Parent Information

Newborn screen

Every newborn in New Jersey is required to be tested for certain diseases.  These diseases were selected because the cost of screening is low and early diagnosis can make a significant difference in the outcome.  Currently, New Jersey screens for the following:

  • Phenylketonuria (PKU)--inability to digest the amino acid phenylalanine, resulting in mental retardation
  • Congenital hypothyroidism--low thyroid hormone levels, resulting in developmental delay
  • Galactosemia--inability to digest the sugar galactose, resulting in cataracts, liver disease, and poor growth
  • Hemoglobinopathies, including sickle cell disease--body produces abnormal hemoglobin with resulting anemia and a variety of medical complications
  • Congenital Adrenal Hyperplasia--the adrenal gland fails to produce certain hormones resulting in salt and water wasting
  • Cystic Fibrosis--a condition where thick mucus accumulates in the lungs and other organs, resulting in frequent lung infections and poor digestion
  • Maple Syrup Urine Disease--inability to digest certain amino acids, resulting in poor feeding and seizures
  • Biotinidase deficiency--inability to process the vitamin biotin, resulting in seizures and developmental delay
  • Fatty Acid Oxidation Disorders--inability to digest fat properly, causing serious illness when a child does not eat
  • Urea Cycle Disorders--ammonia accumulates in the blood, resulting in mental retardation, coma, and death
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All of these tests will be run from a blood sample taken from your baby's heel before discharge from the hospital.  The sample must be taken at least twenty-four hours after a child has a good initial feeding.

While every state screens for diseases, there is currently no national standard for which tests are done.  If your child was born in New York state, you should know that the New York state newborn screen is very extensive and covers just about every test that is run in New Jersey.

Two laboratories in the United States commercially offer supplemental metabolic screening in addition to a state's newborn screen.  The two laboratories--Neo Gen (in Pittsburgh) and Baylor (in Houston) offer a test called Tandom Mass Spectrometry (TMS), which analyzes a newborn's blood for minute quantities of chemical metabolites and can detect the presence of over 30 different rare metabolic disorders.  While each individual disorder is extraordinarily rare, the chances of TMS diagnosing one is as high as one in several thousand.

The only test which the New Jersey newborn screen does not cover that other tests do is G6PD.  If you have a family history of G6PD, you should let us know while your child is in the hospital so that we can add on this test.


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