Newborn Screening
From WikiGenetics
Almost every child born in the United States undergoes state-mandated newborn screening. For each state, a small blood sample (“heel stick”) is collected from each newborn within 48 hours of birth and sent to a laboratory for testing for a panel of medical conditions. Newborn screening programs screen for an ever-increasing number of conditions, including phenylketonuria (PKU), sickle cell disease, and hypothyroidism. Every year, about 3,000 newborns test positive for one of these conditions. In the event that a newborn screens positive, early medical intervention can reduce the severity of the condition and possibly even prevent symptoms from occurring.
In the U.S., about 3,000 newborns test positive each year for a medical condition detected via newborn screening. Currently, the conditions screened in each state vary; efforts are underway to develop a national newborn screening program.
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[edit] The importance of newborn screening tests
By law, all newborns are tested for several rare but serious medical conditions. Babies with these conditions may look healthy at birth. If not treated, these conditions can cause health problems such as mental retardation, slow growth, and even death. With treatment, these problems may be prevented.
[edit] Testing procedure and follow-up
A nurse or other medical professional will take a few drops of blood from the baby’s heel. This blood sample is sent to a newborn screening laboratory. The blood should be drawn after the baby is 24 hours old, but before the baby leaves the hospital.
The baby’s doctor will contact the parent(s) if the results are positive for one of the screened conditions. Follow-up testing may be required.
[edit] Retesting
Sometimes, a baby needs to be tested again. This does not necessarily mean that a medical condition is present. Retesting may need to be done if:
- The blood sample was taken before the baby was 24 hours old
- There was a problem with the way the blood sample was taken
- The first test showed a possible medical condition
The baby’s doctor or the state’s newborn screening program will contact the parent(s) if retesting is necessary. It is important to get this testing done right away.
[edit] Tests performed
The tests that are done vary from state to state. In general, the conditions that are tested for fall into one of the following groups:
- Metabolic conditions, which affect how the body processes food
- Endocrine conditions, which affect the levels of important hormones
- Hemoglobin conditions, which affect the blood and cause anemia, infections, and other health problems
- A pulmonary condition, which affects growth and the lungs
For information on the diseases tested for in a particular state, contact that state’s newborn screening program. Testing for more conditions may be available at other laboratories for a fee.
[edit] Treatment
The treatment for each condition is different and may include a special diet, hormones, and/or medications. It is very important to start the treatment of affected infants as soon as possible.
[edit] Newborn screening programs
[edit] Newborn Hearing Screening
Hearing loss is a common condition that is present in as many as 1 in every 300 babies. When hearing loss goes undetected, even for just a year or two, serious delays in speech and language can result. When hearing loss is discovered in infancy, treatment can be started early enough to prevent or lessen these delays.
[edit] Newborn hearing screening programs
- New England
- District of Columbia
- Virginia
- Maryland
- Newborn Hearing Screening Programs in Oregon
- Newborn Hearing Screening Programs in Washington
[edit] References
Genetic Alliance. 2007. Understanding Genetics: A Guide for Patients and Health Professions. http://www.geneticalliance.org/ws_display.asp?filter=pubs.understanding.genetics
[edit] External Links
Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children www.mchb.hrsa.gov/programs/genetics/committee/
American Academy of Pediatrics: Metabolic/Genetic Screening www.medicalhomeinfo.org/screening/newborn.html
Center for Disease Control’s Early Hearing Detection and Intervention Program www.cdc.gov/ncbddd/ehdi/
National Newborn Screening and Genetics Resource Center genes-r-us.uthscsa.edu/
