- You are over 35 years of age—women over 35 are at higher risk of having children with chromosomal abnormalities.
- You or your partner has a genetic disorder.
- You or your partner has a family history of a genetic disorder.
- You have had other children with genetic or biochemical disorders.
- You have had spontaneous abortions.
- You have had prenatal screening tests with abnormal results.
Chorionic villus sampling (CVS), also known as chorionic villus biopsy, is a type of test performed during pregnancy to determine if an unborn child is at risk for congenital defects. During the procedure, the physician takes a sample of the chorionic villi, a tissue in the placenta that contains information about the baby’s genes. The genetic information in the tissue is then analyzed and used to find out if an abnormal genetic or biochemical condition is present, such as Down syndrome, cystic fibrosis, or Tay-Sachs disease. The test is performed fairly early in pregnancy. Some sources indicate CVS can be performed as early as eight weeks and as late as 13 weeks and six days, but between 10 and 12 weeks is the most common (Pagana & Pagana, 2011). Talk to your doctor about when the time is right for you.
Not everyone who is pregnant will need to have chorionic villus sampling. It is usually performed when there is a possibility that the baby may have an abnormal condition. Your doctor may consider chorionic villus sampling if:
The test can detect more than 200 different types of genetic and biochemical conditions (NIH, 2010). By performing the test early on during the pregnancy, it gives parents the information they need to cope with some of the complications of the pregnancy or the possibility of terminating the pregnancy.
There are some risks involved with the procedure, including (Mayo Clinic; Pagana & Pagana, 2011):
Bleeding and Cramping
You may experience cramping or bleeding, especially if the procedure was performed through the cervix instead of the abdomen.
As with any invasive procedure, there is a risk of getting a uterine infection. This is rare, though.
During the procedure, there is a chance that the baby’s blood may be mixed with the mother’s blood. If you have Rh-negative blood and your baby is Rh-positive, you may become sensitized, which will cause your body to produce antibodies that attack your baby’s blood cells. Fortunately, your doctor can give you a medication called Rh immunoglobulin to stop you from becoming sensitized. If you are Rh-negative, make sure your doctor knows. If you are not sure, ask your doctor.
Accidental Abortion or Miscarriage
The risk of miscarriage due to a CSV is small: according to the Mayo Clinic, it is only one in 100 (Mayo Clinic, 2010). The risk for miscarriage is increased if the procedure is performed through the cervix instead of the abdomen, and if the fetus is small for gestational age (Mayo Clinic, 2010).
Fetal Limb Deformities
In some cases, chorionic villus sampling has caused deformities to the baby’s limbs, most notably the fingers and toes. However, this risk is low when the procedure is performed after nine weeks.
Discuss the risks and benefits with your doctor. Even though the test may be recommended, the ultimate decision on whether to undergo this procedure is for you and your partner to decide.
There are no food or fluid restrictions for this test. You may be told to drink one to two glasses of water or other fluids before the test begins. You will probably be asked to come with a full bladder because this will help with the ultrasound (Pagana & Pagana, 2011).
The test is usually performed by an obstetrician in the office. It usually takes about 30 minutes, and women report that it feels much like a Pap examination (Pagana & Pagana, 2011). Before the procedure, you will sign a consent form and have your and your baby’s vital signs taken.
The procedure can be performed through the cervix or through the abdomen. You will be asked to lie on your back. Your physician will insert an endoscope with a syringe into you uterus. Using an ultrasound as a guide, the physician will locate the placenta and then use the syringe to take small samples of the villi. Your physician may take two or three samples. When the procedure is complete, your healthcare provider will take your vital signs again and check for any signs of bleeding.
You may have another ultrasound scheduled within two to four weeks to make sure your baby is doing well. (Pagana & Pagana, 2011; NIM).
The results may not be available for several weeks. If your test is normal, that means there are no signs of a genetic defect. However, be aware that chorionic villus sampling does not test for every abnormal condition. In addition, some genetic abnormalities can be very difficult to identify and may not show up clearly during chromosome studies. If the test results are abnormal, your obstetrician will discuss the specifics with you. You may be referred to someone who specializes in genetic counseling.