Prenatal Screening

by Georgina Cornwall, PhD

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    Stepping back a little bit, some of the techniques that you may be involved in as a doctor before referring to a genetic counselor are prenatal screening diagnosis techniques. Again, most of these are not actually genetic tests. They’re tests that might come before we would refer for any particular genetic testing. Prenatal screening is non-invasive and used to identify the need for perhaps more invasive prenatal diagnosis techniques. But I have to say there are some new technologies even so on the forefront that really open our eyes to perhaps not even having to use some of the more invasive techniques. In the battery of things that we can do in prenatal screening, we can simply take blood measurements of analytes, so proteins and hormones and things that we might find in the maternal serum. Probably, you’re already familiar with alpha-fetoprotein. MS-alpha-fetoprotein is alpha-fetoprotein from the maternal serum. We can measure this as you see in this figure. Take a moment to think what that figure is showing you. You can see the X axis is saying what the maternal serum for alpha-fetoprotein levels are and also the proportion of individuals that are unaffected. On the very left side, you have Down syndrome or on the right side, fetuses that have spina bifida. You can see that measuring maternal serum levels of alpha-fetoprotein, if an individual fetus is showing or maternal serum is showing high levels of alpha-fetoprotein, it could indicate spina bifida or low levels could indicate Down syndrome. Now, these are not exclusive tests. As you see, there’s quite an overlap between the unaffected individuals and Down syndrome individuals. We need to use additional tests like ultrasound screening in order to verify that maybe there’s a neural tube defect in the event that we see high levels...

    About the Lecture

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

    Author of lecture Prenatal Screening

     Georgina Cornwall, PhD

    Georgina Cornwall, PhD

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