Michael Marcus, MD. Director Pediatric Allergy & Pulmonary - Maimonides Medical Center. Fellowship:Children’s Hospital of Philadelphia. Castle Connolly Top Doctor.
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Speaker: In New York, we actually check every baby for their gene, for Cystic Fibrosis. Is that correct? Speaker2: Every baby that's born, gets a blood sample for a variety of different newborn screening diseases, and Cystic Fibrosis is one of the disease is that we test for in New York, in that newborn screening panel. Speaker: They told that the gene could be there, it doesn't mean the kid has Cystic Fibrosis, but it now means, whether the testing has to be done to prove or not prove. Is that true? Speaker2: That is true. There are 3 stages in this process. The first stage is that, with that little blood spot that we take from a newborn baby, we look for an abnormal enzyme in the blood. If that abnormal enzyme is in the blood, then from that same sample they do genetic testing. If the genetics are positive in the blood, they then, have to go back to the baby and do a test, called the Sweat Test. The sweat test is the absolute definitive test to say whether this is Cystic Fibrosis or not. When they do this sweat test, they also repeat the genetic, test just to make sure that there wasn't a mistake made in the first sample.

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