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Newborn Screening: A few drops of blood can save a baby’s life

MADISON — Welcoming a new baby to your family can be one of the most exciting and information-overloaded times in your life. But there is one piece of information you need to be sure to ask your baby’s health care provider about: What are my baby’s newborn screening results?  Newborn screening is a test performed on a few drops of blood from ababy’s heel.  Between 24 and 48 hours after a baby is born, hospital staff (or a midwife for home births) will prick the baby’s heel and a few drops of blood are put on a special newborn screening collection card. The card is sent via courier to the Wisconsin State Laboratory of Hygiene’s Newborn Screening Laboratory at the University of Wisconsin-Madison, where scientists tes tthe dried blood spots for 44 rare, serious disorders that, if not treated quickly, can lead to severe health problems and sometimes even death.  If a baby tests positive for one of the disorders, the state lab immediately contacts the baby’s doctor. More tests will be done to confirm the screening result.  Depending on the situation, the baby’s doctor may start treating the baby for the disorder while this additional testing is being performed.


Some of the disorders screened for include cystic fibrosis, phenylketonuria (PKU), hypothyroidism, sickle cell disease, severe combined immunodeficiency(SCID) and galactosemia.  Treatment of the disorders varies from special diets to medication to surgery.“We screen nearly 70,000 infants a year for these rare, serious disorders and about 125 to 130 will have one of the 44 disorders,” says Mei Baker, aUW-Madison pediatrics associate professor and co-director of Wisconsin’sNewborn Screening Laboratory. “For those babies, a few drops of blood from their heel saved their life and gave them a chance for normal growth and development. ”If a baby’s newborn screening results are normal – and that’s the case for 99.9 percent of babies – the test results will be sent to the baby’s health care provider within a week after testing is completed.  Even though the vast majority of babies have normal newborn screening results, it’s still important to screen all of them.  “Nearly all of the 44 disorders are unrecognizable at birth, at least by routine physical examination,” says Patrice Held, co-director of the Newborn Screening Laboratory. “We have an opportunity to identify and treat babies with these disorders before they develop serious health problems.  ”Another component of newborn screening in Wisconsin is hearing screening.  The baby’s hearing is tested at the hospital or by a midwife after a homebirth.  In Wisconsin, newborn screening testing is mandatory, but parents can opt out for religious reasons. The comprehensive program is administered by the Wisconsin Department of Health Services and the Wisconsin State Laboratory of Hygiene. The program also includes physician consultants, genetic counselors and nutrition professionals from around the state.  September is National Newborn Screening Awareness Month and 2013 is the 50th anniversary of newborn screening nationally. The first newborn screening test was for PKU. Wisconsin began testing for PKU in 1965.

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