Continuing the Visit and a Critical Question Copy
Video Transcript
Dr. Young
He also has very low muscle tone and that is part of the problem he is having with nursing.
(Hands the baby back to mother) These are all characteristics of children with Down syndrome. Down syndrome is the most common genetic condition; it simply means that the person has an extra chromosome. Instead of the 46 chromosomes that each of us have, a child with Down syndrome has 47.
Dr. Young
Some babies with Down syndrome have serious heart disease and digestive problems, but Craig does not seem to have problems in these areas. This is a good sign for him. He appears very healthy and is in no immediate danger. Of course, we need to do the test to be sure he has Down syndrome.
Mrs. Brown
What tests do you have to do? How long will these take? Are you absolutely sure of this?
Dr. Young
First we draw a little blood, then we look at the cells and count the chromosomes. This takes about a week. I know this seems like a long time to wait. And I am not absolutely sure at this point that he has Down syndrome, but strongly suspect it because of the physical characteristics we have looked at. I will share the results of the test with you when I get them, and if necessary, I can also refer you a geneticist for further information.
Mrs. Brown
(with anger in her voice): Why wasn’t this found before? We had the screening test and an ultrasound – no one said anything to us. How could you miss something like this?
?Decision Point: What would you say next?
Reflect for a minute on what you would say next, then check your answer against the suggestion below.
Suggested Response
Doctor: I can understand why you are upset. Unfortunately, even under the best of timing and circumstances, in less than half of all cases can we detect Down syndrome with an ultrasound. And with the screening test you had during your pregnancy, it cannot tell us for sure if a child does or does not have Down syndrome.