acidemia with Homocystinuria (Cbl C, D, F)
• Propionic Acidemia (PROP) *

2. Fatty acid oxidation disorders. When your body runs out of sugar, it usually breaks down fat for energy. A baby with fatty acid oxidation problems can’t change fat into energy.

• 2,4 Dienoyl-CoA Reductase Deficiency (DE RED)
• Carnitine Acylcarnitine Translocase Deficiency (CACT)
• Carnitine Palmitoyltransferase I Deficiency (CPT-IA)
• Carnitine Palmitoyltransferase Type II Deficiency (CPT-II)
• Carnitine Uptake Defect (CUD) *
• Glutaric Acidemia, Type II (GA-2)
• Long-Chain L-3 Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD) *
• Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCAD) *
• Medium-Chain Ketoacyl-CoA Thiolase Deficiency (MCAT)
• Medium/Short-Chain L-3 Hydroxyacyl-CoA Dehydrogenase Deficiency (M/SCHAD)
• Short-Chain Acyl-CoA Dehydrogenase Deficiency (SCAD)
• Trifunctional Protein Deficiency (TFP) *
• Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD) *

3. Amino acid metabolism disorders. Babies with these problems can’t process amino acids in the body. Amino acids help the body make protein.

• Argininemia (ARG)
• Argininosuccinic Aciduria (ASA) *
• Benign Hyperphenylalaninemia (H-PHE)
• Biopterin Defect in Cofactor Biosynthesis (BIOPT-BS)
• Biopterin Defect in Cofactor Regeneration (BIOPT-REG)
• Carbamoyl Phosphate Synthetase I Deficiency (CPS)
• Citrullinemia, Type I (CIT) *
• Citrullinemia, Type II (CIT II)
• Classic Phenylketonuria (PKU) *
• Homocystinuria (HCY) *
• Hypermethioninemia (MET)
• Hyperornithine with Gyrate Deficiency (Hyper ORN)
• Maple Syrup Urine Disease (MSUD) *
• Nonketotic Hyperglycinemia (NKH)
• Ornithine Transcarbamylase Deficiency (OTC)
• Prolinemia (PRO)
• Tyrosinemia, Type I (TYR I) *
• Tyrosinemia, Type II (TYR II)
• Tyrosinemia, Type III (TYR III)

4. Hemoglobin disorders. These problems affect red blood cells. Red blood cells carry oxygen to the rest of the body.

• Glucose-6-Phosphate Dehydrogenase Deficiency (G6PD)
• Hemoglobinopathies (Var Hb)
• Hb S, Beta-Thalassemia (Hb S/ßTh) *
• Hb S/C disease (Hb S/C) *
• Sickle Cell Anemia (Hb SS) *

5. Lysosomal storage disorders. Babies with these problems can’t break down certain types of complex sugars. This causes harmful substances to build up in the body.

• Fabry (FABRY)
• Gaucher (GBA)
• Krabbe disease
• Mucopolysaccharidosis Type-I (MPS I) *
• Mucopolysaccharidosis Type-II (MPS II)
• Niemann-Pick Disease (NPD)
• Pompe (POMPE) *

6. Adrenal gland disorders. These problems affect the adrenal glands, which sit on top of the kidneys and help the body make hormones.

• Congenital Adrenal Hyperplasia (CAH) *
• X-linked adrenoleukodystrophy (X-ALD)

7. Other disorders

• Adrenoleukodystrophy (ALD) *
• Biotinidase Deficiency (BIOT) *
• Classic Galactosemia (GALT) *
• Congenital Cytomegalovirus
• Congenital Hypothyroidism (CH) *
• Congenital Toxoplasmosis (TOXO)
• Critical Congenital Heart Disease (CCHD) *
• Cystic Fibrosis (CF) *
• Formiminoglutamic Acidemia (FIGLU)
• Galactoepimerase Deficiency (GALE)
• Galactokinase Deficiency (GALK)
• Guanidinoacetate Methyltransferase Deficiency (GAMT)
• Hearing loss (HEAR) *
• Human Immunodeficiency Virus (HIV)
• Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome (HHH)
• Pyroglutamic Acidemia (5-OXO)
• Severe Combined Immunodeficiency (SCID) *
• Spinal Muscular Atrophy (SMA) *
• T-cell Related Lymphocyte Deficiencies

Health conditions listed alphabetically

Conditions with an asterisk (*) are part of the federally recommended uniform screening panel (https://www.babysfirsttest.org/newborn-screening/conditions). Conditions screened vary by state.

• 2,4 Dienoyl-CoA Reductase Deficiency (DE RED)
• 2-Methyl-3-Hydroxybutyric Acidemia (2M3HBA)
• 2-Methylbutyrylglycinuria (2MBG)
• 3-Hydroxy-3-Methylglutaric Aciduria (HMG) *
• 3-Methylcrotonyl-CoA Carboxylase Deficiency (3-MCC) *
• 3-Methylglutaconic Aciduria (3MGA)
• Adrenoleukodystrophy (ALD) *
• Argininemia (ARG)
• Argininosuccinic Aciduria (ASA) *
• Benign Hyperphenylalaninemia (H-PHE)
• Beta-Ketothiolase Deficiency (BKT) *
• Biopterin Defect in Cofactor Biosynthesis (BIOPT-BS)
• Biopterin Defect in Cofactor Regeneration (BIOPT-REG)
• Biotinidase Deficiency (BIOT) *
• Carbamoyl Phosphate Synthetase I Deficiency (CPS)
• Carnitine Acylcarnitine Translocase Deficiency (CACT)
• Carnitine Palmitoyltransferase I Deficiency (CPT-IA)
• Carnitine Palmitoyltransferase Type II Deficiency (CPT-II)
• Carnitine Uptake Defect (CUD) *
• Citrullinemia, Type I (CIT) *
• Citrullinemia, Type II (CIT II)
• Classic Galactosemia (GALT) *
• Classic Phenylketonuria (PKU) *
• Congenital Adrenal Hyperplasia (CAH) *
• Congenital Cytomegalovirus
• Congenital Toxoplasmosis (TOXO)
• Critical Congenital Heart Disease (CCHD) *
• Cystic Fibrosis (CF) *
• Ethylmalonic Encephalopathy (EME)
• Fabry (FABRY)
• Formiminoglutamic Acidemia (FIGLU)
• Galactoepimerase Deficiency (GALE)
• Galactokinase Deficiency (GALK)
• Gaucher (GBA)
• Glucose-6-Phosphate Dehydrogenase Deficiency (G6PD)
• Glutaric Acidemia, Type I (GA-1) *
• Glutaric Acidemia, Type II (GA-2)
• Guanidinoacetate Methyltransferase Deficiency (GAMT)
• Hearing loss (HEAR) *
• Hemoglobinopathies (Var Hb)
• Holocarboxylase Synthetase Deficiency (MCD) *
• Homocystinuria (HCY) *
• Human Immunodeficiency Virus (HIV)
• Hypermethioninemia (MET)
• Hyperornithine with Gyrate Deficiency (Hyper ORN)
• Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome (HHH)
• Isobutyrylglycinuria (IBG)
• Isovaleric Acidemia (IVA) *
• Krabbe
• Long-Chain L-3 Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD) *
• Malonic Acidemia (MAL)
• Maple Syrup Urine Disease (MSUD) *
• Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCAD) *
• Medium-Chain Ketoacyl-CoA Thiolase Deficiency (MCAT)
• Medium/Short-Chain L-3 Hydroxyacyl-CoA Dehydrogenase Deficiency (M/SCHAD)
• Methylmalonic Acidemia (Cobalamin Disorders) (Cbl A,B) *
• Methylmalonic Acidemia (Methymalonyl-CoA Mutase Deficiency) (MUT) *
• Methylmalonic Acidemia with Homocystinuria (Cbl C, D, F)
• Mucopolysaccharidosis Type-I (MPS I) *
• Mucopolysaccharidosis Type-II (MPS II)
• Niemann-Pick Disease (NPD)
• Nonketotic Hyperglycinemia (NKH)
• Ornithine Transcarbamylase Deficiency (OTC)
• Pompe (POMPE) *
• Primary Congenital Hypothyroidism (CH) *
• Prolinemia (PRO)
• Propionic Acidemia (PROP) *
• Pyroglutamic Acidemia (5-OXO)
• S, Beta-Thalassemia (Hb S/ßTh) *
• S, C Disease (Hb S/C) *
• Severe Combined Immunodeficiency (SCID) *
• Short-Chain Acyl-CoA Dehydrogenase Deficiency (SCAD)
• Sickle Cell Anemia (Hb SS) *
• Spinal Muscular Atrophy (SMA) *
• T-cell Related Lymphocyte Deficiencies
• Trifunctional Protein Deficiency (TFP) *
• Tyrosinemia, Type I (TYR I) *
• Tyrosinemia, Type II (TYR II)
• Tyrosinemia, Type III (TYR III)
• Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD) *

The Recommended Uniform Screening Panel

Table 1. Recommended Uniform Screening Panel – Core Conditions (as of July 2018)

Core Condition	Metabolic Disorder			Endocrine Disorder	Hemoglobin Disorder	Other Disorder
	Organic acid condition	Fatty acid oxidation disorders	Amino acid disorders
Propionic acidemia	X
Methylmalonic acidemia (methylmalonyl-CoA mutase)	X
Methylmalonic acidemia (cobalamin disorders)	X
Isovaleric acidemia	X
3-Methylcrotonyl-CoA carboxylase deficiency	X
3-Hydroxy-3-methyglutaric aciduria	X
Holocarboxylase synthase deficiency	X
ß-Ketothiolase deficiency	X
Glutaric acidemia type I	X
Carnitine uptake defect/carnitine transport defect		X
Medium-chain acyl-CoA dehydrogenase deficiency		X
Very long-chain acyl-CoA dehydrogenase deficiency		X
Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency		X
Trifunctional protein deficiency		X
Argininosuccinic aciduria			X
Citrullinemia, type I			X
Maple syrup urine disease			X
Homocystinuria			X
Classic phenylketonuria			X
Tyrosinemia, type I			X
Primary congenital hypothyroidism			X
Congenital adrenal hyperplasia				X
S,S disease (Sickle cell anemia)					X
S, βeta-thalassemia					X
S,C disease (Sickle cell disease)					X
Biotinidase deficiency						X
Critical congenital heart disease						X
Cystic fibrosis						X
Classic galactosemia						X
Glycogen Storage Disease Type II (Pompe)						X
Hearing loss						X
Severe combined Immunodeficiencies						X
Mucopolysaccharidosis Type 1						X
X-linked Adrenoleukodystrophy						X
Spinal Muscular Atrophy due to homozygous deletion of exon 7 in SMN1						X

Table 2. Advisory Committee on Heritable Disorders in Newborns and Children Recommended Uniform Screening Panel – Secondary Conditions (as of July 2018)

Secondary Condition	Metabolic Disorder			Hemoglobin Disorder	Other Disorder
	Organic acid condition	Fatty acid oxidation disorders	Amino acid disorders
Methylmalonic acidemia  with homocystinuria	X
Malonic acidemia	X
Isobutyrylglycinuria	X
2-Methylbutyrylglycinuria	X
3-Methylglutaconic aciduria	X
2-Methyl-3-hydroxybutyric aciduria	X
Short-chain acyl-CoA dehydrogenase deficiency		X
Medium/short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency		X
Glutaric acidemia type II		X
Medium-chain ketoacyl-CoA thiolase deficiency		X
2,4 Dienoyl-CoA reductase deficiency		X
Carnitine palmitoyltransferase type I deficiency		X
Carnitine palmitoyltransferase type II deficiency		X
Carnitine acylcarnitine translocase deficiency		X
Argininemia			X
Citrullinemia, type II			X
Hypermethioninemia			X
Benign hyperphenylalaninemia			X
Biopterin defect in cofactor biosynthesis			X
Biopterin defect in cofactor regeneration			X
Tyrosinemia, type II			X
Tyrosinemia, type III			X
Various other hemoglobinopathies				X
Galactoepimerase deficiency					X
Galactokinase deficiency					X
T-cell related lymphocyte deficiencies					X

What is the difference between core and secondary conditions in the Recommended Uniform Screening Panel?

Core conditions are the conditions that newborn screening is specifically designed to identify. A condition on the newborn screening panel is classified as a “core condition” if:

• There is a specific and sensitive test available to detect it
• The health outcomes of the condition are well understood
• There is an available and effective treatment
• Identification of the condition could affect the future reproductive decisions of the family.

Secondary conditions are the genetic conditions that can be identified when looking for a core condition. A condition on the newborn screening panel is classified as a “secondary condition” if it is identified unintentionally when screening for one of the core conditions, or as a consequence of confirmatory testing for an out-of-range result of a core condition.

Newborn screening test results

After the birth of a baby, most parents do not hear back from their baby’s health care provider about the newborn screening results, as families are not contacted if the screening result was within the normal range. Sometimes, families will receive a phone call from the state newborn screening program or their baby’s health care provider about 2-3 weeks after the screen was performed. In these instances, there may have been an out-of-range result that could indicate the child has one of the conditions included in the state’s screening panel.

If a baby’s newborn screening result is positive or “out-of-range,” the baby’s health care provider or the state newborn screening program will notify parents and provide instructions for the follow-up testing process.

It is important to remember that an out-of-range screening result does not mean that a child has the condition. In fact, most babies with out-of-range newborn screens are healthy and have follow-up test results within the normal range.

Follow up with the baby’s healthcare provider immediately.

Some infants with out-of-range results do end up having a treatable condition. Finding and treating these conditions at an early age can often prevent serious problems, such as brain damage, organ damage, and even death. It is very important to follow the healthcare provider or state public health program’s instructions quickly and carefully.

What does a negative (in-range) result mean?

A “negative” or “in-range” result means that the baby’s blood test did not show any signs of the conditions included on the newborn screening panel.

In terms of the newborn hearing screening, often an in-range or negative result will be referred to as “passing” the newborn screening. This means that when your baby was tested, his or her hearing was well that day.

In most states, parents are only contacted in the event of a positive result. If you do not receive information about your baby’s newborn screening results and would like to confirm that the results were negative, contact your baby’s primary healthcare provider.

What does a positive (out-of-range) result mean?

A “positive” or “out-of-range” result means that the baby’s screening exam did show signs that the baby may be at higher risk of having one or more of the conditions included on the newborn screening panel. This does not mean that the baby definitely has a medical condition. In fact, most babies who receive positive results do not have the condition of concern. However, follow-up testing must be performed immediately to determine if a condition is actually present.

A “positive” or “out-of-range” newborn hearing screen is often referred to as “not passing” the newborn hearing screen. This means that the newborn hearing screen did not provide a clear result as to whether the baby could hear or not. Following a hearing screen in which the baby does not pass, the family will be referred to an audiologist who will perform further testing to determine if the baby actually has hearing loss.

In the event of a positive result, the parents will be notified by the baby’s primary healthcare provider or the state newborn screening program and will be given directions about what to do next. Because of the serious nature of the conditions on the newborn screening panel, it is important to follow the directions quickly and carefully. The sooner follow-up testing can be completed, the sooner the treatment can begin if a baby is found to have the condition. This will ensure the best possible outcome for the baby.

The results of your baby’s newborn hearing screen will be reported to the Early Hearing Detection and Intervention (EHDI) program of the state that your baby was tested in. Most states have laws in place that mandate how the results must be reported and what steps should be taken following a positive diagnosis for hearing loss. To see if your state has a law regarding the Early Hearing Detection and Intervention program go here (https://www.asha.org/advocacy/federal/ehdi).

Each condition has a unique confirmatory test. Go to the “Find a Condition” section (https://www.babysfirsttest.org/newborn-screening/conditions) and either type in a condition or select a condition from the list to find condition-specific information about the confirmatory testing process.

Confirmatory testing must be performed to determine whether or not the child has the condition

Newborn screening identifies babies who may have a condition so that confirmatory testing can be offered to find out if the condition is truly present. The baby’s health care provider may perform the confirmatory diagnostic testing or they will refer to a specialist clinic.

What are False Positives?

Newborn screening is not the same as diagnostic testing. A diagnostic test can tell with more certainty whether or not a child has a genetic condition. On the other hand, a screening test simply indicates that a child may have a condition. The purpose of a screening test is to catch all babies that may have a condition. This means that many children with an out-of-range screening result are healthy. When a child with an out-of-range newborn screening result has a follow-up test result within the normal range, it is sometimes called a “false positive”.

Is my child really healthy?

If your health care provider tells you that confirmation testing shows a false positive result, your child does not have the condition that was suggested by newborn screening. Since genetic conditions are present from birth, the child will not develop this condition in the future. No further follow up testing or treatments are needed, but if you continue to have concerns, tell a health care provider.

Why did this happen?

A false positive result can occur for many reasons. Newborn screening evaluates the levels of different substances in a baby’s blood. Anything that can cause the levels to be higher or lower than expected can lead to a false positive result. For example, a healthy baby may have an out-of-range newborn screening result if he or she has not eaten enough before the screen, the specimen has been exposed to heat, the initial blood sample was too small, or the test was performed too early. Sometimes a screen comes back positive for a specific condition that the baby ends up not having, but allows the baby’s doctor to see if there is another medical issue. Again, screening is meant to find babies that may be sick early in their lives.

What is Carrier Identification?

Occasionally, when a baby’s newborn screen is out-of-range for conditions like cystic fibrosis or sickle cell anemia, follow-up testing reveals that he or she is a carrier of the condition.

Most of the conditions identified through newborn screening are autosomal recessive genetic conditions. Babies with autosomal recessive conditions inherited two non-working copies of a particular gene – one from their mother and one from their father. If a child only inherits one non-working copy of the gene, he or she is considered a “carrier” of the condition.

Is my child really healthy?

In recessive conditions, a single non-working gene is not enough to cause the serious and life-threatening symptoms that are typically associated with a condition. In fact, most carriers are healthy and do not even know they have a non-working copy of the gene.

What does this mean for my family?

Children inherit pairs of genes from their parents – one from their father and one from their mother. Therefore, if a child has a non-working copy of a gene, they most likely inherited it from one of their parents. This can have implications for the entire family.

When a child is identified as a carrier of a genetic condition, it is possible that one or both parents are carriers of the condition, as well. Therefore, the parents may want to undergo genetic testing and counseling to determine their own carrier status, especially if they plan on having more children in the future. When one parent is a carrier of the condition and the other parent has two working copies of the gene:

• There is a 1 in 2 chance (50%) of having a child with 2 working genes.
• There is a 1 in 2 chance (50%) of having a child who is a carrier (1 working copy and 1 non-working copy of the gene).

Recessive genetic conditions

When both parents are carriers of a recessive genetic condition:

• There is a 1 in 4 chance (25%) of having a child affected by a recessive condition.
• There is a 1 in 4 chance (25%) of having a child with 2 working genes.
• There is a 1 in 2 chance (50%) of having a child who is a carrier (1 working copy and 1 non-working copy of the gene).

Depending on the carrier status of the parents, siblings may have inherited a non-working copy of the gene, as well. They may wish to pursue carrier testing when they reach reproductive age to determine their own chance of having a child with a genetic condition.

Getting a diagnosis

A small percentage of babies with out-of-range results do have the condition. When these babies undergo confirmatory testing, the result will be out-of-range, as well. In these cases, the newborn screening result is considered a “true positive” since follow-up testing confirms that the child does have the condition. The next step is to get the baby treatment.

Do I need to see a specialist?

If possible, a child with a genetic condition should be treated by a team of doctors and other health care professionals who have special knowledge of the condition. Many of the conditions identified through newborn screening are classified as metabolic conditions because they make it difficult for the body to break down and utilize certain substances found in food. Individuals with these conditions generally benefit from meeting with a metabolic specialist and a dietician since they have unique nutritional needs. Other health issues can be associated with these conditions including developmental delay, which may require special screening, management and therapy. Your baby’s health care provider can help coordinate care with specialists or other medical resources in the community.

Because most conditions found on the newborn screening panel are genetic disorders, families may want to meet with a genetic counselor. The goal of genetic counseling is to help families understand the results of a screen, the causes of genetic conditions, and the impact this diagnosis could have on other family members and future pregnancies. For a referral, speak with your child’s health care provider.

Resources for locating a genetics professional in your community are available online:

• The National Society of Genetic Counselors (https://www.findageneticcounselor.com/) offers a searchable directory of genetic counselors in the United States and Canada. You can search by location, name, area of practice/specialization, and/or ZIP Code.
• The American Board of Genetic Counseling (https://www.abgc.net/about-genetic-counseling/find-a-certified-counselor/) provides a searchable directory of certified genetic counselors worldwide. You can search by practice area, name, organization, or location.
• The Canadian Association of Genetic Counselors (https://www.cagc-accg.ca/index.php?page=225) has a searchable directory of genetic counselors in Canada. You can search by name, distance from an address, province, or services.
• The American College of Medical Genetics and Genomics (http://www.acmg.net/ACMG/Genetic_Services_Directory_Search.aspx) has a searchable database of medical genetics clinic services in the United States.

How can I keep my baby healthy?

A primary health care provider will work with a team of specialists to determine a treatment plan that meets a child’s individual needs. The plan will depend on many things such as the child’s age, weight, general health, and test results. Each condition found on the newborn screening panel is different. Visit the find a condition page (https://www.babysfirsttest.org/newborn-screening/conditions) to learn more about the newborn screening panels and how conditions are selected. Many of these conditions are treated with special diets, while others require medication or other medical interventions. When a treatment plan is started early and followed carefully, a baby has the best chance for normal growth and development. In fact, many babies identified through newborn screening grow up to lead a normal, healthy life.

What does this mean for my family?

Most of the conditions identified through newborn screening are genetic conditions that follow an autosomal recessive pattern of inheritance. This means that they occur when a baby inherits two non-working copies of a particular gene. Children receive pairs of genes from their parents – one set of genes from the father and one set from the mother. Therefore, babies with recessive genetic conditions inherit one non-working gene from the mother and the other from the father.

When a recessive diagnosis is confirmed in a child, it usually means that the parents are “carriers” of the genetic condition. This means that each parent has one copy of the gene that is working correctly and one that is not working correctly. Because recessive conditions result from two non-working copies of the gene, carriers rarely have symptoms of the condition. However, they can pass the non-working copy of the gene on to their children. Therefore, the parents may want to undergo genetic testing to determine their own carrier status, especially if they plan on having more children in the future.

Depending on the carrier status of the parents, siblings may have inherited a non-working copy of the gene, as well. They may wish to pursue carrier testing when they reach reproductive age to determine their own chance of having a child with a genetic condition.