The Branch supports studies focused on developing safe, non-invasive, relatively inexpensive, and accurate techniques for prenatal diagnosis that practitioners can use during a woman’s first trimester of pregnancy.  Newborn screening has also moved to the forefront in recent years, especially with the expansion of screening panels that use tandem mass spectrometry. 

Diagnosis of Mental Retardation--The effort to develop and refine screening methods is essential to prevention and therapy. Emphasis is placed on studies concerned with the early diagnosis of conditions leading to mental retardation. Prenatal diagnostic techniques are of particular interest, as is research on diagnosis of co-morbid conditions in persons with mental retardation and other developmental disorders.

Epidemiology of Mental Retardation--The Branch supports studies dealing with the identification of persons and population groups at risk for mental retardation and other developmental disabilities. Monitoring the frequency of abnormal genes is a prerequisite to understanding actions that may be taken to modify genetic disease. Studies on genetic susceptibilities and differences are encouraged, along with research to track long-term effects of interventions currently in practice.

Early Identification and Interventions for Infants and Young Children at Risk for Mental Retardation--Intervention studies can identify the processes that lead to meaningful, persistent behavioral and/or developmental gains in persons with diagnosed mental retardation or developmental disabilities or those at risk for disability. This includes studies of 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.