Genetic Testing in Pregnancy

If you’re expecting a child or trying to get pregnant, you may have wondered which genetic tests to get when pregnant. I know that there can be misconceptions about the purpose of genetic testing, so I wanted to talk about my thoughts on the procedure, and how we at A Woman’s Healing Center handle testing.

What Is Genetic Testing?

Genetic testing gives parents an opportunity to find out if their baby has certain genetic disorders before they are born. This can be done either before you are pregnant, or during pregnancy.

What Is a Genetic Disorder?

Genetic disorders are caused by changes in genes or chromosomes. This might mean that a baby has extra or missing chromosomes, which is called aneuploidy, or an inherited gene disorder.

Within the category of aneuploidy, there are two subcategories. Having an extra is called trisomy, and having a missing chromosome is called monosomy.

Inherited gene disorders are referred to as mutations. Some gene disorders include sickle-cell anemia, cystic fibrosis, or Tay-Sachs disease. In most cases, both parents must have the same mutated gene in order to pass it on to their child.

Why Should I Have Genetic Testing In Pregnancy?

There are a variety of reasons to have genetic testing done while you’re pregnant. Firstly, genetic testing has grown by leaps and bounds in the 25 years that I’ve been in practice. We can now test for a wide variety of disorders so that parents feel prepared.

For example, genetic testing can be used to screen for conditions like Trisomy 21, or Down Syndrome. If parents understand the needs of a child with Down Syndrome before they are born, they can find support groups and ensure that they have the right tools at their disposal to take care of their baby.

Genetic testing can also screen for enzyme deficiencies. In this case, the parents can be proactive in providing their baby with a certain diet, supplements, etc. If the parents aren’t aware of these deficiencies, their baby can be sick and lose brain function while doctors are trying to find a diagnosis.

Genetic Testing At A Woman’s Healing Center

No matter your decision, our doctors at A Woman’s Healing Center will be there to support you. Whether you want to have genetic testing done or not, and whether or not you choose to carry a child with gene disorders to full term, we’re here to support your choice and will be your health advocate. If you have any questions about the genetic testing procedure, the disorders we screen for, or how disorders are diagnosed, please don’t hesitate to reach out to us.

You can also find more information from the American College of Obstetricians and Gynecologists.