The NICHD has been committed to newborn screening research since its earliest days. A long-term goal has been to find ways to screen newborns for conditions that cause 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
Within the Intellectual and Developmental Disabilities Branch (IDDB), the Prenatal Diagnosis, Newborn Screening, & Population Screening & Diagnosis program focuses on developing and refining screening methods for the early diagnosis of conditions leading to IDDs. The IDDB also supports studies on identifying infants at risk for IDDs. Intervention studies explore the processes underlying interventions that lead to meaningful, persistent behavioral and/or developmental gains in persons with diagnosed IDDs or those at risk for disability. These studies involve examining the basic mechanisms underlying simple and complex learning, environmental influences on outcome, technological means of achieving desired outcomes, and the development and testing of pharmacological interventions.
Within the Epidemiology Branch of the Division of Epidemiology, Statistics & Prevention Research (DESPR), epidemiologic research focuses on fetal and pediatric health endpoints to identify underlying etiologic mechanisms, at-risk subgroups, and interventions aimed at diagnosing or treating disease. Researchers are attempting to develop models for identifying infants and children in need of developmental assessment, diagnosis, and early intervention. Other studies include examining the effects of heavy alcohol exposure on the fetus, as well as investigations of the etiology of birth defects, particularly neural tube defects.
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 very early diagnosis of Menkes disease, an X-linked recessive disorder of copper transport that presents in infancy with delayed development, failure to thrive, neurodegeneration, and premature death. These efforts accompany a clinical trial of very early copper histidine treatment for affected infants. These studies employ cell biological, molecular, and biochemical approaches to characterize enrolled patients and correlate with neurodevelopmental outcomes.
Also in the DIR, the Section on Molecular Dysmorphology is conducting studies related to screening for Niemann-Pick type C, a childhood neurodegenerative disorder that results in ataxia and dementia. These studies aim to identify (i) a blood-based diagnostic/screening test, (ii) biomarkers that can be used as tools to facilitate development and implementation of therapeutic trials, and (iii) clinical symptoms/signs that may be used as efficacy outcome measures in a therapeutic trial.
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 IDDIDD, 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.
- 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.
Other Activities & Advances
The NICHD is also active in the following activities related to newborn screening:
- The Hunter Kelly Newborn Screening Research Program, supported through the IDDB, focuses on developing systematic methods to identify additional conditions appropriate for newborn screening, developing and testing innovative interventions and treatments to improve outcomes, educating the provider workforce, developing and implementing appropriate information and communication systems for parents and providers, and sponsoring ongoing programs of research and research training. For more information on the Program, see the NICHD Spotlight NICHD and Newborn Screening: A New Era.
- 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 below) and organizations such as the Association for Public Health Laboratories, the Genetic Alliance, and the National Newborn Screening and Genetics Resource Center.
- 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 severe combined immunodeficiency disease cases.