Scene IV: Martha shares a secret

1. Scene IV: Martha shares a secret • Objectives: After this lesson, the student will be able to: • 1) Identify the risks of offspring associated with maternal age; • 2) explain the clinical and chromosomal features of Down syndrome; • 3) describe multifactorial conditions using cleft lip and palate as an example; and • 4) describe how drugs or medications used during pregnancy may cause birth defects using fetal alcohol syndrome as an example.

2. Scene IV: Martha shares a secret Martha tells the genetic counselor that she has just learned that she is about 6 weeks pregnant. At 40, she is concerned about her age-related risks of having a baby with a problem. Her husband is 58. He had been requested to attend the counseling session but had “better things to do.” He instructed Martha not to divulge any information about his family history since he was moving up the executive ranks and was concerned that his firm might pass him up for a promotion if there was any suggestion of his being from “inferior stock.”

3. The genetics staff explains to Martha that at age 40, the risk of delivering a child with Down syndrome is about 1 in 110.

5. A further review of Martha’s family history indicates that the daughter who is not a hemophilia carrier had been born with a cleft lip and palate, which had been surgically repaired leaving no trace of the cleft.

7. A discussion about multifactorial disorders such as cleft lip and palate follows, and a recurrence risk of about 4% is estimated.

8. Martha’s drinking is discussed again in light of her pregnancy. Fetal alcohol syndrome is reviewed, and Martha is strongly advised to stop drinking for the duration of her pregnancy.

9. Martha is reminded that if she has a boy, there is a 50% chance that he will have hemophilia. “I don’t suppose that there’s any testing that can give me more information? By the way, you’d better not tell Stacy or David any of this, or I’ll sue you and this place…”