Chapter 2: Student Activities | Course Companion for Children with Disabilities, Fifth Edition

2: Birth Defects, Prenatal Diagnosis, and Fetal Therapy

Student Activities

Interview a genetic counselor or medical geneticist. Ask him or her to take you through the steps of genetic risk assessment for various case histories, including exploring diagnostic alternatives and various reproductive options. Discuss nondirective counseling and professional sensitivity to the experience of families at risk for fetal abnormalities.
Choose a fetal abnormality (e.g., chromosomal defect, neural tube defect, congenital heart disease), and describe which couples would be most at risk; what prenatal screening and/or invasive diagnostic testing would indicate its presence; how this testing would be carried out; and what therapies would be available to correct it. Remember to indicate the limitations and risks of each technique for the mother and fetus.