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Newborn screening is a comprehensive program that includes testing, follow-up of results, and if necessary, examination and treatment by a qualified specialist. Early detection and treatment of the disorders on the newborn screening panel can prevent life long disabilities, including mental retardation, developmental disabilities, and life threatening infections. Without treatment permanent disability, and even death, can occur. Is Newborn Screening testing required? All babies born in New Jersey are required by law to be tested for fifty-four (54) disorders within 48 hours of birth. One heel prick provides enough blood to test for all fifty-four disorders.
Is Newborn Screening a new program? No. New Jersey began testing for Phenylketonuria (PKU), a metabolic disease, in 1964. Since that time, newborn screening has expanded to include detection for more than fifty disorders. Currently, all U.S. states mandate newborn testing for PKU, Congenital Hypothyroidism, Congenital Adrenal Hyperplasia, Galactosemia, and Sickle Cell Anemia.
How is the screening performed? All screening tests are performed on a tiny blood sample, obtained by pricking the heel of your baby. Samples are usually taken at the hospital before your baby is discharged home. The sample is allowed to air dry and is then submitted to the Newborn Screening Laboratory for testing. Any abnormal results are reported to the Newborn Screening and Genetic Services program for follow-up activities.
The tests performed are ‘screening’ tests and are different from diagnostic tests. The screen cannot detect all inborn errors of metabolism. The test may fail to identify some babies with these disorders, and some babies who test positive may not actually have the disorder. Sometimes babies who are born prematurely, who are underweight at birth, or who may have received a blood transfusion can test positive, but not have the disorder. Your baby’s doctor may want to repeat the newborn screening test or do other testing to check the results.
What if my baby needs a retest? Does that mean that my baby has the disorder? Not necessarily. There are several reasons why your baby may need to be retested. Some of those reasons may include:
How will I learn my baby’s results? Make sure that your birth hospital and your baby’s doctor have your correct address and phone number. Your baby’s test results will be sent to your baby’s doctor and to the hospital where the sample was taken. You should ask your baby’s doctor for the test results when you bring the baby in for his/her first checkup. If your baby needs a retest you will be notified by your baby’s doctor or you will get a letter from the Newborn Screening Laboratory or the Newborn Screening Follow-up Program. If your baby does need a retest, get it done right away.
An exception is made when parents object on the grounds that the tests are against their religious beliefs or practices. A signed statement to this effect must be recorded in the baby’s hospital record.
There is no charge to the patient for the state newborn screening test.
How can I get more information? For more information on Newborn Screening in New Jersey you can contact the Newborn Screening Follow-up Program at (609) 292-1582. The following websites have information regarding newborn screening: CENTERS FOR DISEASE CONTROL AND PREVENTION NATIONAL INSTITUTES OF HEALTH MARCH OF DIMES NATIONAL NEWBORN SCREENING AND GENETIC RESOURCECENTER SAVE BABIES THROUGH SCREENING FOUNDATION
What disorders are included on the newborn screening panel?
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