In 2006, long-awaited national guidelines on newborn screening were announced by the American College of Medical Genetics. The 29 recommended tests help identify potentially treatable
congenital disorders within days of birth. Life-threatening health problems, mental retardation, and serious lifelong disabilities can be avoided or minimized if a problem is quickly identified and treated.
The 29 disorders for which routine testing has been recommended are listed in the table and are organized by broad categories, such as metabolic disorders subdivided by what kind of substance is affected (an amino acid, a sugar molecule, or a hormone), hemoglobin disorders (called hemoglobinopathies), and other disorders. More information on these disorders can be found on the March of Dimes web site.
All states require three of these tests: Phenylketonuria (PKU), Congenital hypothyroidism (CH) and Galactosemia (GAL) and at least 33 states require Cystic Fibrosis (CF) tests. Many states require all 29.
What to ask
Ask your health care provider (obstetrician, midwife, pediatrician) which tests will be routinely done and which supplemental tests may be appropriate for your newborn. The instructor of your childbirth education classes, a nurse at the hospital or birthing center, or your state health department can also give you more information.
Physicians and parents may request a “supplemental newborn screening” panel in addition to the state-required tests. At some hospitals, you can indicate your preference for this more extensive testing when you check in for the birth. Supplemental newborn screening tests can also be arranged, in advance of the birth, through one of several private laboratories offering this service.
Parents should also be aware that special collection techniques are used with newborns to minimize discomfort during specimen collection. In most cases, all the tests can be done using just a few drops of blood obtained from a pricked heel. Ordering the supplemental tests will not require extra sticks or blood from your newborn.
As more screening tests for newborns are implemented by states, more test results will necessitate follow-up. The significance of these tests usually requires that each positive result be confirmed by another test. If the results of a screening test are abnormal, ask your health care provider to tell you about the test’s reliability and limitations and what should be done to verify the finding. For more information on the reliability of lab tests, read the article How Reliable is Laboratory Testing?
Links
National Newborn Screening & Genetics Resource Center: National Newborn Screening Status Report (Contains a table with each state’s current requirements)
National Newborn Screening & Genetics Resource Center: Commercial and Non-profit Organizations offering Expanded Newborn Screening Tests
Sources
S1
March of Dimes. Recommended Newborn Screening Tests: 29 Disorders. Available on the internet through http://www.marchofdimes.com. Accessed 15 January 2008.
S2
National Newborn Screening & Genetics Resource Center. National newborn screening status report. Updated 17 Oct 2007. PDF available for download at http://genes-r-us.uthscsa.edu. Accessed 26 Nov 2007.
S3
Cystic Fibrosis Foundation. Newborn screening: overview. Updated 9 Jul 2007. Available on the internet through http://www.cff.org. Accessed 29 Nov 2007.
S4
Hiraki S et al. 2006. Attitudes of genetic counselors towards expanding newborn screening and offering predictive genetic testing to children. American Journal of Medical Genetics Part A 140A:2312–2319.
S5
Newborn screening: toward a uniform screening panel and system. May 2006. Genetics in Medicine. 8;5 (suppl 1):1S-252S.
S6
Expanded newborn screening using tandem mass spectrometry—financial, ethical, legal and social issues: parents—general information. Last updated 28 Jul 2005. Screening, Technology and Research in Genetics Project. Available on the internet through http://www.newbornscreening.info. Accessed 26 Nov 2007.
S7
Grosse SD et al. Newborn screening for cystic fibrosis: evaluation of benefits and risks and recommendations for state newborn screening programs. 15 Oct 2004. MMWR: Recommendations and Reports RR13. Available on the internet through http://www.cdc.gov/mmwr/. Accessed 30 November 2007.
S8
Children’s Hospital of Orange County. CHOC specialist recommends supplemental newborn screening. Kids Health Online: Fall 2003. Available on the internet through http://www.choc.com. Accessed 26 Nov 2007.
S9
March of Dimes. Newborn screening tests. Available on the internet through http://www.marchofdimes.com. Accessed 26 Nov 2007.
