About Expanded Newborn Screening

What is newborn screening?

Before we talk about newborn screening, it is important to understand the concept of "screening." Screening is a public health service. It is done by testing individuals who are not known to have a disease (are asymptomatic) so that they can be identified and treated before problems occur. Screening is the first step in a two-step process. The first screening test indicates a problem MAY be present, and then a second diagnostic test confirms whether or not the problem or disease is truly present.

Newborn screening is available to all infants in the United States and is done shortly after birth. While most infants look perfectly healthy, there are some diseases that aren't visible. Unless these diseases are treated early, they can cause some damage to the baby. To test for these diseases, a baby's heel is pricked and a small sample of blood is collected. This blood is then tested for several different diseases. If the NBS test is abnormal, follow-up testing must be done to confirm a diagnosis. Most infants with abnormal newborn screening results have normal follow-up testing. Initial NBS results can be abnormal because the blood was drawn too early, the baby is premature and many other reasons. If a baby truly has a disease, treatment is started immediately.

The first disorder screened for in the United States was PKU (phenylketonuria). Infants with this disorder cannot process a part of a protein called phenylalanine which is found in most foods. Without treatment, phenylalanine builds up in the bloodstream and causes mental retardation. Treatment is a special diet low in phenylalanine. By identifying infants with PKU early, it is possible to start treatment before any brain damage has occurred.

What is MS/MS?

MS/MS is an acronym that stands for tandem mass spectrometry. Tandem mass spectrometry is a laboratory technique that is used for many different purposes. In newborn screening, MS/MS testing is used to determine which babies may be at a higher risk to have certain inherited metabolic disorders. These disorders, which are rare, fall into three different biochemical categories - amnio acid disorders, organic acid disorders and fatty acid oxidation disorders. MS/MS screening measures and identifies substances (amino acids and acylcarnitines) in a newborn's blood. Based upon the results of this test, an infant can be identified as having an increased risk to have one of these inherited metabolic disorders. Based upon this increased risk, the infant will need to have follow-up tests to confirm or rule out a diagnosis.

MS/MS testing differs from other NBS tests because it tests for many disorders at one time. Prior to the advent of MS/MS, there was a one-test, one-disease paradigm in NBS. While it seems that getting more information from one test would be advantageous, this shift in paradigm creates some challenges for NBS programs.

What does FELSI mean?

FELSI is an acronym for Financial, Ethical, Legal and Social Issues. The use of MS/MS technology in newborn screening poses many issues. Some of the financial issues are the increased cost of testing and the issue of who is to pay for follow-up testing (which can cost thousands of dollars). The ethical issues include testing for untreatable disorders and storage of testing samples. Legally, newborn screening programs are usually mandated by state law. The addition of MS/MS technology often requires states to update and change their laws which can take quite a long time. Socially, there is the issue of "informed consent." Since newborn screening tests are mandated (required by law), they traditionally have not required an active informed consent process - i.e. the signing of a document. Instead, parents are given educational and informational materials. As newborn screening expands, will this educational method suffice or will changes need to be made? Who will decide this question - legislators, health care professional and/or parents? This project is designed to examine these issues in great detail.

What states are involved in this project?

This project was a collaboration among six states in the western United States - Hawaii, California, Oregon, Washington, Alaska and Idaho. Each of these states has newborn screening programs. The genetics and newborn screening coordinators along with project staff researched at FELSI issues surrounding screening using new technology as well as developing educational materials for parents. States participating in the MS/MS Felsi Project.

What does my state screen for?

Currently, states screen for a panel of slightly different disorders. This variability in newborn screening testing is due to a number of factors - the cost of the test, the laws of the state, the incidence of the disorder in that state, and the amount of money that NBS programs get from their legislators. To learn more about what disorders your state screens for, click here: State Newborn Screening Program Links

Which states offer NBS by MS/MS?

To learn which states offer some form of NBS by MS/MS click here: MS/MS Webpages by State