Frequently Asked Questions about Newborn Screening



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  What is newborn screening?
    Newborn screening is the practice of testing every newborn to detect harmful or potentially fatal conditions that are not otherwise apparent at birth. Many of these are metabolic conditions which interfere with the body’s use of nutrients to maintain healthy tissues and produce energy. Other conditions may be detected through newborn screening include problems with hormones or blood.

    A positive newborn screen does not necessarily mean a child has a condition. When a child has a positive screen, the parents and the child’s doctor are notified so further testing can be done to determine if the child has a condition. Further testing is commonly known as a repeat screen or newborn screening follow up.

  No one in my family has any of these conditions, why does my baby need testing?
  • The conditions screened for as part of newborn screening programs usually have vague or no symptoms during the first few weeks of life. If a baby is not screened or diagnosed, the condition can cause harmful and possibly fatal affects to your baby. Unfortunately, these types of conditions are rarely suspected through family history and require the screening and diagnosis process to start treatment before your baby shows symptoms.
  • The conditions for which your baby will be tested are rare. However, they also are very serious and can result in mental retardation and/or death if not treated. Babies with these conditions appear normal at birth. It is only with time the condition affects the baby's mental or physical development or causes other medical problems. By then the damage may be permanent. The newborn screen helps to identify the babies needing treatment, such as a special diet or medication. Only additional testing (diagnostic testing) can tell if the baby really has the condition. Screening tests are not always accurate and may not always detect the possibility of a condition. In any case, if your baby does not seem well, talk to your baby's doctor as soon as possible.
  • Parents who have no family history of problems and/or who have already had healthy children can still have children with these conditions. In fact, most children with these conditions come from families with no previous history of the condition.



  What conditions are screened for?
    Currently, all state programs have screening tests for Phenylketonuria (PKU) and Congenital Hypothyroidism. Region 4 Genetics Collaborative States (Illinois, Indiana, Kentucky, Ohio, Minnesota, Michigan and Wisconsin) provide screenings for a variety of amino acid, endocrine, fatty acid, organic acid and other conditions. To find the heritable conditions currently screened for in your state, go to the National Newborn Screening & Genetics Resource Center.

  What is the process for my baby?
  • Before you leave the hospital, a test will be done, called a heel stick, to collect a few drops of blood for the newborn screening card. The card also will have information such as the infant’s name, date of birth, weight, mother’s name, address and phone number. This information also should include the name and contact information of the primary care provider who will be responsible for caring for the infant.
  • This blood specimen can be used to screen for several conditions. After the collection, the blood specimen is sent to a laboratory for testing and the results are sent to the health professional responsible for your baby’s care.
  • Blood specimens should be collected from newborns according to the guidelines and protocols issued by your state’s newborn screening program. If a specimen is drawn before 24 hours of age, some conditions may not be detected. If the blood is drawn after 48 hours of age, there could be a life-threatening delay in providing care to an affected infant.



  What is the heel stick process?
    The heel stick test is generally done right before your baby is discharged. Your baby’s heel will be pricked and a few drops of blood will be taken. The nurse will collect nine or ten drops of blood and place it on a filter paper. The sample is called a “blood spot”. The dried blood on the filter paper is a apart of the newborn screening specimen card and is sent to a laboratory and tested.

  What does the newborn screening specimen card look like?
    The nurse who performs the heel stick will fill out a newborn screening specimen card. This card contains the filter paper with your baby’s heel stick blood sample and important information for the lab performing the screening such as your baby’s name, sex, weight, date and time of birth, date and time of heel stick collection, who the specimen was collected by, date, time and type of first feeding, mother’s name, date of birth, address, phone number and alternative contact for baby’s family and your doctor’s phone number for follow up.

  What are the benefits of having my baby tested?
    Newborn screening programs provide accurate and timely screening of newborns for evidence of rare conditions. It is vital that these conditions be detected and treatment started early to prevent life long health consequences, and in some cases, premature death. Newborn screening benefits children through these three components:
    • Laboratory screening to identify the possibility of a condition
    • Follow-up, to ensure early diagnosis
    • Medical management of diagnosed infants
    The three components work together to identify children who are at risk for a condition, diagnose their condition and assure appropriate treatment or intervention follows.

  Are there risks associated with Newborn Screening?
    Not with the tests themselves. They are simple, safe, and efficient. While the baby may experience some brief discomfort from the heel stick, it heals quickly and leaves no scar.

  When should the test be administered?
    Although the best time to collect the specimen is after a newborn is 24 hours old there are some instances where the blood must be drawn sooner. These include: Families who desire early discharge (before 24 hours of age) and transfers of sick or premature newborns to other hospitals. In these cases, the newborn screen should be obtained before the infant leaves the hospital (for any reason), regardless of the age of the infant. If the newborn is fewer than 24 hours old when the first sample is collected, a repeat specimen will be necessary.

  How will I receive my baby’s results?
    At the hospital, when your baby is screened, the name of the baby’s doctor will be written on the newborn screening card. Results of your baby’s newborn screen will be sent to the doctor’s office. It is common to have the first routine medical appointment with your baby's primary doctor within a week or so after going home from the newborn nursery. That is a perfect time to review the results of newborn screening. Ask about the newborn screening results if your doctor doesn't bring them up because, if there is any retesting required, it is best to proceed right away.

  What is the “newborn screening panel”?
    The newborn screening panel is the listing of conditions your state’s newborn screening program will check your baby’s heel stick sample for. For a listing of your state’s newborn screening panel, please follow this link: Learn about Newborn Screening in your State.

  Are the screenings/testing the same no matter what state I live in?
    Although the heel stick blood sample process is the same, and all require a newborn screening test be performed on babies born in their state, each state determines which conditions will be screened. The newborn screening test is capable of screening for more than 50 conditions, yet most states screen for fewer than that. Learn about Newborn Screening in your State.

  What about supplemental testing?
  • Supplemental screening includes tests for additional conditions that are not currently included in your state’s newborn screening panel. Various laboratories offer this screening for an additional fee. However, it must be noted, not all supplemental screening panels include the same conditions. Some may not include all of the conditions that are currently mandated and screened for in your state.
  • If you request supplement newborn screening, the specimen should be collected at the same time as the state mandated specimen. Supplemental newborn screening should never be used to replace the state mandated newborn screening panel, even if the supplemental screen includes all of the conditions screened for in your state.



  Can I refuse the screening for my baby?
    Newborn screening is designed to identify serious diseases in infants at an early age, so early treatment can be provided to provide the best outcomes for babies with these conditions. Newborn screening is considered standard of care for your baby and is highly recommended; any decision to decline testing should first be discussed with a health care provider. You may refuse the test if your religious beliefs and practices do not allow them. If you refuse to have the tests done, you must sign the back of the newborn screening card which states you refused to have your baby tested for the inherited conditions. You have the right to ask your doctor or certified nurse midwife to discuss the screening process and to provide the screening result to you.

  How much does the screening cost?

  What happens if the baby has a positive screen result?
    a. Ideally, parents are informed that their infant has a positive newborn screening result by their child’s pediatrician. This is why it is important to be sure the doctor’s information is on the newborn screening card. Upon notification of a positive screen, the doctor will contact the family to arrange further testing or treatment. A positive newborn screening result is serious. Immediate follow-up is necessary with your healthcare provider.

  What if the test results are abnormal?
  • If your child’s test shows an abnormal result, you will be notified and given directions about what to do next. Do not panic. Remember, most babies who have abnormal screens have additional testing that shows they do not have the condition of concern. However, because of the serious nature of the conditions on the newborn screening panel, you must quickly and carefully follow the directions of your baby’s doctor. It is important that you advise your doctor if you move or change phone numbers soon after your baby is born in case there is a problem with your baby's test. The sooner the follow-up testing can be completed, the sooner the treatment can begin if your baby is found to have the condition. This will ensure the best possible outcome for your baby<./li>
  • The chance that an infant will have one of these conditions is small. About two to three percent of infants screened will have a positive result. Annually, approximately 1/1000 infants will be diagnosed with one of the conditions included in newborn screening. In these cases, early diagnosis and treatment may prevent many of the adverse outcomes associated with these conditions when they are left untreated. All abnormal screen results should be taken seriously and recommended follow-up should be done as soon as possible.


  What does “newborn screening follow up” mean?
  • Follow-up of positive newborn screening results is important to the health of the infant. All newborn screening programs have a process in place to notify appropriate health care professionals if the screen is positive. Generally, screened specimens which produce a positive result are reviewed by the newborn screening lab and sent to the newborn screening program personnel who will then contact your baby’s healthcare provider or pediatrician listed on the specimen card. Your doctor will contact you to discuss the results and arrange for further testing or treatment
  • Often, notifying your doctor of positive results is done by both phone and fax, and includes specific instructions. These instructions could include arranging for a repeat screen or diagnostic test; or, for very serious cases, immediate referral to a specialist.
  • As a parent, you need to know that if your child has one of the conditions identified by newborn screening, there is help. Changes in diet, treatment and special doctors will help your child stay healthy.

  What does a “repeat screen” mean?
    Sometimes a heel stick sample is not satisfactory for laboratories to conduct screening; this can be due to a variety of factors unrelated to the health of your baby. If there is a need to send in a repeat sample when the lab notifies the physician or hospital that a specimen is unsatisfactory, your health care provider will contact you and assist you in the process outlined by your state newborn screening program to obtain a new sample.

  What is newborn diagnostic testing and how is it different from newborn screening?
    Newborn screening and newborn diagnostic testing are NOT the same. The newborn screening provides a result that requires diagnostic testing for further understanding of the condition. The diagnostic testing is performed after the screening to determine the specifics of the condition, what treatment is appropriate and other factors pertaining to the condition.

  As a parent, what do I need to do?
  • Prior to having your baby, choose a primary care provider or pediatrician for their care.
  • Immediately notify the doctor of any changes in contact information so any updates or information can reach you in a timely fashion.
  • Ask about the newborn screening results at your baby’s first well-baby visit.
  • Be aware that a positive newborn screening result requires prompt follow-up as directed by your newborn’s physician, advanced practice nurse or clinic.



  How will the condition be treated?
    Each condition is different. Some are treated with a special diet and others with medicine. If treated early, many babies grow up to lead a normal, healthy life. In a few cases, the conditions may not be completely treatable. Early diagnosis and treatment will allow your baby the best chance of normal growth and development.

  What sorts of resources are available?


  How can I contact my state newborn screening program?


  What is done with blood specimens and the newborn screening results?
    Newborn screening state programs adhere to guidelines they set for storage of specimen cards, results, and other data related to the infant and family. Some states store the newborn screening card indefinitely, while other states store for a specified amount of time. For more information on your state’s procedures Learn about Newborn Screening in your State.

  What are the goals of state newborn screening?
    The goal of newborn screening is early identification of children at risk for selected metabolic or genetic diseases so that medical treatment can be given to prevent potential medical crises.

  What do I need to know about newborn hearing screening?
  • Improvements in technology have made newborn hearing screening safe, easy, and fast. There are two types of hearing screening procedures (Auditory Brainstem Response or Otoacoustic Emissions) that are used to screen newborns for hearing loss. Both procedures are very safe and take only minutes to evaluate each ear. Most infants sleep through their hearing screening.
  • Some infants do not "pass" the first hearing screen and require a second evaluation. An infant may have been too active, had debris in the ear canal, or was discharged from the hospital before the hearing screen was completed. Hearing screening results are reported as: Pass, Refer, or Fail. Infants with a “refer”/“fail” result should receive additional testing.



  What are the goals of hearing screening?
    The American Academy of Audiology, the American Academy of Pediatrics, the American Speech-Language-Hearing Association, the Council on Education of the Deaf, and the Directors of Speech and Hearing Programs in State Health and Welfare Agencies have joined together to endorse universal detection of infants with hearing loss. The goal is that all infants will have their hearing screened by one month of age. It is expected that those with hearing loss will be identified before three months of age and receive intervention by six months of age. Unlike blood spot screening, newborns screened for hearing loss will have the results of their screen available immediately. Often the newborn hearing screen takes place on-site in a hospital before an infant is discharged and the results may be shared directly with the infant’s parents. Some hospitals, particularly those with fewer births, screen their newborns through out-patient programs. Out-patient programs may involve primary care clinics, public health offices, contract service providers, or home visits.

  How can I contact my state newborn hearing screening program?