نتایج جستجو برای: newborn screening
تعداد نتایج: 275700 فیلتر نتایج به سال:
OBJECTIVE To measure parental tolerance for a false-positive newborn screening result by assessing perceived quality of life for screening results and health states associated with expanded newborn screening programs for metabolic disorders. DESIGN Perceived quality of life was measured using time trade-off and willingness-to-pay questions for a false-positive newborn screening result and oth...
Objectives: To understand public awareness of newborn screening and public views on criteria needed for a disorder to be included in universal newborn screening. Methods: Adults in waiting rooms of internal medicine and pediatric clinics completed a survey. Results: 55% of participants (n=213) were unaware that all newborns are screened at birth for certain disorders. Nearly 60% supported scree...
BACKGROUND There is no consensus in the literature regarding the impact of false positive newborn screening results on early health care utilization patterns. We evaluated the impact of false positive newborn screening results for medium-chain acyl-CoA dehydrogenase deficiency (MCADD) in a cohort of Ontario infants. METHODS The cohort included all children who received newborn screening in On...
CPT1A enzyme deficiency is a rare metabolic disorder of mitochondrial fatty acid oxidation, with late manifestations during infancy or childhood, including hypoketotic hypoglycemia and hepatic encephalopathy. Newborn screening in several countries include pre-symptomatic detection deficiency, which helps early diagnosis better management the disorder. We report here case detected pre-symptomati...
Introduction: Newborn hearing screening leads to the early detection of hearing impairment. The aim of screening is to decrease or remove the effect of hearing impairment on development of speech and language by timely diagnosis and effective treatment. A number of risk factors lead to delayed start of decreased hearing ability including: 1. Congenital infection with cytomegalovirus (CMV) viru...
BACKGROUND Newborn screening programs have expanded over the years; currently, many programs screen for dozens of congenital conditions that, if not detected and treated early, could result in catastrophic health consequences, including death. Some programs, however, still require universal newborn screening for only a few conditions. Although all 51 US programs (all states and the District of ...
Newborn screening is a public health program that benefits 4 million U.S. infants every year by enabling early detection of serious conditions, thus affording the opportunity for timely intervention to optimize outcomes (1). States and other U.S. jurisdictions decide whether and how to regulate newborn screening practices. Most newborn screening is done through laboratory analyses of dried bloo...
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