In the United States, routine evaluation of a newborn includes a number of laboratory tests. These tests are valuable because they have the potential to identify diseases and disorders before symptoms appear. Early detection allows treatment that may prevent development of serious problems.
Newborns can now be screened for up to 55 conditions and diseases. Most of the screening tests are done on a spot of blood obtained from a prick of the heel. A single blood sample can be used to perform many different tests at the same time.
The types of conditions and diseases for newborn testing fall into three basic categories.
- Screening tests for Congenital Disorders: A panel of 29 tests is recommended for all newborns. Many states mandate that all 29 be done on every newborn; other states mandate some, but not all, of these tests.
- Tests for Infectious Diseases: Testing for infectious diseases is typically done on newborns only when it is known that the mother has been exposed to certain infectious agents or if the newborn exhibits symptoms consistent with an infectious disorder.
- Tests for Inherited (Genetic) Disorders: Genetic testing is most often done on newborns who are at increased risk because of family history or ethnic background. The testing is for the specific gene(s) associated with a disorder that occurs in the family or with high frequency in members of the specific ethnic group.
In addition to the lab tests, a number of other evaluations are typically done to insure the health of newborns. The article, Baby’s First Checkup on the March of Dimes web site discusses some of the procedures that may be included in the first exam of your newborn.
You can also find out more about preventive medicine and the steps you can take to keep you and your family healthy by reading the companion article Staying Healthy in an Era of Patient Responsibility.
General Sources
S1
National Newborn Screening & Genetics Resource Center. National newborn screening status report. Updated 17 Oct 2007. Available on the internet at http://genes-r-us.uthscsa.edu/nbsdisorders.htm. Accessed 26 November 2007.
S2
March of Dimes. Newborn screening tests by U.S. states, 2007 (data from NNSGRC as of 1 Jun 2007). PDF available for download at http://www.marchofdimes.com. Accessed 26 Nov 2007.
S3
March of Dimes. Newborn screening: overview. Available on the internet through http://www.marchofdimes.com. Accessed 26 Nov 2007.
S4
March of Dimes. Newborn screening tests. Available on the internet through http://www.marchofdimes.com. Accessed 26 Nov 2007.
