Chorionic villus sampling (CVS) is a prenatal test that involves taking a sample of some of the placental tissue. This tissue contains the same genetic material as the fetus and can be tested for chromosomal abnormalities and some other genetic problems. Testing is available for other genetic defects and disorders depending on the family history and other factors. In comparison to amniocentesis, another type of prenatal invasive test, CVS does not provide information on neural tube defects such as spina bifida. For this reason, women who undergo CVS will also need a follow-up blood test between 16 to 18 weeks of their pregnancy, to screen for neural tube defects.
Chorionic villus sampling may be offered to women who are at increased risk for chromosomal abnormalities or have a family history of a genetic defect that is testable from the placental tissue. CVS is usually performed between the 10th and 12th weeks of pregnancy. Although exact methods can vary, the procedure involves inserting a small tube called a catheter through a woman's vagina and into her cervix and usually follows this process:
Some women may not be candidates for CVS or may not obtain results that are 100 percent accurate, and may, therefore, require a follow-up amniocentesis. If women are experiencing an active vaginal infection such as herpes or gonorrhea, which will prohibit the procedure. Other times, the physician obtains a sample that does not have enough tissue to grow in the laboratory, and results are incomplete or inconclusive.
Results are usually available in about 10 days to two weeks, depending on the laboratory.
The risks of CVS include:
The benefits of CVS include:
Be sure to discuss the risks and benefits of CVS more specifically with your physician.
Christopher Cunniff, MD
Chief, Division of Medical Genetics
Birth Defect Syndromes, Disorders of Sexual Development, Muscular Dystrophy, Fetal Alcohol Syndrome, Autism Spectrum Disorders, Intellectual Disability
Jennifer Bassetti, MD Clinical Genetics, Genetic Testing, Chromosomal Disorders, Dysmorphology, Congenital Anomalies, Autism Spectrum Disorders. Developmental Delay, Intellectual Disability
Lilian L. Cohen, MD Genetic Testing, Genetic Counseling, Birth Defects, Heart Defects, Developmental Disorders, Growth Disorders, Failure to Thrive, Twin Pregnancy
Division of Medical Genetics
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