Understanding Prenatal Genetic Testing

Would you want to know ahead of time that your unborn baby has Down syndrome, cystic fibrosis or a heart defect? Not all pregnant women will answer the same. Genetic testing can be recommended more in certain patients than others, but it is generally optional and a personal choice for each woman. While prenatal testing can provide valuable insight about your baby, it is understandable to have concerns about the accuracy and risks about this screening or feel worried about false positives.

At North Pointe OB/GYN, we do our best to help patients have all the resources they need for a healthy and safe pregnancy, which includes prenatal genetic testing and genetic counseling when chosen. We can help you weigh the benefits and risks of undergoing genetic screening as it pertains to your unique pregnancy.


Screening Tests Vs Diagnostic Tests

In general, there are two main types of prenatal tests that are available to you: screening tests and diagnostic tests. Screening tests can include blood tests and/or ultrasounds to screen for genetic and chromosomal abnormalities. Genetic screening tests include carrier testing, Nuchal Translucency, Cell-Free DNA (Harmony) and AFP (Alpha Fetal Protein). This can reveal a condition or disease in your baby that was passed down in your DNA or one the developed due to chromosome malformation. Ultrasound imaging can also help to screen for structural defects in the fetus, including those within the heart, spine or extremities.

Diagnostic tests, on the other hand, are often performed after a screening reveals a potential problem or if the expectant mother is at high risk for a genetic condition. Diagnostic tests include Chorionic Villus Sampling and Amniocentesis that involve extracting placenta cells or amniotic fluid. Amniocentesis is highly accurate in detecting chromosome abnormalities, neural tube defects and genetic disorders such as Down syndrome, cystic fibrosis and spina bifida. With advances in ultrasound technology, the risks of having an amniocentesis are greatly reduced.


Determining What is Best for You

While prenatal genetic screening is more precise and accurate than it was in previous decades, tests are not 100% foolproof. There is a risk of a false positive or false negative. While some women want to know about potential genetic condition so that they can emotionally, mentally and physically prepare before giving birth, other women do not want to run the risk of bad news or inaccurate results. The choice is a personal one and we are here to help guide you at North Pointe OB/GYN in Cumming. To learn more about prenatal genetic screening, please call us today.

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