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If you have a family history of genetic disorders or have had a history of difficult pregnancies, you might be considering prenatal genetic testing. Diagnostic testing can be incredibly beneficial when trying to create the best pregnancy plan for you and your fetus.

What is Genetic Testing?

Prenatal genetic testing is performed to determine whether a fetus is at risk for a genetic disorder. Genetic disorders are caused by an abnormality in people’s genes like missing or extra chromosomes. Diagnostic genetic testing looks for these mutations to ease parents’ worries and/or prepare them for the medical care their child might need. There are two main types of invasive genetic testing: Chorionic Villous Sampling (CVS) and amniocentesis testing. These types of tests are different than noninvasive prenatal screenings because they diagnose rather than screen for certain genetic conditions. Prenatal screening only tells patients whether their fetus is at a high risk of having a genetic disorder. All patient considering invasive genetic testing are advised to speak to a boarded genetic counselor to review their options and understand thoroughly the type of tests being ordered.

CVS Testing

CVS (chorionic villus sample) can be completed between 10-12 weeks after gestation. The test is performed in theoffice by two different routes. A needle can be inserted abdominally, or a catheter can be inserted vaginally, to obtain a sample of placental cells. This is done under ultrasound guidance and there is a less than 0.5% chance of your fetus being injured when the test is performed by skilled doctors. Results can come back quickly depending on which type of genetic analysis is ordered.

Amniocentesis Testing

An amniocentesis is aninvasive test that can be performed at 16-18 weeks or any time afterwards. A needle will be inserted through the abdomen into the amniotic sac and a small amount of fluid will be obtained. cCells found in the amniotic fluid are then tested, and again speed of results depends on which type of genetic analysis is ordered.

Which Type is Testing is Right for You?

The choice of test you receive (or whether you choose to have invasive genetic testing) is completely up to you. The gestational age at which each test can be administered and how long the results take to come back could be deciding factors for patients considering invasive genetic testing, but sometimes there are other things to consider. Think about how you will use the results in your pregnancy care and whether you simply want to know the potential risk or have a more definitive answer. At your initial appointment, we can discuss your testing options in more detail to help you make an informed treatment decision.

Learn More About Genetic Testing in New York

At Carnegie Imaging, we are partnered with leading maternal-fetal medicine specialists, genetic counselors, and geneticists who offer cutting-edge genetic testing with personalized care. Schedule an appointment today at one of our two offices to learn more about your options for fetal genetic testing with our exceptional team.

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!