Pompe disease

Treatment

Is there testing that can be done during pregnancy to diagnose Pompe disease?

If someone has a family member affected with Pompe disease, prenatal testing can be done to look for Pompe disease in a pregnancy. If the specific changes in the GAA gene are known in the family, two tests are available during pregnancy. The first is called chorionic villus sampling (CVS) which is usually done between 10 to 14 weeks of pregnancy. It involves inserting a needle through the mother's belly or cervix while an ultrasound is being done. The needle takes a little bit of the placenta, which is made from the same cells as the baby. The placental cells can be grown in a laboratory and tested to see if the placenta/baby has the two changes found in the family to cause Pompe disease. The second test is called amniocentesis (amnio) and is usually done between 15 and 20 weeks of pregnancy. With this test, a needle is inserted into the mother's belly while an ultrasound is being done and takes a little bit of the amniotic fluid from around the baby. There are cells in the fluid that have washed off the baby that can be grown in a laboratory. These cells are tested for the 2 GAA changes from the family. Both CVS and amnio are considered almost 100% accurate but carry a small risk of miscarriage between 1 in 200 to 1 in 500, or between 0.2% to 0.5%.

Lake BD, Young EP, Winchester BG. Prenatal diagnosis of lysosomal storage diseases. Brain Pathol 1998 8:133-49.

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