What happens if the diagnostic tests are positive?
The results of the tests will be discussed with you by your physician. Information will be provided about the type of defect that has been found and how it may affect the infant. Options for further management of your pregnancy will be discussed. Usually an ultrasound will be requested to exclude twins or to more carefully estimate how far along your pregnancy is. A second blood sample may then be requested. If the second blood test is abnormal then an amniocentesis and more sophisticated ultrasound may be suggested. If you are one of these relatively few women, more extensive counseling will be provided by a genetic counselor. The diagnosis of neural tube defects usually requires a combination of AFP testing, ultrasound and amniocentesis. Amniocentesis is required to diagnose Down Syndrome. What is amniocentesis? Amniocentesis is a medical procedure that removes a small amount of fluid from the amniotic sac (bag of water) through a very fine needle inserted through the mother’s abdome