Understanding Your Genetic Testing Options: Diagnostics

Chorionic Villus Sampling (CVS)

What It Is: Another way of obtaining fetal tissue is to take a small amount of the placental tissue from within the uterus, which has the same genetic composition as the fetus. To perform a CVS test, a needle is inserted into the placental attachment to the uterus and a small amount of tissue is removed and sent for analysis. The placenta can be approached either through the cervix or through the mother's abdominal wall.

When It Is Performed: This procedure can be done at 10 to 12 weeks, which is much earlier than routine amniocentesis. The results are available in about five to 10 days, also much quicker than with routine amniocentesis. The specimens obtained from this procedure can be contaminated with maternal tissue about one percent of the time (compared to about 0.2 percent in amniocentesis); this can confuse interpretation of the genetic tests. There are also rare circumstances when the abnormalities seen in the placenta may not be present in the fetus. Not only do you need an experienced professional performing the test, you also need one who can accurately interpret the test results.

The Risks: Having CVS increases the risk of fetal loss by about 1.2 percent over your risk without the procedure. Your actual risk is dependent on the skill of the person doing the procedure and your specific condition (again, look for a physician who performs more than 50 of these tests annually).

Percutaneous Umbilical Cord Blood Sampling (PUBS)

What It Is: The PUBS or cordocentesis procedure takes fetal blood directly from the umbilical cord to obtain the fetal cells or plasma needed for DNA, chromosomal, or biochemical testing. This test is used only in certain circumstances and is usually only when amniocentesis or chorionic villus sampling would not be adequate. It provides the most accurate information and the most rapid results.

During PUBS, a needle is inserted through the pregnant woman's abdominal wall, into the amniotic cavity, and into the fetal umbilical cord. Test results are usually ready much faster than with amniocentesis, often within 48 to 72 hours.

When It Is Performed: PUBS can be done after week 17 of pregnancy.

Technology is now available to identify many genetic disorders in your fetus before delivery. Most of these tests examine only for a single disorder or group of disorders; your doctor must know which disorder he or she suspects to obtain the appropriate test.

The most important consideration is how the information will be used. For some couples, genetic testing helps your doctor manage your pregnancy and delivery. It may also decrease your anxiety.

You should know why your doctor recommends the testing and how it may influence your pregnancy, delivery, and newborn baby. Genetic counseling is available to help you in this process.