Chorionic villus sampling

Chorionic villus sampling

Fig.3.19.

Definition

Chorionic villus sampling (CVS), also known as chorionic villus biopsy, is a prenatal test that can detect genetic and chromosomal abnormalities of a fetus.

(Fig 3.19.)
Chorionic villus sampling is performed on pregnant women who are at risk for carrying a fetus with a genetic or chromosomal defect. This procedure can be performed through the vagina and the cervix (transcervically) or through the abdomen (transabdominally). In the transcervical procedure, as depicted above, the physician uses ultrasound to help guide a catheter through the cervix into the uterus. By applying suction from the syringe attached to the other end of the catheter, a small sample of the chorionic villi is obtained.



Purpose

Chorionic villus sampling is performed on pregnant womenwho are at risk for carrying a fetus with a genetic or chromosomal defect. Although it carries a slightly higher risk, CVS may be used in place of amniocentesis for women who have one or more of the following risk factors:

  • women age 35 and older. The chance of having a child with Down syndrome increases with maternal age. For instance, the chance of having a baby with Down syndrome is one in 378 for a 35-year-old woman and increases to one in 30 for a 45-year-old woman.
  • a history of miscarriages or children born with birth defects.
  • a family history of genetic disease. Prenatal genetic testing is recommended if either the mother or father of the unborn baby has a family history of genetic disease or is known to be a carrier of a genetic disease.

Analysis of the cells from the chorionic villus enables the detection of over 200 diseases and disorders such as Down syndrome, Tay-Sachs disease, and cystic fibrosis. Gross rearrangements of the chromosomes and chromosome additions or losses are detected.



Description

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 that surrounds the developing fetus. Chorionic villi aremicroscopic, 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 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 cervixmay 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 that 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.

Benefits

Chorionic villi sampling allows parents of fetuses found to have a genetic defect to determine at an early stage whether to continue or terminate the pregnancy. Should the decision be made to continue the pregnancy, parents will have time to prepare, both physically and psychologically, for parenting a child with disabilities related to a genetic defect.

Precautions

Chorionic villus sampling is not recommended for women who have vaginal bleeding or spotting during the pregnancy. It is not typically recommended for women who have Rh sensitization from a previous pregnancy.

Preparation

Prior to the chorionic villus sampling procedure the woman needs to drink fluids and refrain from urinating to ensure her bladder is full. These preparations create a better ultrasound picture.

Aftercare

It is generally recommended that women undergoing chorionic villus sampling have someone drive them home and have no plans for the rest of the day. Women with Rh negative blood must receive a Rho (D) immune globulin injection following the procedure. Women should call their doctor if they experience excessive bleeding, vaginal discharge, fever, or abdominal pain after the procedure.

Risks

Of women who undergo transcervical chorionic villus sampling, one third experience minimal vaginal spotting and 7-10% experience vaginal bleeding. One out of five women experience cramping following the procedure. Two to three women out of 100 (or 2-3%) will miscarry following chorionic villus sampling. The risk of infection is very low. Rupture of the amniotic membranes is a rare complication. Women with Rh negative blood may be at an increased risk for developing Rh incompatibility following chorionic villus sampling.

There have been reports of limb defects in babies following chorionic villus sampling. However, in 1996 the World Health Organization reported that the incidence of babies born with limb defects from 138,966 women who had undergone chorionic villus sampling was the same as for women who had not. Therefore, this study found no connection between chorionic villus sampling and limb defects.