Joan Atkin MD, Unjera Jackson MD, FACOG, Marty Moss-Coane
If you're pregnant, there's a chance that your doctor will suggest a procedure known as chorionic villus sampling to determine if your child has a genetic abnormality like Down's Syndrome. This can of course a very scary prospect for many reasons: What do you do if the test comes back positive? And what if the test endangers the pregnancy? Worrisome as the test may be, it's important make an informed decision about testing. Join our panel of experts for an in-depth look at CVS.
MARTY MOSS-COANE: Welcome to our webcast. I'm Marty Moss-Coane. The birth of a baby is one of the most exciting events in a couple's life. Early in the pregnancy, one of their first stops should be at the obstetrician's office, who can monitor the mother's and the baby's progress. In some cases, the doctor might suggest a procedure known as chorionic villus sampling, or CVS. This is a test to determine if the baby has some kind of genetic problem. This is, of course, a very scary thought to an expectant couple, but it need not be.
On our webcast, we will walk you through CVS, so that you are fully informed about what to expect when you visit your doctor. Let me introduce our guests. Dr. Unjera Jackson is a maternal/fetal medicine specialist and Director of Obstetrics at Morristown Memorial Hospital in Morristown, New Jersey. Dr. Jackson, nice to have you with us. Dr. Joan Atkin is a medical geneticist, and Director of Genetics at Atlantic Health System, also in New Jersey. Dr. Atkin, welcome to you as well.
Let me begin with three words that I'm sure are unfamiliar to our audience: chorionic villus sample. Dr. Atkin, what do those words mean?
JOAN ATKIN, MD: The chorionic villus is an area that will eventually become the placenta. Sampling of that means that you take a piece of that tissue so that you can analyze it in the laboratory for a variety of different purposes.
MARTY MOSS-COANE: I'm interested, Dr. Jackson, when you suggest that a couple might consider chorionic villus sampling? What are some of the indicators?
UNJERA JACKSON, MD: Some of the indicators for chorionic villus sampling would be advanced maternal age. That is, a woman who is going to be 35 or older at the time of a delivery. If there is a specific family history for which chorionic villus sampling could be used to make a diagnosis of some sort of inherited condition or problem. A child who has been previously affected in that particular family with a chromosomal abnormality. I think those are sort of the basic categories of women who would initially be referred, or who might consider chorionic villus sampling.
MARTY MOSS-COANE: Did you want to add to that at all, in terms of those that would be considered for this procedure?
JOAN ATKIN, MD: Basically we're talking about couples that are at increased risk for a chromosomal problem. Dr. Jackson mentioned advanced maternal age and a previous child with a chromosomal problem. Also, if one of the couple is known to have what we call a balance rearrangement in their chromosomes that puts them at increased risk. And then, a couple that's at increased risk to have a baby with some type of genetic disorder, which they may know about from having a previous child, or from a family history, or also from screening testing that we do on certain groups of people.
MARTY MOSS-COANE: When in the pregnancy, which trimester is CVS normally done? Dr. Jackson?
UNJERA JACKSON, MD: Chorionic villus sampling is normally done in the first trimester. The specific time is between 10 and 12 weeks. Actually, sampling chorionic villi is a procedure which also can be carried out later in pregnancy. But for the purposes of diagnosis, early in pregnancy, to obtain information that will be useful for the management of the pregnancy, the usual time is first trimester, between 12 and 10 weeks' gestation.
MARTY MOSS-COANE: I'm curious. When you suggest this procedure to your patients, what kind of questions do they have? What do they want to know?
UNJERA JACKSON, MD: Usually they want to know exactly what the procedure involves, and what are the risks of the procedure.