Prenatal Diagnosis for Pompe Disease

Prenatal Diagnosis for Pompe Disease
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If you are at risk of transmitting Pompe disease to your children, you may be thinking about your reproductive options and interested in prenatal diagnostic testing.

What is prenatal diagnosis?

Prenatal diagnosis involves performing a genetic test on your baby before birth. Getting genetic material from a fetus can be done in two ways: through amniocentesis or chorionic villus sampling (CVS).

You should talk to your doctor about the risks and potential benefits of prenatal diagnosis before undergoing either procedure.

Amniocentesis

Amniocentesis involves sampling the amniotic fluid (the fluid that surrounds the fetus in the uterus). The doctor inserts a needle into the abdomen of the mother and collects a small amount of amniotic fluid. This fluid contains cells from the fetus. Doctors can, therefore, use these cells to test for Pompe disease or other genetic conditions.

CVS

CVS involves taking a sample of the placenta (an organ attached to the lining of the womb during pregnancy). The placenta has small finger-like projections (the chorionic villus), which doctors can sample. They can collect this sample using a needle either through the abdomen (in a similar way to amniocentesis) or through the vagina.

CVS has some advantages over amniocentesis. For instance, doctors can perform CVS earlier in pregnancy when it is not yet safe to sample the amniotic fluid.

What are the risks of prenatal diagnostic testing?

Although rare, risks associated with amniocentesis and CVS include bleeding, infection, and damage to the placenta or fetus. This type of testing can also cause a miscarriage, which also happens very rarely.

What happens after amniocentesis or CVS?

After the doctor has collected genetic material from the fetus by either method, the sample is sent to a laboratory for genetic testing. This test can take a few days to a few weeks to complete. When the results become available, your doctor will meet with you to discuss options.

 

Last updated: June 23, 2020

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Pompe Disease News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.

Emily holds a Ph.D. in Biochemistry from the University of Iowa and is currently a postdoctoral scholar at the University of Wisconsin-Madison. She graduated with a Masters in Chemistry from the Georgia Institute of Technology and holds a Bachelors in Biology and Chemistry from the University of Central Arkansas. Emily is passionate about science communication, and, in her free time, writes and illustrates children’s stories.
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Özge has a MSc. in Molecular Genetics from the University of Leicester and a PhD in Developmental Biology from Queen Mary University of London. She worked as a Post-doctoral Research Associate at the University of Leicester for six years in the field of Behavioural Neurology before moving into science communication. She worked as the Research Communication Officer at a London based charity for almost two years.
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Emily holds a Ph.D. in Biochemistry from the University of Iowa and is currently a postdoctoral scholar at the University of Wisconsin-Madison. She graduated with a Masters in Chemistry from the Georgia Institute of Technology and holds a Bachelors in Biology and Chemistry from the University of Central Arkansas. Emily is passionate about science communication, and, in her free time, writes and illustrates children’s stories.
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