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Newborn Screening Awareness

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  • What Is Newborn Screening?

    What Is Newborn Screening?

    Shortly after birth, newborns are screened for a variety of disorders that are often undetectable by sight. The majority of these disorders are either metabolic or inherited. Metabolic disorders—also known as ‘inborn errors of metabolism’—can occur randomly and, if left untreated, can lead to serious health complications.

    The gene for an inherited disorder can be passed through parents who may not be aware that they’re carriers. Standard screening tests give you a better chance of discovering issues before they become big problems for your baby.

  • Why Is Newborn Screening Necessary?

    Why Is Newborn Screening Necessary?

    Early detection of infant diseases and disorders can often prevent long-term serious illness or death. Disorders such as phenylketonuria (PKU) can result in death if left untreated. If a doctor reaches a diagnosis early enough, however, your baby can go on a special diet that can save his or her life.

    The same is true of diseases like sickle-cell disease. If diagnosed and treated early, sickle cell–related infections can often be avoided, and you can prevent serious health complications.

  • How Are Newborn Screenings Performed?

    How Are Newborn Screenings Performed?

    Newborn screening tests are generally painless and non-invasive. The only test that requires a quick prick of the baby’s heel is a routine blood test. Other standard tests involve placing sensors on the baby’s skin or in its ear, both of which are quick, painless, and can often be done while your baby is asleep.

  • What Are the Most Common Tests?

    What Are the Most Common Tests?

    The 3 most common newborn screening tests involve the blood, ears, and heart.

    Blood Test
    A clinician draws a small amount of blood from the baby’s heel and sends the sample to a newborn screening lab for testing. Blood tests facilitate diagnosis of many metabolic and genetic disorders.

    Hearing Screening
    A physician places electrodes on the baby’s head and record the brain’s response to. Early detection of hearing loss or impairment can ensure that the baby receives proper care necessary to develop his or her communication, language, and social skills to the fullest possible extent.

    Pulse Oximetry Screening
    Sensors connected to a machine called a pulse oximeter are placed on the baby’s skin so that the pulse and blood oxygen level can be measured. The test is quick and painless, and helps doctors to diagnose critical congenital heart defects (CCHD) within hours of birth. Since babies with an untreated CCHD are at high risk of disability or death, it’s essential to diagnose and treat these conditions as soon as possible.

  • Can You Request More Tests?

    Can You Request More Tests?

    Yes. Talk with your obstetrician prior to giving birth to find out which tests are standard in your state, and which are supplemental. Your doctor will be able to help you to determine which supplemental tests (if any) your baby may need, and will help you review the costs associated with them. While you’ll probably be required to pay out-of-pocket for supplemental tests, these may be worthwhile expenses if your newborn is at specific risk for certain diseases or disorders.

    If you have a family history of an inherited disorder, have given birth to a child with a disorder, or have had an infant in your family die of a suspected metabolic disorder, it’s always a good idea to request all standard newborn screenings, as well as any tests that are specific to a condition your baby is at risk of inheriting.

  • Which Tests Are Standard in Certain States?

    Which Tests Are Standard in Certain States?

    Standard newborn screening tests vary by state, and often even by hospital. Each state’s decision on which newborn screening tests are standardized is usually dependent on an analysis of cost versus benefit. Costs include:

    • Risk of false positive results and the anxiety associated with false positives
    • Availability of treatment for detected diseases and disorders
    • Financial expense

    For a comprehensive list of tests offered in each state, visit the National Newborn Screening and Genetics Resource Center [PDF].

  • Targets of Tests

    Targets of Tests

    Tests for the following disorders are usually included in newborn screenings:

    • Phenylketonuria (PKU)
    • Congenital hypothyroidism
    • Galactosemia
    • Sickle cell disease
    • Congenital adrenal hyperplasia
    • Maple syrup urine disease (MSUD)
    • Tyrosinemia
    • Cystic fibrosis
    • Medium chain acyl CoA dehydrogenase deficiency (MCAD deficiency)
    • Toxoplasmosis
    • Hearing impairment

    In addition to these disorders, doctors may also use newborn screening to detect muscular dystrophy, HIV, and neuroblastoma.

  • What If a Test Has Abnormal Results?

    What If a Test Has Abnormal Results?

    Try to keep in mind that a screening test is not the same as a diagnostic test. It’s common for a preliminary screening test to yield positive results and further diagnostic testing to negate these findings. Stay calm and keep a clear mind, so that you’ll be able to talk with your doctor about your baby’s results and the next steps.

    Keep in mind that one of the primary benefits of newborn screening is early diagnosis and treatment that can often prevent serious illness.

  • Finding More Information

    Finding More Information

    Start by talking with your obstetrician to find out what newborn screenings are standard at the hospital where you’ll be delivering, and what (if any) additional tests should be requested. The Centers for Disease Control and Prevention (CDC) provides a comprehensive overview and list of additional resources for newborn screening information.