The Detection of Chromosomal Abnormalities in the Fetus
The test is typically performed during the first trimester of pregnancy, usually between weeks 10-12 of gestation.
The placenta connects the fetus to the mother and plays a crucial role in providing the fetus with energy and oxygen. The placenta is composed of chorionic villi, small finger-like structures that contain cells with genetic material identical to that of the fetus. By sampling these villi in a laboratory setting, it is possible to assess the health of the fetus.
During CVS, a small sample of chorionic villi from the placenta is collected for analysis. This test allows for the examination of the fetus' chromosomes, enabling the detection and diagnosis of chromosomal abnormalities and severe genetic disorders such as Down syndrome, as well as conditions involving excess or missing whole or partial chromosomes, similar to amniotic fluid testing. The tests that can be performed using this sampling method are identical to those done with amniotic fluid (except for amniotic fluid protein levels), making this an alternative option based on the individual's preference or decision.
In special cases, laboratory testing for a known single mutation or an X-linked condition may also be performed.
The significant advantage of this test is its early timing during pregnancy, which allows for the possibility of terminating the pregnancy if abnormal results are obtained. It is especially recommended when there is a known pre-existing risk that the fetus may have a genetic or chromosomal disorder (when parents are carriers, in cases of poor previous pregnancy outcomes).
There is a 1-2% risk of miscarriage associated with the testing.
Additionally, sometimes the results obtained may be inconclusive, necessitating further testing.
The test can be performed using one of two methods, with the choice determined by the location of the placenta and the required sample.
After local anesthesia, a needle is inserted through the abdominal wall into the placenta, and a sample is aspirated (biopsy).
A catheter is passed through the cervix into the uterus, and through it, the doctor aspirates a sample of tissue from the placenta.
The procedure is always guided by ultrasound to ensure precise positioning of the needle or catheter.
It is recommended to abstain from sexual intercourse for at least 72 hours after the procedure.
Strenuous physical activity should be avoided for 48 hours.
Consult with a doctor if there are cramps, bleeding, or an elevated temperature in the days following the test.
For additional information about Chorionic Villus Sampling (CVS), please click here.