Prenatal Diagnosis

by Georgina Cornwall, PhD

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    Then if we wanted to take it a stage further, perhaps there is some evidence that there might be something genetic going on. You don’t have the use of NIPS or non-invasive procedure, we can do prenatal diagnosis. There are two, I’m sure you’re very familiar with. So, I’m just going to touch on them briefly. Chorionic villus testing where we actually take a sample of the fetal component of the placenta in order to do any of the DNA testing, chromosome analysis, or actually these days, much, much deeper testing that’s available to us with genetic screens and such or we can do amniocentesis. It used to be thought that amniocentesis and chorionic villus testing were fairly invasive procedures. But of course, with the advents in technologies in medicine, they are relatively safe. Chorionic villus testing, a little less invasive because amniocentesis actually requires puncturing of the amniotic sac in order to take samples of the cells. Two techniques that are also available and perhaps you will be involved in any number of these techniques as a precursor to sending a patient or referring a patient to genetic counseling. Another thing that we should cover in the realm of prenatal diagnosis is preimplantation genetic diagnosis. This is something that would be, of course, available to your patients. It's becoming more and more frequent as a not just in vitro fertilization technique but as a technique for diagnosing any potential genetic anomaly. It’s a particular interest if you have patients that are interested in conceiving, yet, they know they have a certain risk of a genetic disorder, say Tay-Sachs disease. Then you would certainly want to have preimplantation genetic diagnosis in order to assure you did not have or your patient did not have an affected son or daughter. The...

    About the Lecture

    The lecture Prenatal Diagnosis by Georgina Cornwall, PhD is from the course Population Genetics.

    Author of lecture Prenatal Diagnosis

     Georgina Cornwall, PhD

    Georgina Cornwall, PhD

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