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Chorionic Villus Sampling


Overview :

Chorionic villus sampling has been in use since the 1980s. This prenatal testing procedure involves taking a sample of the chorion frondosum—that part of the chorionic membrane containing the villi—for laboratory analysis. The chorionic membrane is the outer sac which surrounds the developing fetus. Chorionic villi are microscopic, finger-like projections that emerge from the chorionic membrane and eventually form the placenta. The cells that make up the chorionic villi are of fetal origin so laboratory analysis can identify any genetic, chromosomal, or biochemical diseases of the fetus.

Chorionic villus sampling is best performed between 10 and 12 weeks of pregnancy. The procedure is performed either through the vagina and the cervix (transcervically) or through the abdomen (transabdominally) depending upon the preferences of the patient or the doctor. In some cases, the location of the placenta dictates which method the doctor uses. Both methods are equally safe and effective. Following the preparation time, both procedures take only about five minutes. Women undergoing chorionic villus sampling may experience no pain at all or feel cramping or pinching. Occasionally, a second sampling procedure must be performed if insufficient villus material was obtained.

For the transcervical procedure, the woman lies on an examining table on her back with her feet in stirrups. The woman's vaginal area is thoroughly cleansed with an antiseptic, a sterile speculum is inserted into her vagina and opened, and the cervix is cleansed with an antiseptic. Using ultrasound (a device which uses sound waves to visualize internal organs) as a guide, the doctor inserts a thin, plastic tube called a catheter through the cervix and into the uterus. The passage of the catheter through the cervix may cause cramping. The doctor carefully watches the image produced by the ultrasound and advances the catheter to the chorionic villi. By applying suction from the syringe attached to the other end of the catheter, a small sample of the chorionic villi are obtained. A cramping or pinching feeling may be felt as the sample is being taken. The catheter is then easily withdrawn.

For the transabdominal method, the woman lies on her back on an examining table. Ultrasound enables the doctor to locate the placenta. The specific area on the woman's abdomen is cleansed thoroughly with an antiseptic and a local anesthetic may be injected to numb the area. With ultrasound guidance, a long needle is inserted through the woman's abdominal wall, through the uterine wall and to the chorionic villi. The sample is obtained by applying suction from the syringe.

The chorionic villus sample is immediately placed into nutrient medium and sent to the laboratory. At the laboratory, the sample is examined under the microscope and any contaminating cells or material is carefully removed. The villi can be analyzed immediately, or incubated for a day or more to allow for cell division. The cells are stopped in the midst of cell division and spread onto a microscope slide. Cells with clearly separated chromosomes are photographed so that the type and number of chromosomes can be analyzed. Chromosomes are strings of DNA which have been tightly compressed. Humans have 23 pairs of chromosomes including the sex chromosomes. Rearrangements of the chromosomes or the presence of additional or fewer chromosomes can be identified by examination of the photograph. Down syndrome, for instance, is caused by an extra copy of chromosome 21. In addition to the chromosomal analysis, specialized tests can be performed as needed to look for specific diseases such as Tay-Sachs disease. Depending upon which tests are performed, results may be available as early as two days or up to eight days after the procedure.

Chorionic villus sampling costs between $1,200 and $1,800. Insurance coverage for this test may vary.

Alternate procedures

There are alternate procedures for diagnosing genetic and chromosomal disorders of the fetus. Amniocentesis is commonly used and involves inserting a needle through the pregnant woman's abdomen to obtain a sample of amniotic fluid. Amniocentesis is usually performed in the second trimester at approximately 16 weeks gestation and the laboratory analysis may take two to three weeks. The two advantages of chorionic villus sampling are that it is performed during the first trimester and the results are available in about one week. However, as of 1997, amniocentesis is being performed in the first trimester, but this is still very rare. The risk of miscarriage after amniocentesis is 0.5-1% (one to two women out of 200) which is lower than that for chorionic villus sampling (1-3%).

A noninvasive alternative is the maternal blood test called triple marker screening or multiple marker screening. A sample of the pregnant woman's blood is analyzed for three different markers: alphafetoprotein (AFP), human chorionic gonadotropin, and unconjugated estriol. The levels of these three markers in the mother's blood can identify unborn babies who are at risk for certain genetic or chromosomal defects. This is a screening test which determines the chance that the fetus has the defect, but it can not diagnose defects. A negative test result does not necessarily mean the unborn baby does not have a birth defect. For instance, this screening test can only predict 60-70% of the fetuses with Down syndrome. Pregnant women who have a positive triple marker screen are encouraged to undergo a diagnostic test, such as amniocentesis (by the time an AFP is done, it is too late to perform a CVS).




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