Newborn Screening For Genetic Disorders

When you held your newborn baby for the first time, you probably spent quite a bit of time looking over every inch of their tiny body, cherishing each tiny finger and toe. Some time within the next day or so, someone at the hospital hopefully came in to visit you and your new little one to let you know that it was time to do your baby’s newborn screening. With so many things that usually happen at the hospital following the birth of a baby, most of which parents can choose to accept or decline, it can be hard to remember which test or procedure is which. It is very important to remember that the newborn screening, or heel-stick blood test, could save your baby’s life.

The newborn screening is a blood test that checks for multiple genetic disorders at one time. The exact list of disorders varies from state to state, but most states screen for thirty or more conditions. The test itself is a fairly simple procedure; a nurse draws a few tubes of blood from the baby’s heel and sends it to a laboratory for testing. It is good to know in advance that there will be multiple tubes of blood drawn – I did not know that before my son’s newborn screen and I was a little shocked when I saw the nurse draw four tubes of blood from his heel. He was not very pleased with the experience and screamed loudly, but I am very glad that we had the test done nonetheless.

When a baby tests positive for one of the genetic disorders in the newborn screening, the next step is usually further testing to confirm or negate the presence of that disorder. If further testing reveals that the baby does indeed have a genetic disorder, their parents can immediately begin working with doctors on a plan for treatment. This type of early intervention and treatment can greatly improve the quality of life for the child with a genetic disorder, greatly reducing the likelihood of death, mental retardation, and physical disabilities. It is also important to remember that unlike dad’s nose, mom’s lips, or any of the other features that you think you can see in your newborn, some of the genetic disorders that newborn screening can detect are things that you cannot see by looking at your baby. It only takes a few minutes, and even the loudest screams will subside quickly once baby is back in mom or dad’s arms.

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