Genetic testing before pregnancy

Genetic testing is an option for expectant individuals in the process of preparing for their baby and new life as a growing family.

Several prenatal screening options are available for expectant women that can be administered at certain points throughout the pregnancy.

In the first trimester, certain chromosome conditions can be screened for, such as Down syndrome and Trisomy 18 through a combination of ultrasound and blood work.

In the second trimester, specific chromosome conditions and common birth defects, such as open spina bifida, can be screened for through maternal blood work.

Detailed ultrasound in the second trimester can also identify findings suggestive of these and other conditions.

Another type of test that people are beginning to hear more about is called non-invasive prenatal testing (NIPT), which is available throughout the pregnancy beginning at 10 weeks gestation.

This blood test is the most accurate screen for specific chromosome conditions, and is usually administered for patients who are identified to have a higher chance for having a child with these conditions.

It is important to note that screening tests do not provide a definitive diagnosis but rather give the likelihood that specific conditions may be present in the pregnancy.

There are also diagnostic tests that can be done throughout a pregnancy for individuals identified to have an increased chance for chromosome or genetic conditions in a pregnancy.

In the first trimester, a test called chorionic villus sampling (CVS) is available, which gathers a sample from the developing placenta to analyze the chromosomes.

In the second trimester, an amniocentesis can be administered, which takes a sampling of the amniotic fluid to examine the chromosomes, as well as test for open neural tube defects.

These tests also have an associated chance for complications to a pregnancy.

It is important to discuss all aspects of CVS or amniocentesis with a doctor or genetic counselor prior to pursuing either testing option.

Genetic testing is an option for expectant individuals and couples that can, for some, help alleviate some of the anxiety of starting a family. However, for other individuals, the available screens and tests may have the opposite effect and increase concern.

Thus, it is important to become well informed of the testing options available to be able to decide whether or not they would be helpful to you during a pregnancy.

Genetic counselors help start a communication process with expectant individuals and couples to take a closer look at their personal and family health histories, as well as current factors in the pregnancy to assess the chance for certain genetic conditions in a pregnancy and help promote informed choices about testing done during the pregnancy.

Our community is fortunate, the Center for Maternal Fetal Care at Cone Health Women’s Hospital offers the latest advancements in prenatal screening options; and in addition, and has partnered with Wake Forest Baptist Health to provide an exceptional team of genetic counselors who work with individuals and couples who are expecting a baby to help them plan and prepare for their new family.

To learn more about genetic counseling, prenatal screening options and other services available at Cone Health Women’s Hospital’s Center for Maternal Fetal Care, please call (336) 832-6986 or visit http://www.conehealth.com.

Spokesperson Background:

Karen Corneliussen is a genetic counselor at Cone Health Women’s Hospital Center for Maternal Fetal Care and at Wake Forest Baptist Medical Center.

Corneliussen received a Bachelor of Science in Biology from the University of North Carolina at Chapel Hill in 2004, and received a Master of Science in genetic counseling at the University of South Carolina in 2007.

1 Comment

  • Nikita Mehta

    This was a nice summary by your genetic counselor about testing options. However, I want to clarify that these tests can only be done DURING pregnancy, not before as the title states.

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