2: Birth Defects, Prenatal Diagnosis, and Fetal Therapy
Study Questions
Explain and describe the role of a genetic counselor. What are some reasons that a couple would seek the help of such a counselor?
Describe the two primary prenatal screening evaluations and the possible birth defects that they can help identify.
List three or four common indications for invasive diagnostic testing. What possible birth defects can fetal cell testing diagnose?
Describe the fetal therapies that are available once a fetal abnormality has been identified.
Explain the differences between in vitro fertilization (IVF) techniques and preimplantation genetic diagnosis (PGD). In which cases would a couple opt for PGD?