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Antenatal Care: Screening for Down Syndrome (Aneuploidy)

by Veronica Gillispie, MD, FACOG
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    Hi, now we're going to discuss screening for Down syndrome. So it's three ways that we screen for Down syndrome in pregnancy. We're going to discuss those methods and talk about why we would choose one over the other. So the first is the free fetal DNA test. Basically, we have found that there is free fetal DNA circulating in mom's blood. So mom's blood is drawn, usually after 10 weeks of gestation and you're able to see the actual carrier type of the fetus. So you know with a 99% accuracy, if the fetus has Down syndrome. You're also able to find out the sex of the baby at that time. So the next option for screening is integrated, sequential, or contingency screening. These are all grouped the same way. But they are performed just a little bit differently. And it can be confusing. So let's go over that. So this test is performed between 11 weeks and 13 weeks and 6 days. Has a detection rate of 96%. Now the test involves performing a test called the Nuchal Translucency. That's an ultrasound that measures the skin fall behind the baby's neck. That is done along with blood work, PAPPA and beta-hcg. Now the difference in the test. So the integrated screening takes the result of that 1st trimester test. Again the nuchal translucency and those two hormones PAPPA and beta-hcg. And looks at the blood work at the 2nd trimester which is essentially the quad screen, integrates them together, to give a patient's risk of having a fetus with Down syndrome. Now this is done as probability so there is no value that's high or low, correct or incorrect. Because this is done as probability. Sequential screening means that you take the results of the 1st trimester, you...

    About the Lecture

    The lecture Antenatal Care: Screening for Down Syndrome (Aneuploidy) by Veronica Gillispie, MD, FACOG is from the course Antenatal Care. It contains the following chapters:

    • Screening for Down’s Syndrome
    • Diagnosis of Down’s Syndrome

    Included Quiz Questions

    1. Free fetal DNA test
    2. Amniocentesis
    3. Integrated screening
    4. Quad screening
    5. Contingency screening
    1. Nuchal translucency evaluation by ultrasound
    2. Testing of amniotic fluid
    3. Measure of maternal alpha-fetoprotein level
    4. Measure of maternal inhibin A level
    5. Measure of maternal estriol level
    1. Amniocentesis
    2. Chorionic villi sampling
    3. Free fetal DNA testing
    4. Maternal PAPPA levels
    5. Fetal alpha fetoprotein levels
    1. Quad Screening
    2. Nuchal translucency by ultrasound
    3. Integrated screening
    4. Contingency screening
    5. Chorionic villi karyotyping
    1. ...maternal PAPPA level.
    2. ...maternal HCG level.
    3. ... maternal inhibin A level.
    4. ... maternal alpha-fetoprotein level.
    5. ... maternal estriol level.
    1. Free Fetal DNA test
    2. Integrated screen
    3. Quad screen
    4. She is at high risk given her age over 35, so chorionic villi or amniocentesis karotyping is recommended
    5. Sequential screen

    Author of lecture Antenatal Care: Screening for Down Syndrome (Aneuploidy)

     Veronica Gillispie, MD, FACOG

    Veronica Gillispie, MD, FACOG


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