Genetic Testing and Pregnancy
What if the fetus tests positive for the disease?
Though extremely reliable, prenatal testing has its limitations. It will confirm the presence or absence of a disease but generally cannot predict the severity of diseases for which there is a range of severity (such as Gaucher Disease or Cystic Fibrosis). Disease inheritance is extremely complex, and a disorder may manifest in different ways depending on the nature of the mutation, where it occurs on the gene, and various other factors.
While genetic diseases cannot yet be cured, an increasing number of them can be managed with treatment, and improved therapies are being developed all the time. A genetic counselor can interpret your results, tell you about the current state of research on your specific condition, and help you with the options that are available.