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.

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.

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.

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.

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 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.

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.

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.

The Connecticut Newborn Screening Program includes: laboratory screening, hearing screening, and birth defects screening. CT State Law mandates that each institution that provides childbirth services, shall implement a universal newborn laboratory, hearing and birth defects screening program as part of its standard of care.

Comprehensive newborn screening is a simple blood test where a heel prick is performed on the baby to get a few drops of blood. The test should be done 24-48 hours after birth. The test is used to identify many life-threatening genetic disorders including Propionic Acidemia. Each state determines which disorders are included in their newborn screening panel. If your state does not screen for Propionic Acidemia, you can have your child tested through an independent laboratory.

Most children born with these problems are from healthy families and appear healthy at birth. Parents who have already had healthy children do not expect any problems with birth defects. Because every baby is tested soon after birth, any child who may have a disorder is identified early and can get early care.