Learning About Pompe
Diagnosing Pompe
Diseases Like Pompe
Prenatal ScreeeningWhat Types of Prenatal Screening Are Available?
Prenatal diagnosis for Pompe disease is available for families with an affected child who are pregnant with another child. In fact, Pompe disease was one of the first genetic disorders researchers tried to diagnose before birth using amniocentesis, beginning in the late 1960s. Amniocentesis is a procedure in which a needle is inserted into the mother's abdomen to withdraw fluid from the sac that encloses the fetus.
Today, prenatal diagnosis can be made by testing cells obtained by amniocentesis or, more commonly, the direct enzyme analysis of uncultured chorionic villi cells. Chorionic villi cells stick out from the fetus's outer membrane and combine with the tissue of the mother's uterus to form the placenta.
The chorionic villi examination has become the more preferable of the two tests as it allows for early diagnosis (as soon as the 12th week of pregnancy) and a generally quick turnaround for results. Further research is being done to explore other early testing methods, such as newborn screening.
