Important Facts You Learn from Genetic Testing During Pregnancy

Pregnancy is an exciting time for many families, but it can also be a time of uncertainty and anxiety. Genetic testing during pregnancy can help alleviate some of these worries by providing valuable information about the health of the developing baby.

In this blog, we will explore what happens during genetic testing, what you can discover through genetic testing, and how to know if it is right for you.

What is Genetic Testing?

Genetic testing is a medical test that looks for changes in a person’s genes, chromosomes, or proteins. These changes, called mutations, can increase the risk of certain diseases or disorders. Genetic testing can be performed on a person at any age. However, genetic testing is particularly useful during pregnancy, when it helps identify any genetic disorders that may affect the baby.

What Information Can Genetic Testing During Pregnancy Provide?

Genetic testing during pregnancy can provide important information about the health and development of the fetus.

For example, prenatal genetic testing can detect Down syndrome, cystic fibrosis, sickle cell anemia, and other genetic disorders. Additionally, genetic testing can reveal the sex of the baby and identify certain genetic conditions that may be more common in specific ethnic or racial groups.

This information will help us make informed decisions about your health, including whether further testing or treatment is necessary. Ultimately, genetic testing can provide valuable information that can help you prepare for the birth of your child.

What Can You Discover Through Genetic Testing During Pregnancy?

Some of the conditions that can be detected through genetic testing include:

Chromosomal Abnormalities: Genetic testing can detect chromosomal abnormalities such as Down syndrome, Edwards syndrome, and Patau syndrome.
Genetic Disorders: Genetic testing can detect genetic disorders such as cystic fibrosis, sickle cell anemia, and Tay-Sachs disease.
Carrier Status: Genetic testing can determine if the parents are carriers of certain genetic disorders. If both parents are carriers, there is a chance that their child may inherit the disorder.

What Happens During Genetic Testing?

There are several different types of genetic testing that can be performed during pregnancy. The most common tests are:

Non-Invasive Prenatal Testing

NIPT is a blood test that screens for common chromosomal abnormalities, such as Down syndrome, Edwards syndrome, and Patau syndrome. This test is usually performed around 10-12 weeks of pregnancy and is considered to be very accurate. This is a non-invasive test, so there is no risk with this type of testing to either the mother or the fetus.

Nuchal Translucency Testing

This is an ultrasound measurement of the fetal neck fold. It’s typically done between 11 and 14 weeks of pregnancy to assess the risk of chromosomal abnormalities, particularly Down syndrome.

During the test, an ultrasound scan is performed to measure the thickness of the fluid-filled space at the back of the baby’s neck, known as the nuchal translucency (NT). A higher-than-normal measurement may indicate an increased likelihood of certain genetic disorders.

The NT measurement, combined with the mother’s age, blood tests, and other factors, helps calculate the overall risk of chromosomal abnormalities in the fetus. Nuchal Translucency testing is a valuable tool in early pregnancy care.

Chorionic Villus Sampling (CVS)

Chorionic villus sampling (CVS) is a prenatal diagnostic test that is performed during pregnancy to detect chromosomal abnormalities and genetic disorders in the developing fetus. This procedure is typically performed between 10-13 weeks of pregnancy and involves taking a small sample of the placenta.

Before the procedure, you’ll meet with us to discuss the risks and benefits of the test. After we review your medical history and perform a physical exam, we will refer you to a specialist to have this procedure if you decide you want to have it.

During the procedure, they will use ultrasound to guide a thin needle through your abdomen or cervix and into the placenta. A small sample of tissue will then be taken from the placenta and sent to a laboratory for analysis.

Amniocentesis

Amniocentesis is a test that involves taking a sample of the amniotic fluid to test for chromosomal abnormalities and genetic disorders. This test is usually performed around 15-20 weeks of pregnancy. It involves taking a small sample of the amniotic fluid surrounding the fetus. We’ll discuss the risks and benefits of the test.

During the procedure, a specialist will use ultrasound to guide a thin needle through your abdomen and into the amniotic sac. The specialist removes a small amount of amniotic fluid and sends it to a laboratory for detailed examination.

Is Genetic Testing Worthwhile During Pregnancy?

Deciding whether or not to undergo genetic testing during pregnancy is a personal decision. Some factors that you should consider when making your decision include:

Age: Women over the age of 35 are at a higher risk of having a child with chromosomal abnormalities.
Family History: If there is a family history of genetic disorders, the risk of having a child with a genetic disorder may be increased.
Previous Pregnancy: If a woman has had a previous pregnancy with a genetic disorder, the risk of having another child with the same disorder may be increased.
Personal Preference: Some women may choose to undergo genetic testing simply for peace of mind, while others may choose not to undergo testing due to the potential risks involved.

Not Sure Where to Begin? Our OBGYNs in Raleigh Are Ready to Answer Your Questions About Genetic Testing

If you’re not sure if genetic testing during pregnancy is the right choice for you, simply talk to us. We will take the time to listen and provide the information you need to make an informed decision.

With a team of experienced obstetricians and gynecologists, we offer a wide range of services to meet your specific needs at every stage of life. Are you planning to start a family? Maybe you need a routine check-up. If you need specialized care, our dedicated professionals are here to support you.

Whether you’re planning to start a family or you’re entering menopause, our healthcare team is there for you through all stages of life. Contact us to schedule an appointment.