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CVS and amniocentesis are two types of genetic testing that can be used to create a care plan for you and your baby. These tests are not needed for every pregnancy. In an episode of the Healthful Women podcast, Dr. Nathan Fox and MFMA founder and president Dr. Andrei Rebarber discuss who might benefit from these tests and what you can expect from each one.

What is CVS Testing?

CVS (chorionic villus sampling) is a prenatal genetic test that uses a sample of the placenta to test for genetic problems. It can detect chromosomal abnormalities like Trisomy 21 (Down syndrome) and Trisomy 18 (Edward syndrome) as well as other genetic conditions like cystic fibrosis or Tay-Sachs disease. CVS testing can be performed transvaginally using a small catheter or transabdominally using a needle.

What is Amniocentesis?

Amniocentesis is another type of prenatal test used to diagnose possible genetic conditions. This test is performed abdominally with a small, hollow needle inserted into the stomach. A small sample of amniotic fluid (the fluid surrounding the baby in the uterus) is taken and will be tested for chromosomal abnormalities.

What are the Risks of Genetic Testing?

A recent analysis of multiple studies published in 2019 confirmed the general safety of genetic testing. The risk of miscarriage was 0.3% for amniocentesis and there were no significant findings for miscarriage risk associated with CVS. Women may also be concerned about injury to the fetus, but a fetal injury is a rare occurrence.

Who Should Have Genetic Testing?

In the podcast, Dr. Fox explains that some of the most common reasons are “25% of having a baby with a certain genetic condition, and you want to test for it. So that’s sort of like one bucket. Another one is, you know, you did some screening, and your risk has increased, and you want to find out, you know, what’s going on. So that’s the second bucket… the third is just, you know, simple reassurance.”

Women who already have a child with a genetic condition or women who are older than 35 might be more strongly encouraged to have genetic testing. A family history of genetic conditions from either partner may also warrant the need for genetic testing. Your maternal fetal medicine specialist will discuss your medical history with you to determine whether genetic testing could be a beneficial part of your treatment plan. A genetic counselor or high-risk pregnancy expert can also inform you properly about testing options.

Schedule an Appointment

Carnegie Imaging is a leading provider of women’s ultrasound and testing services in New York. To learn more about genetic testing and whether you should receive a CVS test or amniocentesis, schedule an appointment today by calling our office or filling out an online contact form.

Carnegie Imaging for Women blogs are intended for educational purposes only and do not replace certified professional care. Medical conditions vary and change frequently. Please ask your doctor any questions you may have regarding your condition to receive a proper diagnosis or risk analysis. Thank you!