What is Newborn Screening

A few drops of blood are collected from the baby’s heel and put on a special filter paper. This paper is then sent to the Maryland State Health Department’s Newborn Screening Laboratory where the tests are performed. The few drops of blood are screened over 50 different conditions. These conditions include:
Inability to break down different proteins
Inability to break down different fats for energy

Presence of abnormal red blood cells or sickle cell disease

Abnormal thyroid function (congenital hypothyroidism)

Abnormal adrenal glands (congenital adrenal hyperplasia)

Cystic fibrosis
Severe Combined Immunodeficiency Disorder (added in April 2016)
Newborn Metabolic Screening is only a screening test and identifies babies that are “at risk” for potential problems. If your baby is identified as “at risk”, it does not mean your baby has the condition. It means your baby needs further testing to see if he or she has the condition. 
If your baby’s Newborn Metabolic Screen results show he or she is “at risk”, the results are reported to the Newborn Screening Follow-up staff, a specially trained team of health care providers. A member of the follow-up staff will contact your baby’s doctor. If they cannot identify your baby’s doctor, the follow-up staff may call you directly to find out this information and to check on the baby.
If your baby screens “at risk” for a possible condition he or she may look very healthy. The goal of newborn screening is to identify babies while they are still healthy and to get them early treatment to help prevent them from getting sick. Remember, most babies look healthy even if they have one of these conditions and most babies with these conditions do not have a family history of genetic problems.
As noted previously, the Maryland newborn screening panel contains over 50 different conditions, but there are a few conditions that are not currently included on our panel.  These conditions, such as Krabbe Disease and other lysosomal storage disorders are very rare, but they can cause severe neurological problems or even death.  New treatments are being identified by specialists across the country which may help individuals with these conditions.  If you would like your baby screened for these supplemental conditions, you can talk to your baby’s primary care provider about obtaining this additional screening through another laboratory.  PerkinElmer Genetics offers this screening, as well as Mayo Medical Laboratories.  Other laboratories may also offer this screening.  In addition to talking to your baby’s provider, you can also directly purchase a screening kit through Hunter's Hope for a discounted price.  The Hunter’s Hope website also has a lot of information for you on Krabbe and other lysosomal storage disorders. 
For information on Newborn Metabolic Screening regulations in Maryland, click here.