Expanded Newborn Screening detects certain metabolic disorders (disorders of body chemistry). These disorders affect the body's ability to break down proteins or fats.

This test is often referred to as the PKU or heel-stick test. It tests babies for serious disorders and is usually performed when your baby is 24-48 hours old. Ideally, the specimen should be sent to the laboratory by the fastest way possible to prevent delay.

A false positive hearing screening test result is when a baby does not have a hearing loss but the newborn does not pass the hearing screening. Hearing screening tests are not meant to diagnose hearing loss in infants. Instead, they are meant to find all infants that might have a hearing loss. Because they are not a diagnostic test, hearing screening tests sometimes misidentify infants as having a hearing loss.

Newborn screening is a comprehensive program that includes testing, follow-up, examination by a qualified specialist and, if necessary, treatment. Early detection and treatment of these disorders can prevent life long disabilities, including mental retardation, developmental disabilities, and life threatening infections. Without treatment permanent disability, and even death, can occur.

Every baby born in the United States receives a newborn screening test. Each state screens for a different number of inherited disorders. The UCHSC Expanded Newborn Screening Program allows parents to have their babies screened for over 20 disorders -- the number of disorders recommended by American College of Medical Genetics (ACMG) and the March of Dimes.

Early diagnosis and treatment of these metabolic disorders can help prevent serious medical problems like mental retardation, physical disability, and even death.

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This test is offered to all babies within the first week of life. It identifies babies who may have rare but serious conditions. Most babies screened will not have any of the conditions but, for the small numbers that do the benefits of screening are enormous. Early treatment can improve their health and prevent severe disability or even death. About 1 in 10000 babies born in the UK has phenylketonuria.

All babies born in New Jersey are required by law to be tested for twenty (20) disorders within 48 hours of birth. One heel prick provides enough blood to test for all disorders.

Phenylketonuria (PKU) was the first metabolic disorders to be detected by using the dried blood spot. New Jersey began testing for PKU in 1965. During the next forty years, newborn screening has expanded to include detection for more than forty disorders. Currently, all states and U.S. territories mandate newborn testing for PKU and congenital hypothyroidism.

The California Department of Health Services has information on their web site at http://www.dhs.ca.gov/pcfh/cms/nhsp/default.htm

Yes. Older children also can be supplementally screened. Contact one of the laboratories that offer supplemental screening for directions.

If you have health insurance, ask the plan administrator or the insurance company if supplemental newborn screening is covered. The CPT (claim code) for insurance purposes is 83788. The Save Babies Through Screening Foundation has a limited number of free newborn screening packets available each month for expectant parents who qualify. Click on Packets for Parents for information.

TDSHS will bill the person or facility that orders kits for non-Medicaid, non-CHIP, or non-charity care newborns. A.TDSHS considered billing patients, but found that administrative costs would more than double the cost of the service. Minimizing administrative costs by charging providers for screening kits represented the most cost-effective approach to recover funds.

First Step tests babies for serious disorders and is usually performed when your baby is 24 - 72 hours old. Ideally, the specimen should be sent to the laboratory by the fastest way possible to prevent delay.

Newborn screening is ideally done on the 48th hour or at least 24 hours from birth. Some disorders are not detected if the test is done earlier than 24 hours. The baby must be screened again after 2 weeks for more accurate results. top

Because supplemental screening has not been available everywhere until recently, your doctor may not know about supplemental screening. Be prepared that you may have to supply your doctor with information on supplemental screening. Click on the following links to obtain materials to print out and give to your doctor. A Parent's Guide to NBS, and About Save Babies Through Screening Foundation. If you prefer to order the pamphlets click here.

In 1964, the CT Statewide Laboratory Newborn Screening Program was started with the screening for phenylketonuria (PKU) and galactosemia. Through the years disorders were added to the screening panel. CT has joined other states by implementing the expanded screening using the Tandem Mass Spectrometry Instrument. Currently, Connecticut newborns are screened for 40 disorders.

The most important intervention for heart disease is prevention & modification if CAD is already present Therefore risk factors that need to be addressed are diabetes, high cholesterol and smoking cessation.

Scientific data do not currently suggest that there is a single "best test" for any one person. Each test has advantages and disadvantages. Patients and their doctors are encouraged to discuss the benefits and potential risks associated with each screening option as they decide which test to use and how often the patient should be tested. Which test to use will depend on:

For the screening test, women are asked to drink a 50-gram sugar soda within 5 minutes time. Their blood is drawn 1 hour later. They do not have to fast for this test and there are no special dietary restrictions. Women should remain seated throughout the entire hour and should not smoke. If the 1-hour test is abnormal (equal to or greater than 140 mg/dl but less than 200 mg/dl), a 3-hour glucose tolerance test is needed. This blood test is done in the morning.

Hearing loss in an infant or child cannot be confirmed with one test alone. Several tests must be done to check different parts and different functions of the ear. Audiologists refer to a group of tests as a “battery of tests”. Because Behavioral Audiometry Evaluation tests the function of all parts of the ear, it is considered fundamental to the battery of tests used to evaluate older infants and children for hearing loss.

Some screening and test results are available immediately. Others are delivered by mail or the Internet, at your option, usually within seven business days. If you elect to receive results by mail, you will receive your results within seven business days. If you would prefer to check results over the Internet, then you will receive an email within four business days with a unique user name and password.

A small amount of blood is drawn from a vein in the pregnant woman's arm and several substances in the blood are measured. The results are affected by many factors, including: Whether she has a single or multiple pregnancy. These factors, as well as the woman's age and any significant family history, are taken into account in calculating the individual patient's specific risks.

The Newborn Hearing Screening Program (NHSP) is a comprehensive coordinated system of early identification and provision of appropriate intervention and support services for infants with hearing loss and their families. The goal of the program is to identify infants with a hearing loss prior to three months of age and to link infants with early intervention services by six months of age.