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Newborn screening is one of the great medical successes of the 21st century. It stands alongside vaccination and the reduction in smoking in its impact on public health.(1) Screening is the practice of testing every newborn for certain harmful or potentially fatal conditions. Infnts are typically screened at birth for hearing loss and certain genetic, endocrine, and metabolic disorders that would otherwise go undetected until it was too late.
Screening for Life-Threatening Conditions
A recent report in the Morbidity and Mortality Weekly updates the current status of the United States Newborn Screening program and notes that although the program is highly successful and greatly expanded from its original scope, there is still room for improvement. Screening technology lags in some states, and there may be no immediate or long-term management of infants identified with abnormal conditions.(2)
Parents-to-be should understand that the goal is to screen for conditions for which very early intervention can significantly change long-term outcomes. Most of these conditions can be identified by a blood test, which is obtained before discharge from the nursery or within 1-2 weeks of life if the infant leaves the hospital sooner than 24 hours.
The ability to follow up on positive tests efficiently for final diagnostic confirmation, and the ability to provide appropriate medical care and guidance to avert potential consequences of the identified condition are critical to any screening program. The tests that are currently done identify conditions in which changes in diet, use of medication, increased medical surveillance, and early intervention can all prevent or ameliorate poor outcomes such as poor growth, severe developmental delay, organ damage, and death.
Some of these conditions require lifelong interventions. For example, individuals with PKU must follow a low phenylalanine diet throughout their lives, but in doing so can avoid mental retardation. People with congenital hypothyroidism can have normal growth and development by taking oral thyroid hormone supplement.
Those with sickle cell disease can avoid life-threatening infections with prophylactic antibiotic. Those with hearing loss can be remediated early to help promote language development. One estimate puts the cost of screening for congenital hypothyroidism at $5 per infant. Though it is difficult to determine the cost-benefit exactly, one study found the potential health benefit of testing 4 million infants for congenital hypothyroidism was a total gain of nearly 15,000 IQ points.(3)
Background and History
Newborn screening in the United States began in the 1960s with the advent of screening for phenylketonuria (PKU) and congenital hypothyroidism. It is a state-based system that involves screening, diagnostic follow up, education, and of course, treatment.
State laboratories receive training, support, technical assistance, and consultation from the Centers for Disease Control in the form of a quality assurance program. In 2006 a group convened by the American College of Medical Genetics recommended a uniform screening panel of 29 core conditions. States, basing their decision on the risks, benefits and costs of the screening test, have the final say as to what tests to include in their panel. When additional conditions are identified as candidates for screening, they are nominated and reviewed for inclusion by the Advisory Committee on Hereditable Disorders in Newborns and Children.