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Concept
Chorionic villus sampling
Summary
Chorionic villus sampling (CVS), sometimes called "chorionic villous sampling" (as "villous" is the adjectival form of the word "villus"), is a form of prenatal diagnosis done to determine chromosomal or genetic disorders in the fetus. It entails sampling of the chorionic villus (placental tissue) and testing it for chromosomal abnormalities, usually with FISH or PCR. CVS usually takes place at 10–12 weeks' gestation, earlier than amniocentesis or percutaneous umbilical cord blood sampling. It is the preferred technique before 15 weeks.
CVS was performed for the first time in Milan by Italian biologist Giuseppe Simoni, scientific director of Biocell Center, in 1983.
Use as early as eight weeks in special circumstances has been described. It can be performed in a transcervical or transabdominal manner. Although this procedure is mostly associated with testing for Down syndrome, overall, CVS can detect more than 200 disorders.
Possible reasons for having a CVS can include:
Abnormal first trimester screen results
Increased nuchal translucency or other abnormal ultrasound findings
Family history of a chromosomal abnormality or other genetic disorder
Parents are known carriers for a genetic disorder
Advanced maternal age (maternal age above 35). AMA is associated with increase risk of Down's syndrome and at age 35, risk is 1:400. Screening tests are usually carried out first before deciding if CVS should be done.
The risk of miscarriage in CVS is estimated to be potentially as high as 1–2%. However some recent research has suggested that only a very small number of miscarriages that occur after CVS are a direct result of the procedure. Apart from a risk of miscarriage, there is a risk of infection and amniotic fluid leakage. The resulting amniotic fluid leak can develop into a condition known as oligohydramnios, which is low amniotic fluid level. If the resulting oligohydramnios is not treated and the amniotic fluid continues to leak it can result in the baby developing hypoplastic lungs (underdeveloped lungs).
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