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Newborn Screening: Research Activities and Scientific Advances

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The NICHD has been committed to newborn screening research since its earliest days. A long-term goal has been to identify newborns for conditions that may cause disease and disabilities early enough to intervene with treatments and to prevent symptoms from developing. To achieve this goal, the Institute’s research portfolio focuses on studies to develop new screening methods and novel screening technologies, as well as to find innovative therapies for screenable disorders.

Institute Activities & Advances

Much of the Institute’s newborn screening activities are supported through the Newborn and Population Screening and Diagnosis program within 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

For more information on the Hunter Kelly Newborn Screening Research Program, see the NICHD Spotlight NICHD and Newborn Screening: A New Era.

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

  • In the Unit on Human Copper Metabolism 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 a clinical trial of very early treatment for affected infants could help reduce or eliminate the effects of the disease.
  • 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.

A History of Success

The NICHD has been committed to newborn screening research since its earliest days, with notable successes. In the 1960s, NICHD-supported researchers validated the effectiveness of techniques for detecting Phenylketonuria (PKU), a metabolic disorder that at the time was a primary cause of IDD, and developed an effective and safe dietary intervention for the disorder. Institute-supported research also found a way to detect congenital hypothyroidism (CH), once a leading cause of IDD. Both PKU and CH have been essentially eliminated as causes of IDDs in the United States as a result of NICHD research and newborn screening.

  • Severe Combined Immune Deficiency (SCID)
    NICHD funded an initiative to study the potential of a new technology to screen for SCID, a disorder which leaves an infant without a functioning immune system unless he or she receives early diagnosis and emergency treatment. This research has helped paved the way for the expansion of SCID screening throughout the country.

  • Phenylketonuria
    NICHD-supported research on the intellectual development of infants identified with PKU who were treated with a low-phenylalanine diet clearly showed improved outcomes for these children. Further NICHD research has shown that staying on the diet is beneficial for people with PKU at all ages, and it is particularly important for women with PKU who might become pregnant.
  • Congenital Hypothyroidism
    NICHD-supported investigators developed a screening method for congenital hypothyroidism, a deficiency that leads to abnormal growth and development if not detected at birth and treated with supplemental thyroxine. NICHD studies showed that that those diagnosed at birth and treated appropriately had the same intellectual levels as their siblings without the condition.

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Other Activities & Advances

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

  • The IDDB also supports the Newborn Screening Translational Research Network (NBSTRN) as a resource for research efforts in newborn screening. The NBSTRN works collaboratively with other organizations involved in newborn screening related activities, including federal programs (see next bullet) and organizations such as the Association for Public Health Laboratories, the Genetic Alliance, and the National Newborn Screening and Genetics Resource Center.
  • The NBSTRN 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.   
  • 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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Last Updated Date: 06/25/2013
Last Reviewed Date: 04/12/2013
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