Concerns About Pregnancy and Genetic Testing

2. Scenario One of the geneticists from the center bumps into Deborah at the pregnancy clinic. Deborah is somewhat agitated and obviously wants to talk. They walk together towards the parking lot and there Deborah confides to the genetic counselor that she just learned that she is about six weeks pregnant. “Everything will be OK, won’t it?” she inquires.

3. Scenario “Well, you have to remember to give your baby the best growing environment you can. What goes into your body may get into the baby’s, too,” cautions the counselor. “I guess that means I have to give up these,” making her point by crushing out the cigarette that she had just lit. The geneticist reviews what is known about the association between smoking and fetal growth.”

4. Fetal effects of smoking • ~25% pregnant woman smoke • Blood vessels constricted • Reduced blood flow • Low birth weight • 30% higher death rates • More prone to infections

5. Scenario When the geneticist finishes, she wonders whether or not Deborah will stop smoking for the rest of her pregnancy. “I’ve stopped smoking pot, and I haven’t used cocaine for weeks. Do you think that maybe I’ve hurt my baby with these drugs?” The geneticist told Deborah that she’d check with specialists about the drug use and urged her to continue abstaining from these drugs during her pregnancy. “And by the way, now that you’re going to be a mother, won’t you reconsider having your lipids tested? After all, you wouldn’t want to be raising a child and worrying about your having heart disease. If you don’t have the gene for heart disease (FH) that your brother has, it would be one less thing to worry about. If you are carrying the gene, wouldn’t you want your child to be tested too? And Deborah, have you been tested for AIDS? You know that the virus AIDS can be passed on to your baby too.”

6. Scenario “If you don’t want to think of yourself, at least think of your child.” Deborah brushes away a tear. “Children. My Children. I’ve been pregnancy before. Somewhere out there I’ve got two kids. Girls.” She leveled her gaze at the geneticist. “Twins. Identical twins”. She explains that when she was 15 she ran away from home after she found out that she was pregnant. She delivered twin girls. There had been one placenta, and she recalls the doctors being positively sure that there was only one chorion. “They told me that the girls came from one egg.”

9. Scenario Deborah said that she voluntarily put the infants up for adoption, and that she thought that they were placed in two separate adoptive homes. Deborah continues to decline lipid testing for FH, but suggests that the geneticist call the adoptive parents and invite them to have the girls tested later. She gives the geneticist as much information as she can about the adoption. Later, with Deborah’s permission, the geneticist stops by the pregnancy clinic to review Deborah’s record and is pleased that she has informed the clinic about her previous pregnancy. She is surprised that Deborah has also agreed to have a multiple marker prenatal screening test done at six weeks.

12. Scenario The record indicated that a genetic counselor had spoken with Deborah about AFP screening. Deborah had several questions about screening, the note indicated, and the counselor was careful to explain that while Deborah was not at increased risk, the multiple marker test was offered to all pregnant women. The counselor was convinced that Deborah understood about screening, and made the arrangements for her testing.

13. Scenario To find the latest information about the effects of marijuana and cocaine on pregnancy, the geneticist calls a regional resource. Sometimes referred to as a “teratogen hot line”, it connects him with a specialist who has access to a database containing information on the results of every important study ever published on the effects of drugs or medications on pregnancy. “Her early marijuana use shouldn’t be a problem, as long as she’s stopped,” said the specialist on the line. “I’ll fax you a summary of the latest findings. Hold on while I check on cocaine.” The geneticist waited patiently, and after a few clicks of the specialist’s keyboard she heard, “Cocaine use is a different story. It’s associated with a variety of pregnancy complications and neonatal problems.” The two discuss further details, and the geneticist asks for and is promised a written report. She then calls Deborah and discusses this information.

14. Fetal effects of cocaine • ~2-8% pregnant mothers • Constricts blood flow • Premature birth • Small head • Brain hemorrhage • Seizures

15. Scenario The geneticist informs the clinic obstetrician that she plans to try and contact the twins’ parents about their risk of early heart disease, reasoning that preventative measures could be taken if the tests were positive. The geneticist contacts the social worker involved with the adoptions and explains the situation. The geneticist makes arrangements for the social worker to be fully briefed on the importance of testing for FH. The geneticist is told that the social worker will relay this information to the adoptive parents, whose identities will not be revealed to the genetic center. The hope is that testing will be done and treatment started, if needed.