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Sandra Concialdi: What we are doing is we are taking the film of the baby's back of the neck between the skin and tissue and we're looking for potential space that there might be something going on genetically wrong.
Dr. Eugene Pergament: Chromosomally abnormal pregnancies are particularly down to have an excessive amount of fluid and we can quantify that, the more fluid, the higher the risk. We are also beginning to look at the presence or absence of nasal bone. Because almost 70% of cases have down syndrome, reportedly have no nasal bone at the point of the first trimester evaluation.
The advantage of an invasive procedure like amniocentesis is that it gives you a yes or a no. Today what we are saying to you, we are going to identify it as whether or not you're at increased risk. It's non-invasive. Does not put the pregnancy at risk and we have the highest possible detection unit available to you, but not a 100 percent.
Lucia Rice: We made the decision that we would try and doing everything possible to try and have a healthy baby and that's why we are here today for the screening.
Dr. Eugene Pergament: Most pregnancies at measure between one and two millimeters in the amount of fluid in the neck, have a good or normal outcome, and that's where is your measurement slot. We've demonstrated to you that you're not at increased risk of down syndrome. We try some new routine, actually some other chromosome abnormalities that we don't have good prediction but we detected them. Not at increased risk or any of these twelve cardiac defects and not an increase risk for any one of fifty plus birth defects.
Lucia Rice: Okay.
Dr. Eugene Pergament: The other aspect of any screening test is the false negative. The false negative means, we look again at group of women and we're saying to that group, your pregnancy looks perfectly fine to us. Nevertheless there maybe among those, some who have actually have affected pregnancies.
Lucia Rice: How often does that happen?
Dr. Eugene Pergament: Well, for down syndrome the particular screening test you're having today, will detect at least 90% and up to 98% of the cases of down syndrome.
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