Your Baby's First Genetic Test: Five Questions for Parents to Ask About Newborn Screening in Commemoration of National Newborn Screening Month from the American College of Medical Genetics (ACMG)

Thursday, September 4, 2008 General News
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BETHESDA, Md., Sept. 4 September is National NewbornScreening Awareness Month and the American College of Medical Genetics( strongly advocates universal newborn screening for 29 treatableconditions. In many of these diseases, serious complications such as death,disability or mental retardation are avoidable only through newborn screening,with appropriate follow-up and treatment.

"Newborn screening is a vital public health program. Through earlyscreening, diagnosis and treatment we can prevent the truly dire consequencesof a number of treatable conditions. With the current expansion of newbornscreening panels, it is estimated that about 10,000 of the 4.1 million babiesborn each year in the United States will be identified with one of theconditions for which treatment will have a significant impact on long-termoutcome," says Michael S. Watson, PhD, FACMG, executive director of the ACMG.

To help parents, ACMG has developed a brief list of questions thatexpectant and new parents may want to ask their healthcare provider aboutnewborn screening in their state.

1. What conditions and disorders are tested in the newborn screeningprogram in our state?

2. How and when is the test performed?

3. How and when will I get the test results of my baby's screening panel?

4. Does a negative result mean my child is not at risk for that condition?

5. If my baby has a positive screening result, what are the recommendednext steps?

If a healthcare provider and family decide to consult a geneticsspecialist, they can find a specially trained, board-certified geneticsprofessional such as a medical geneticist physician or genetic counselor onthe American College of Medical Genetics website at whichincludes a free online tool "Find a Geneticist."

"We need to make sure that every baby born in the United States has thebenefit of being tested for the expanded newborn screening panel," said R.Rodney Howell, MD, FACMG, President of the American College of MedicalGenetics Foundation.

As an additional resource for medical professionals, the ACMG hasdeveloped ACTion (ACT) sheets which describe the short term actions a healthprofessional should follow in communicating with a family and determining theappropriate steps in the follow-up of the infant that has screened positive.These are located at the ACMG homepage at under ACMG ACT Sheetsand Confirmatory Algorithms on the homepage.

ACMG also commends the 2008 signing of the Newborn Screening Saves LivesAct and applauds the work of the March of Dimes, Genetic Alliance, Hunter'sHope Foundation and Save Babies Through Screening Foundation and the manyother organizations who work tirelessly to save and improve the lives ofchildren through newborn screening.

About the American College of Medical Genetics

Founded in 1991, the American College of Medical Genetics ( the practice of medical genetics by providing education, resourcesand a voice for more than 1400 geneticists, genetic counselors and otherhealth care professionals committed to the practice of medical genetics.Genetics in Medicine, published monthly, is the official ACMG peer-reviewedjournal. ACMG's website ( offers a variety of resources includingPolicy Statements, Practice Guidelines, Educational Resources, and a MedicalGeneticist Locator. The educational and public health programs of the AmericanCollege of Medical Genetics are dependent upon charitable gifts fromcorporations, foundations, and individuals. The American College of MedicalGenetics Foundation is a 501 (3)(c) not-for-profit organization dedicated tofunding the College's diverse efforts.

SOURCE American College of Medical Genetics

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