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A multistate Centers for Disease Control and Prevention (CDC) study was designed to investigate the etiology of congenital hearing loss in infants ascertained through state‐mandated hearing screening or early hearing loss detection and intervention (EHDI) programs. At least 50% of permanent...
Databases that collect clinical information on patients with particular genetic diseases can be used to investigate the clinical history of a disorder, its genetics, and genotype‐phenotype correlations. A database can also serve as a valuable source of patients for studies of disease...
Using a data set of newborn screening specimens tested by the New England Newborn Screening Program (NENSP) between January 1999 and February 2003, we analyzed the number of infants with positive newborn screening results and determined how many positive screening results were due to a recent...
Epidemiology can be used to elucidate environmental causes of birth defects. This paper discusses 1) different types of environmental causes; 2) the difficulties in comparing the prevalence of birth defects between populations, including the need for a population base and the implications of...
Randomized trials, supported by many observational studies, have shown that periconceptional use of folic acid, alone or in multivitamin supplements, is effective for the primary prevention of neural tube defects (NTDs). Whether this is true also for other congenital anomalies is a complex issue...
Recognizing Mendelian disorders should improve health care for persons with strong familial risks for common chronic diseases. The Online Mendelian Inheritance in Man (OMIM) database was reviewed to identify Mendelian disorders featuring 17 common chronic diseases, including 9 cardiovascular...
Developmental disabilities (DDs) are conditions characterized by physical, cognitive, psychological, sensory, adaptive, and/or communication impairments manifested during development. Approximately 17% of individuals in the United States 18 years and younger have a DD, and for most children the...
Genetic testing (predictive analysis that determines genetic alterations in individuals for clinical purposes) and screening (programs that identify persons within a subpopulation who may be at a higher risk for a genetic disease or condition) are increasingly utilized to promote and improve the...
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