Sunday, May 8, 2011

Early Diagnosis

My parents were not aware that they were carriers of Cystic Fibrosis. Scientists have now made it possible to know the chance of your children being diagnosed with Cystic Fibrosis. This early diagnosis is a genetic carrier testing. This is a blood test that can help detect carriers, who could pass this illness onto their children. Scientists have also made newborn screenings possible to find babies born with certain health conditions in order to begin treatment early and prevent lifelong problems. The first step of this screening is a blood test which is done a couple days after birth. If this screening for Cystic Fibrosis is positive, it means that high levels of immunoreactive trypsinogen [IRT, which is an enzyme created by the pancreas] were detected. Depending on what state you live in, depends the next step in this process. Most states do another blood test to find out if the baby has a mutation of the Cystic Fibrosis Transmembrane Conductance Regular [CFTR]. Once detecting a mutation, the third step is the sweat test. This test measures the amount of salt in a person’s sweat. Usually people with Cystic Fibrosis have a higher amount of salt than normal. If Sarah and Jerry end up having a baby I know that they will go through these procedures in order to start treating this illness as soon as possible to increase the years of the babies life. 

1 comment:

  1. Your descriptions and understanding of this disease is awesome!

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