Test Overview

Chorionic villus sampling (CVS) is a test that can find certain problems with your fetus. These include many diseases that run in families (genetic conditions) and chromosome problems. It is done during early pregnancy, most often between the 10th and 13th weeks.

Chorionic villi are tiny finger-shaped growths found in the placenta. The chorionic villus cells have the same genetic material as the baby's cells. During CVS, a sample of the chorionic villus cells is taken. The sample is collected by putting a thin tube (catheter) through the vagina or by putting a long, thin needle through the belly. Ultrasound is used to guide the catheter or needle to the right spot.

CVS can find many genetic conditions. It can also find chromosome problems, such as Down syndrome. CVS can't find neural tube defects.

CVS is done earlier in pregnancy than amniocentesis (usually done at 15 to 20 weeks). And the results of CVS are available sooner. This gives you more time to make decisions about your pregnancy or plan for the future.

Why It Is Done

CVS may be done during your first trimester of pregnancy to find certain genetic conditions.

You may choose to have this test because:

• Of your age. As you get older, you have a greater chance of having a baby with a genetic condition.
• You or the baby's father carries an abnormal gene that can cause an inherited disease, such as Tay-Sachs disease, sickle cell disease, or cystic fibrosis.
• You or the baby's father has a family history of a genetic condition.
• You have already had a child who has Down syndrome or another chromosome problem.
• Other tests suggest that your chance of having a baby with a genetic condition is higher than average.
• You want to know if your baby has a serious health problem. This may help you decide early if you want to continue the pregnancy and make plans to care for a sick child.

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How To Prepare

You may be asked to drink a glass of fluid about an hour before the test so that your bladder is full. A full bladder makes it easier to do the test.

You may want to talk to a genetic counselor before or after the test. This person is trained to give you detailed information about the test. The counselor can help you make decisions about testing. The counselor can also help you understand the results of the tests.

You will be asked to sign a consent form that says you understand the risks of the test and agree to have it done.

How It Is Done

CVS is usually done by a perinatologist. It may be done in the doctor's office or the hospital. An overnight stay in the hospital usually is not needed.

CVS may be done either through the belly (transabdominal) or through the cervix (transcervical). The choice may depend on the position of the fetus and the placenta.

Through the belly (transabdominal)

You will lie on your back on an exam table with your belly bare.

Ultrasound will be used to help your doctor guide the needle to the placenta. Gel will be rubbed on your belly. An ultrasound device (transducer) will be moved over your belly. It gives off and picks up sound waves. The sound waves are sent to a computer to make a picture of your uterus, your baby, and the placenta on a screen. The doctor can also use ultrasound to check your baby's heart rate.

Your skin where the needle will be put in is cleaned with an antiseptic and may be numbed with a medicine. Your doctor then puts a long, thin needle through your belly and uterus to the placenta. The needle is used to collect a sample of the chorionic villus cells.

After the sample is collected, the doctor may listen to your baby's heart and check your blood pressure, pulse, and breathing.

Through the cervix (transcervical)

You will take off your clothes below the waist. You will have a paper or cloth covering around your waist. You will lie on your back on an exam table with your knees bent and feet and legs supported by footrests.

Your doctor will put a special tool with curved sides (speculum) into your vagina. The speculum helps to open the vagina a little bit. This lets the doctor see the inside of the vagina and the cervix. The cervix will be cleaned with an antiseptic.

Your doctor will use ultrasound to guide a thin tube (catheter) through your cervix to the placenta. Gel will be rubbed on your belly. An ultrasound device (transducer) will be moved over your belly. It gives off and picks up sound waves. The sound waves are sent to a computer to make a picture of your uterus, your baby, and the placenta. The doctor can also use ultrasound to check your baby's heart rate.

When the catheter is in the right place, a sample of chorionic villus cells will be collected.

After the sample is collected, the doctor may listen to your baby's heart and check your blood pressure, pulse, and breathing.

How long the test takes

The test will take about 30 minutes. Getting the sample takes only a few minutes.

How It Feels

Through the belly (transabdominal)

You may feel a short, sharp sting from the needle used to give the numbing medicine. There is usually no pain when the collecting needle is put in the belly. You may have some cramping when the needle is in your uterus.

Through the cervix (transcervical)

Most women do not find this procedure painful. You may feel some pressure or mild discomfort when the speculum is placed in your vagina. You may have some cramping when the catheter is put through your cervix.

Risks

Some risks of CVS may include:

• Infection in your uterus.
• Vaginal bleeding.
• Leakage of amniotic fluid.
• Miscarriage. About 2 out of 1,000 women have a miscarriage after this test.
• A false-positive result. In rare cases, this can happen when the placenta cells have abnormal genetic material even though the baby's cells are normal. This is called confined placental mosaicism.

There is a very small chance that CVS could cause bleeding that could let your blood mix with your baby's blood. If you have Rh-negative blood, you will be given the Rh immunoglobulin shot (such as RhoGAM). This can prevent Rh sensitization, which could cause harm if your baby has Rh-positive blood.

Results

The genetic material (chromosomes) of the cell sample is looked at carefully. Normally there are 46 chromosomes in each cell, arranged in 23 pairs. The number, arrangement, and structure of the chromosomes in the sample can show if your baby has a genetic condition. Chromosomes also show the sex of your baby.

It may take 1 to 2 weeks to get CVS results.

Normal

• No abnormalities are found in the genetic material of the chorionic villus cells.

Abnormal

• Abnormalities are found in the genetic material of the chorionic villus cells.

CVS can find certain problems, but normal results don't guarantee that your baby will be healthy.

In rare cases, the chorionic villus cells may have abnormal genetic material even though the baby's cells are normal. This is called a false-positive result. An abnormal test result may need to be confirmed by amniocentesis.