ScenarioOne 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.

With all the problems in my family… everything will be ok, won’t it?

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

ScenarioThe geneticist reviews what is known about the association between smoking and fetal growth.”

I guess that means I have to give up these

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

I’ll have to check with specialists about the drug use and but I urge you to continue abstaining from these drugs.

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?

And now that you’re going to be a mother, won’t you reconsider having your lipids tested? 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.

Children. My Children. I’ve been pregnancy before. Somewhere out there I’ve got two kids. Girls.

If you don’t want to think of yourself, at least think of your child.

Twins. Identical twins. When I was 15 I ran away from home after I found out that I was pregnant. I delivered twin girls.

Fraternal (non-identical) Twins

Identical Twins

I will try my best to contact the girl’s families.

I put the infants up for adoption, and I think they were placed in two separate adoptive homes.

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.

I still don’t want to be tested for FH. But can you call the adoptive parents and have the girls tested later? I can give you some information about the adoption.

ScenarioThe 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.

ScenarioTo 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 her 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.

The two discuss further details, and the geneticist asks for and is promised a written report. She then calls Deborah and discusses this information.

Her early marijuana use shouldn’t be a problem, as long as she’s stopped. I’ll fax you a summary of the latest findings. Hold on while I check on cocaine.

Cocaine use is a different story. It’s associated with a variety of pregnancy complications and neonatal problems.

Fetal effects of cocaine

• ~2-8% pregnant mothers

• Constricts blood flow

• Premature birth

• Small head

• Brain hemorrhage

• Seizures

ScenarioThe 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 them 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.