Newborn Screening

Newborn screening programs across the United States currently screen 4 million infants each year. This public health program detects treatable disorders in newborns, allowing treatment to begin often before symptoms or permanent problems occur. Newborn screening not only saves lives but can also improve the health and quality of life for children and their families.

Within the first 24 to 48 hours after birth, babies undergo a simple heel stick and a few drops of blood are collected on a special paper card. Providers test those dried blood spots for a variety of different congenital disorders, or conditions that are present when the baby is born. Newborns are also screened for hearing disorders and certain serious heart problems using methods other than dried blood spots.

NICHD has been at the forefront of research related to newborn screening since the Institute's early days, with notable success. Visit the Brief History of Newborn Screening section for more information.

NICHD research on newborn screening aims to:

  • Improve existing screening techniques and technologies or develop new ones.
  • Expand the number of conditions for which screening tests are available.
  • Develop new treatments and disease-management strategies for conditions that can be detected through newborn screening, but for which treatments are not yet available.

About Newborn Screening

Newborn screening programs across the United States currently screen 4 million infants each year. This public health program detects treatable disorders in newborns, allowing treatment to begin often before symptoms or permanent problems occur. Newborn screening not only saves lives, but can also improve the health and quality of life for children and their families.

Within the first 24 to 48 hours after birth, babies undergo a simple heel stick and a few drops of blood are collected on a special paper card. Health care providers then test those blood spots for a number of congenital disorders (conditions that are present at birth). Infants are also screened for hearing disorders and for other serious heart problems using methods other than dried blood spots.

When a screen is positive for any condition, the newborn's parents are informed that their infant has an "out-of-range" test result for one of the conditions. But a positive screening test does not mean the infant has a disorder. Additional testing is needed to confirm and diagnose the condition.

Only about one out of 300 newborns is later diagnosed with a treatable condition. Once the condition is confirmed, the infant is referred to an appropriate specialist so that treatment can begin as early as possible.

What is the purpose of newborn screening?

The purpose of newborn screening is to detect potentially fatal or disabling conditions in newborns as early as possible, often before the infant displays any signs or symptoms of a disease or condition. Such early detection allows treatment to begin immediately, which reduces or even eliminates the effects of the condition. Many of the conditions detectable in newborn screening, if left untreated, have serious symptoms and effects, such as lifelong nervous system damage; intellectual, developmental, and physical disabilities; and even death.

The Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC), formerly the Discretionary Advisory Committee on Heritable Disorders in Newborns and Children, is the federal government committee charged with reducing morbidity and mortality in newborns and children who have or are at risk for heritable disorders such as sickle cell anemia, cystic fibrosis, and hearing impairment.

The committee issues a Recommended Uniform Screening Panel (RUSP) that identifies a number of core conditions—those that states are highly recommended to screen for—and secondary conditions, for which screening is optional. The committee’s recommendations are based on the Newborn Screening: Towards a Uniform Screening Panel and System (PDF - 975 KB) and on current research evidence, which means that the number of core and secondary conditions may change. As of November 2016, the RUSP included 34 core conditions and 26 secondary conditions. Visit the committee’s website for the latest listing of core and secondary conditions.

The committee also advises the HHS Secretary on the most appropriate application of universal newborn screening tests, technologies, policies, guidelines, and standards. Specifically, the committee provides to the Secretary the following:

  • Advice and recommendations concerning grants and projects authorized under the Heritable Disorders Program administered by the Health Resources and Services Administration;
  • Technical information to develop Heritable Disorders Program policies and priorities that will enhance the ability of the state and local health agencies to provide screening, counseling, and health care services for newborns and children who have or are at risk for heritable disorders; and
  • Recommendations, advice, and information to enhance, expand, or improve the ability of the Secretary to reduce mortality and morbidity from heritable disorders in newborns and children.

Baby’s First Test  and Baby’s First Test en Español  provide a complete list of conditions included in the newborn screening programs for each U.S. state and information about each condition.

What disorders are newborns screened for in the United States?

The Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) issues a Recommended Universal Screening Panel (RUSP) that identifies a number of core conditions—those for which screening is highly recommended—and secondary conditions, for which screening is optional. As of November 2016, the RUSP included 34 core conditions and 26 secondary conditions.

The committee’s recommendations are based on the Newborn Screening: Towards a Uniform Screening Panel and System (PDF - 975 KB) and on current research evidence, which means that the number of core and secondary conditions may change. Visit the committee’s website for the latest listing of core and secondary conditions.

A complete list of the conditions screened for in each state can be found at Baby’s First Test  and Baby’s First Test en Español .

What are some examples of newborn screening successes?

Many conditions included in today's U.S. newborn screening programs no longer cause serious disability or illness because they are detected early and treated immediately—but they once did. The three examples that follow are conditions that cause serious developmental and intellectual disabilities, or death, if they are not detected and treated early. Successful newborn screening for these conditions and follow-up treatment means that babies who might have died or needed specialized long-term care, can now grow into healthy adulthood.

One of the newest additions to the RUSP is an inherited condition, called SCID , that makes a child’s body unable to fight off even mild infections. The condition, also known as “bubble boy syndrome,” causes parts of the immune system to not work properly. If untreated, infants with SCID are unlikely to live past the age of 2 years. However, when SCID is detected and treated early, children can live longer, healthier lives.

SCID is rare, with between 40 and 100 infants diagnosed each year in the United States. Because SCID is a newcomer to the RUSP, not all states screen for it yet, meaning infants with the condition might be getting sick without being diagnosed.

Infants should be evaluated for SCID and other types of immune system problems if they have:

  • A high number of infections
  • Infections that do not improve with antibiotic treatment for 2 or more months
  • Diarrhea
  • Poor weight gain or growth (called “failure to thrive”)
  • Fungal infections in the mouth (called “thrush”) that will not go away

An infant with any of these warning signs should be tested for SCID as soon as possible.

PKU (pronounced fee-nill-key-toe-NURR-ee-uh) is a metabolic disorder that is detected by newborn screening. In PKU, the body cannot digest or process one of the building blocks of proteins, an amino acid called phenylalanine (pronounced fen-l-AL-uh-neen), or Phe (pronounced fee). Phe is found naturally in many foods, especially high-protein foods.

PKU was the first condition for which a screening test was developed, and the first condition for which widespread newborn testing was implemented in the 1960s.

If PKU is left untreated, the Phe builds up in the body and brain. By 3 to 6 months of age, infants with untreated PKU begin to show symptoms of intellectual and developmental disability. These disabilities can become severe if Phe remains at high levels.

Fortunately, PKU is treatable. The treatment consists of a diet containing little or no Phe and higher levels of other amino acids. If children with the condition are placed on this diet at birth, they grow normally and usually show no symptoms or health problems. NICHD-sponsored research has shown that people with PKU should stay on the restricted diet as they enter adulthood and, in fact, throughout their lives. This is especially important for women of childbearing age who wish to or who might become pregnant.

Before newborn screening programs could detect PKU in the first few hours after birth, PKU was one of the leading causes of intellectual and developmental disabilities (IDD) in the United States. Today, as a result of newborn screening programs that allow for almost immediate treatment of the condition, PKU has been virtually eliminated as a cause of IDD in this country.

Another metabolic disorder included in newborn screening is galactosemia (pronounced guh-lak-toe-SEE-me-uh), which means being unable to use galactose (pronounced guh-LAK-tohs). Galactose is one of two simple sugars that make up lactose, the sugar in milk. People with galactosemia cannot have any milk or milk products.

If someone with galactosemia consumes milk or milk products (human or animal), the galactose builds up in their blood and causes serious damage to their liver, brain, kidneys, and eyes. Infants with untreated galactosemia can die of a serious blood infection or of liver failure. Those that may survive usually have IDD and other damage to the brain and nervous system. Even milder forms of galactosemia still require treatment to prevent early cataracts, an unsteady gait, and delays in learning, talking, and growth.

The treatment for galactosemia is not to consume any milk or milk products and to avoid other foods that contain this sugar. If this disease is diagnosed very early and the infant is placed on a strict galactose-free diet, she or he is likely to live a relatively normal life, although mild IDD may still develop. If not placed on a galactose-free diet immediately, an infant will develop symptoms in the first few days after birth.

Before it could be detected either before birth or through a newborn screening program, galactosemia was a frequent cause of IDD and early death. Oregon began screening newborns for galactosemia 50 years ago, and all states now screen for this condition. Screening has identified more than 2,500 infants with the condition, many of whom would have died without the screening. 1

Citations

  1. Pyhtila, B. M., Shaw, K. A., Neumann, S. E., & Fridovich-Keil, J. L. (2015). Newborn screening for galactosemia in the United States: Looking back, looking around, and looking ahead. JIMD Reports, 15, 79–93. Retrieved Aril 6, 2017, from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4413015/

How many newborns are screened in the United States?

Today, all 50 states, the District of Columbia, and the Commonwealth of Puerto Rico have newborn screening programs. This means that nearly every child born in the United States or Puerto Rico is screened shortly after birth.1

  • All states currently require newborn screening for at least 29 health conditions. Each state's public health department decides both the number and types of conditions on its testing panel.2 Most states allow parents to opt out for religious or other reasons.3 Many states also offer supplemental screening programs that screen for disorders beyond those required by the state; costs for these supplemental tests are usually covered by insurance.
  • About 4 million infants are born each year in the United States,4 and most of them are screened.
  • Most states report participation of 99.9% or higher.
  • The latest CDC data show that about 12,500 newborns each year are diagnosed with one of the core conditions detected through newborn screening. This means that almost 1 out of every 300 newborns screened is eventually diagnosed.5
  • Early diagnosis and treatment in many cases can significantly improve the chances of healthy development and positive outcomes and nearly eliminates death from the conditions.

Who pays for newborn screening?

Although most states collect a fee for newborn screening, all U.S. infants go through newborn screening regardless of whether their family can pay for it.6

The specific cost of screening varies from state to state in part because the states test for different conditions and pay for their programs in different ways. Birthing centers and hospitals sometimes bill directly for newborn screening or include the fee in charges for maternity care. Many private and public health insurance programs pay the fees for newborn screening. For example, the State Children's Health Insurance Program or Medicaid can pay the fees for newborn screening for eligible families.

The NewSTEPs  provides information about the cost of newborn screening in each state and the District of Columbia.

Citations

  1. Baby’s First Test. Conditions Screened by State. Retrieved February 19, 2017, from http://www.babysfirsttest.org/newborn-screening/states 
  2. Baby’s First Test. About newborn screening. Retrieved February 19, 2017, from http://www.babysfirsttest.org/newborn-screening/about-newborn-screening 
  3. President’s Council on Bioethics. (2008). The changing moral focus of newborn screening: An ethical analysis by the President’s Council on Bioethics. Washington, DC: President’s Council on Bioethics. Retrieved February 20, 2017, from http://bioethics.georgetown.edu/pcbe/reports/newborn_screening/chapter4.html 
  4. Martin, J. A., Hamilton, B. E., Osterman, M. J. K., Osterman, M.H.S., & Driscoll, A.K. (2017). Births: Final data for 2015. National Vital Statistics Reports, 66(1), 1–67.
  5. CDC. (2012). CDC Grand Rounds: Newborn screening and improved outcomes. Morbidity and Mortality Weekly Report, 61(21), 390–393. Retrieved February 20, 2017, from http://www.cdc.gov/mmwr/preview/mmwrhtml/mm6121a2.htm
  6. Baby’s First Test. (2012). Screening procedures. Retrieved April 3, 2017, from http://www.babysfirsttest.org/newborn-screening/screening-procedures 

How is newborn screening done?

Newborn screening usually starts with a blood test, followed by a hearing test and possibly other tests.

First, hospital staff fill out a newborn screening card with the infant’s vital information—name, sex, weight, and date and time of birth—and the date and time of the blood collection. Part of the card consists of special absorbent paper used to collect the blood sample.1

Blood sample being taken from a newborn's heel for screening

After warming and careful sterilizing of the infant's heel, medical staff do a "heel stick," in which they make a small puncture in the baby's heel and squeeze out a few drops of blood. They put the absorbent part of the card in contact with the blood drop. They continue until all the printed circles on the card contain a blood sample.

The card is then sent to a laboratory, where the blood is tested for the various conditions as part of the newborn screening panel.

Hospital staff typically use one of two methods for the hearing test. Both are quick (5 to 10 minutes) and safe.1

  • Otoacoustic (pronounced oh-toe-uh-KOO-stik) emissions (OAE). This test determines if certain parts of the infant’s ear respond to sound. A miniature earphone and microphone are placed in the ear, and sounds are played. If the infant has normal hearing, the microphone picks up an echo reflected back into the ear canal. Failure to detect an echo means there may be a loss of hearing.
  • Auditory brain stem response (ABR). This test evaluates the auditory brain stem—the part of the auditory nerve that carries sound from the ear to the brain—and the brain’s response to sound. Miniature earphones are placed in the ear, and sounds are played. Electrodes (small, sticky electric conductors) are placed on the infant’s head to detect the brain’s response to the sounds. If the infant’s brain does not respond consistently to the sounds, there may be a hearing problem.

In some cases, hospital staff will perform pulse oximetry (pronounced ox-EM-i-tree) to measure how much oxygen is in the infant's blood. Pulse oximetry is usually performed at least 24 hours after birth. Hospital staff place a sensor on the infant's skin for a couple of minutes, and the sensor measures the level of oxygen in the blood through the skin.

Low blood oxygen can indicate that a newborn has heart problems. Pulse oximetry can help identify infants with a condition called critical congenital heart disease (CCHD).1 According to the Centers for Disease Control and Prevention, 25% of babies with congenital heart disease (one that is present at birth) have a CCHD.2 There is evidence that medical care is allowing more infants with CCHD to survive. One study found that 83% of infants with a CCHD who were born between 1994 and 2005 survived at least 1 year. Only 67% of infants born between 1979 and 1993 with a CCHD lived to 1 year.3

Some states require a second blood test that repeats the initial set of screenings.

  • The first screening is performed 24 to 48 hours after the infant is born, ideally before the infant leaves the hospital. For some conditions, the screening is not valid if the blood is taken within 24 hours of birth.
  • The second screening is performed when the infant is 10 days to 2 weeks old to ensure that the health care provider has the most accurate results possible.

Citations

  1. Baby’s First Test. (2012). Responding to results. Retrieved February 20, 2017, from www.babysfirsttest.org/responding-results 

How are my newborn’s screening results used?

In most cases, parents don't hear anything at all about the results of their baby's newborn screening tests. This usually means that the tests did not detect any of the conditions screened for—or, as the child's health care provider might say, the results were "negative" or "in-range." Parents with concerns should talk with their health care provider and ask about the results.

Most states notify parents only when the results are "positive" or "out of range" for a particular condition(s).1

Out of Range Results

If the screening detects one or more conditions, the result is "positive" or, more accurately, "out of range." The child's health care provider or someone from the state health department will notify the parents, usually within 2 to 3 weeks, if the results are out of range.

This result does not mean the child definitely has the condition detected. Sometimes, the tests produce a "false positive," meaning that even though the test result was positive, the infant does not actually have the disease.

If the test result is positive, it is very important for the infant to undergo additional testing right away to confirm and diagnose any specific condition(s). Screening tests and diagnostic tests are not the same. If a baby is diagnosed with a condition, his or her health care provider and other providers will recommend a course of treatment.

Baby’s First Test  provides a list of the conditions screened for in the newborn screening panel for most states. This list includes symptoms of each condition and the test(s) used to diagnose a condition or confirm a positive screening result.

The Importance of Following Up

Newborn screening is used to detect serious medical conditions. If not treated, some of these conditions can cause lifelong health problems; others can cause death.

If your child’s health care provider or the state health department calls you about your infant’s newborn screening results, it is important to follow up quickly. Follow their instructions to get care for your baby.

Newborn screening makes early diagnosis possible so that treatment can begin immediately—before serious problems can occur or become permanent. This approach helps to ensure the best possible outcomes for babies.

Citations

  1. Baby’s First Test. (2012). Responding to results. Retrieved February 20, 2017, from www.babysfirsttest.org/responding-results 

Brief History of Newborn Screening

NICHD has been at the forefront of newborn screening efforts since the 1960s. One of the Institute's earliest research successes was validation of the mass screening test developed by Dr. Robert Guthrie for the metabolic disorder phenylketonuria (PKU).1

NICHD's mission has always included conducting, promoting, and funding research to detect, treat, and even prevent diseases, including those that cause intellectual and developmental disabilities (IDDs) and other lifelong health problems.1

One of the Institute's early research efforts was a study of the effectiveness of the Phe-restricted diet for children diagnosed with PKU. This research showed that children with PKU who followed a restricted diet (one with limited amounts of the amino acid, Phe) were as healthy at age 7 years as their brothers and sisters who did not have PKU. With an effective and efficient screening technology available, and a proven treatment for it, PKU became the first disorder for which newborns were routinely screened. As a result, every state soon required screening for PKU.1 Today, children with PKU have outcomes similar to children who don't have PKU, and many go on to have their own healthy families.

NICHD continues its involvement in newborn screening. NICHD and its staff aim to identify additional conditions to screen for, develop and test better ways to screen for conditions, study treatments and ways to improve outcomes, educate health care providers about newborn screening, participate in governmental efforts to coordinate and regulate state programs in newborn screening, and sponsor research and training programs related to newborn screening.2

In 2002, the federal Health Resources and Services Administration's Maternal and Child Health Bureau asked the American College of Medical Genetics (ACMG) to develop guidelines for newborn screening. At that time, some states screened for as few as four conditions, and others as many as 50.3

The ACMG looked at 81 conditions and placed 29 of them in a core screening panel, which made up the original Recommended Universal Screening Panel (RUSP). ACMG assigned another 25 conditions to a secondary level of screening because the conditions lacked an effective treatment or because the disease was not well understood. The remaining conditions were deemed not appropriate for newborn screening because no effective screening tool or treatment was available for them.3

In 2003, the majority of U.S. states screened for only six disorders. Since then, understanding of the importance of newborn screening has increased significantly. By April 2011, all states were testing for at least 26 disorders.4 Today, all states screen for at least 29 conditions.

ACMG also came up with procedures for adding conditions to the RUSP, namely that a condition should meet three minimum criteria:

  • The condition can be detected 24 to 48 hours after birth, when it cannot usually be detected by a doctor's exam.
  • It has a test that is specific and sensitive for the condition.
  • Its early detection, timely intervention, and effective treatment offer proven benefit.5

In February 2003, the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) was formed to advise the HHS Secretary on newborn screening.6 ACHDNC worked closely with the ACMG as progress was made toward developing the RUSP and determining whether it could truly serve as a uniform standard for the whole United States.

In September 2005, ACHDNC recommended the RUSP to the HHS Secretary as the nation's newborn screening standard. It was adopted in May 2010 with the addition of severe combined immunodeficiency (SCID).3 The list of screened disorders has since expanded to include critical congenital cyanotic heart disease.7 As of November 2016, the RUSP included 34 core conditions and 26 secondary conditions.8

The Newborn Screening Saves Lives Act of 2007 (P.L. 110-204) (PDF - 138 KB), reauthorized in 2014, (P.L. 113-240) (PDF – 216 KB) included several provisions to expand and strengthen newborn screening nationwide:

  • Established the Clearinghouse of Newborn Screening Information (Baby's First Test )
  • Expanded the responsibilities of the ACHDNC
  • Authorized the renaming of NICHD's research program in newborn screening as the Hunter Kelly Newborn Screening Research Program
  • Established a program to regulate the quality of laboratories that process the newborn screening tests3

NICHD supports the adoption of RUSP and participates in many efforts related to newborn screening research at the federal, state, and local levels. NICHD remains committed to improving newborn screening programs, technologies, and treatments.

Citations

  1. Alexander, D. (2003). The National Institute of Child Health and Human Development and phenylketonuria. Pediatrics, 112, 1514-1515.
  2. Baby's First Test. (2012). Screening resources. Retrieved February 20, 2017, from http://www.babysfirsttest.org/screening-resources 
  3. Secretary's Advisory Committee on Heritable Disorders in Newborns and Children. (2011). 2011 annual report to Congress. Retrieved February 20, 2012, from https://www.hrsa.gov/sites/default/files/hrsa/advisory-committees/heritable-disorders/reports-recommendations/reports/2011-annual-report.pdf (PDF - 871 KB)
  4. Centers for Disease Control and Prevention. (2011). Ten great public health achievements—United States, 2001-2010. Morbidity and Mortality Weekly Report, 60, 619–623. Retrieved February 20, 2017, from http://www.cdc.gov/mmwr/preview/mmwrhtml/mm6019a5.htm
  5. American College of Medical Genetics. (n.d.). Newborn screening: Toward a uniform screening panel and system. Retrieved August 29, 2012, from http://www.ncbi.nlm.nih.gov/pubmed/16735256
  6. Health Resources and Services Administration.(n.d.) Secretary's Advisory Committee on Heritable Disorders in Newborns. Retrieved February 20, 2017, from https://www.hrsa.gov/advisory-committees/heritable-disorders/index.html
  7. Sebelius, K. (2011). Letter to R. Rodney Howell, M.D. Retrieved February 20, 2017, from https://www.hrsa.gov/sites/default/files/hrsa/advisory-committees/heritable-disorders/reports-recommendations/response-congenital-cyanotic.pdf (PDF - 211 KB)
  8. Advisory Committee on Heritable Disorders in Newborns and Children. (2016). Recommended Uniform Screening Panel. Retrieved July 11, 2017, from https://www.hrsa.gov/advisorycommittees/mchbadvisory/heritabledisorders/recommendedpanel/index.html

Who pays for newborn screening?

Most states collect a fee for newborn screening. The specific cost of screening varies from state to state in part because the states test for different conditions and pay for their programs in different ways. Birthing centers and hospitals sometimes bill directly for newborn screening or include the fee in the maternity charges. Many health insurance programs pay the fees for newborn screening. For eligible families, the State Children’s Health Insurance Program or Medicaid can pay the fees for newborn screening.

Infants are tested regardless of their own or their family’s health insurance coverage.1

The NewSTEPs External Web Site Policy provides information about the cost of newborn screening in each state and the District of Columbia.

Citations

  1. Baby’s First Test. (2012). Screening procedures. Retrieved May 14, 2012, from http://www.babysfirsttest.org/screening-procedures External Web Site Policy

NICHD Newborn Screening Research Goals

NICHD's research goals related to newborn screening fall into several broad categories.

  • Identify, develop, and test the most promising newborn screening technologies.
  • Increase the specificity of newborn screening.
  • Expand the number of conditions for which screening tests are available.
  • Improve and evaluate treatments and disease management strategies for detectable conditions that can currently be treated and for other genetic metabolic, hormonal, and/or functional conditions that can be detected through newborn screening for which treatment is not yet available.

Newborn Screening Research Activities and Advances

NICHD has been committed to newborn screening research since its earliest days, with the goal of detecting conditions early enough to intervene, preventing symptoms from developing. To achieve this goal, the Institute's research portfolio includes studies to improve existing and develop new screening methods and novel screening technologies, as well as to find innovative therapies for detectable disorders.

Because many of the conditions detected by newborn screening can cause intellectual and developmental disabilities if not treated, much of the Institute’s newborn screening research activities are supported through the Intellectual and Developmental Disabilities Branch (IDDB). These activities include the Hunter Kelly Newborn Screening Research Program, which focuses on:

  • Identifying, developing, and testing new newborn screening technologies in order to improve existing tests and develop new tests.
  • Developing and testing innovative interventions and treatments for conditions that can be detected through screening but which aren’t yet treatable, and evaluating and improving treatments and strategies for disorders with existing treatments.

For more information on the Hunter Kelly Newborn Screening Research Program, see NICHD Spotlights September Is Newborn Screening Awareness Month and NICHD and Newborn Screening: A New Era.

Other NICHD efforts involve developing newborn screening techniques for specific, often rare disorders. For instance:

  • In the Section on Translational Neuroscience in the Division of Intramural Research (DIR), researchers are working to develop rapid and reliable neurochemical and molecular techniques for newborn screening of Menkes disease among infants who are at high risk for the condition. Menkes is an X-linked recessive disorder of copper transport that presents in infancy with delayed development, failure to thrive, neurodegeneration, and premature death. Newborns identified by the screening test begin receiving treatment immediately, before symptoms arise. The combination of screening research and studies of very early treatment for those affected could help reduce or eliminate the effects of the disease. Some of this work is described in Gene replacement treats copper deficiency disorder in mice.
  • Also in the DIR, the Section on Molecular Dysmorphology is conducting studies related to newborn screening for Niemann-Pick type C, a childhood neurodegenerative disorder that results in ataxia and dementia. These studies aim to identify a blood-based diagnostic/screening test; biomarkers that can be used as tools to facilitate development and implementation of treatments; and clinical symptoms/signs that may be used as efficacy outcome measures for treatments.
  • NIH-funded project leads to FDA-approved newborn screening device

A History of Success

NICHD has been committed to newborn screening research since its earliest days, with notable successes related to severe combined immune deficiency (SCID), phenylketonuria (PKU), and congenital hypothyroidism. Visit Brief History of Newborn Screening to learn more about NICHD’s role in advancing the field.

NICHD is also active in the following activities related to newborn screening:

  • Among the primary ways the IDDB supports newborn screening research is through the Newborn Screening Translational Research Network (NBSTRN). The NBSTRN works collaboratively with other organizations involved in newborn screening–related activities, including federal programs and organizations such as the Association for Public Health Laboratories, the Genetic Alliance, and the National Newborn Screening and Genetics Resource Center.
  • The NBSTRN also provides infrastructure support to researchers working on projects relevant to newborn screening. Current and recently facilitated projects include pilot studies of newborn screening for SCID, natural history studies of inborn errors of metabolism, spinal muscular atrophy, and lysosomal storage diseases, along with the development of novel technologies for screening.
  • NICHD Director Dr. Diana Bianchi is an ex-officio member of the Advisory Committee on Heritable Disorders in Newborns and Children, and several current and former Institute grantees are involved with the committee. Learn more about the committee.
  • The Institute works closely with the Centers for Disease Control and Prevention (CDC) and the Health Resources and Services Administration (HRSA) to:
    • Provide quality control and improvement materials to ensure accurate tests distributed by CDC to states pilot-testing new screenings.
    • Develop clinical decision support tools supported by HRSA (ACTion sheets) to guide infants’ health care providers.
    • Expand pilot studies and databases to enable the diagnosis, treatment, and long-term follow-up of SCID cases.
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