Prenatal Diagnosis for Pompe Disease

Emily Malcolm, PhD avatar

by Emily Malcolm, PhD |

Share this article:

Share article via email
prenatal diagnosis

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 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 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


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.