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Newborn screening for Cystic Fibrosis: a vital first test

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May was National Cystic Fibrosis Awareness Month, but it’s never a bad time to be mindful of the condition that affects approximately one in 2,500 to one in 3,500 Caucasian newborns. Cystic fibrosis causes thick, sticky mucus to build up and impact certain organs such as the lungs and pancreas. To facilitate early treatment and minimize symptoms, all infants in Wisconsin are tested for cystic fibrosis during their newborn screenings.

Newborn screening, a test that reaches each of the more than four million babies born in the United States every year, is coordinated on the state level by the public health department. It ensures that all babies are screened for certain serious conditions at birth, and it allows providers to immediately start treatment for babies who are identified with a condition. This testing is important because many babies born with one of the testable conditions may not initially look or act differently, so parents and providers may not otherwise know there is a reason to be concerned. The sooner a condition is caught, the more proactive providers can be with treatment.

Because newborn screening is managed at the state level, different states may test for different conditions. Infants born in Wisconsin are screened for a total of 45 conditions, including hearing loss. There is also a pilot program in progress to screen infants for critical congenital heart disease. Between 24 and 48 hours after birth, a few drops of blood are taken from a baby’s heel, applied to special paper and sent to the Wisconsin State Laboratory of Hygiene for testing. Your baby’s provider will share results of this blood test, hearing screen and congenital heart disease screening with you and answer any questions.

If your baby is identified as having one of the conditions included on the newborn screening, your baby’s provider will talk to you about the condition and the necessary treatment. Meeting with a genetics specialist, such as a geneticist or genetic counselor, may be helpful, too. Treatment for each condition is different, but it may include being on a special diet or taking a specific medication.

To learn more about any of the conditions included in newborn screening, visit Baby’s First Test (http://www.BabysFirstTest.org/), the online hub of the nation’s newborn screening information.

About Alyson Krokosky

Alyson Krokosky, MS, CGC, provides genetic counseling services to patients and their families in the areas of preconception, prenatal, pediatric, adult, cancer and cardiac genetics. Alyson has a special interest in helping patients and their families uncover their family history and understand health risks. She earned her bachelor’s degree in biology from Furman University in Greenville, S.C., and her master’s degree in human genetics from the University of Michigan. 

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