Genetic Screening Specialist

What is genetic screening?

In obstetrics, genetic screening typically refers to prenatal testing for various genetic disorders. Genetic testing provides parents-to-be with valuable information about whether their growing fetus has certain genetic disorders.

Different types of genetic testing are performed before and during pregnancy. These tests determine whether a person carries a gene for certain inherited disorders. Dr. Krol often combines tests for more accurate results and a clearer picture.

What causes genetic disorders?

Genetic disorders are caused by changes in a person’s chromosomes or genes. Genetic disorders show up when there are missing or extra chromosomes, and changes in genes called mutations.

Examples of genetic disorders include sickle cell disease, Tay-Sachs disease, and cystic fibrosis.

In some cases, the abnormal gene increases the risk of developing the birth defect, but the birth defect doesn’t develop unless the fetus is exposed to specific substances, such as alcohol or certain drugs.

What does genetic screening involve?

Genetic screening is performed in a number of ways, such as ultrasound and blood testing, depending on what is being tested for and the stage of pregnancy.

Genetic screening tests screen the fetus for defects of the brain, spine, heart, abdomen, facial features, and more.

One test is called a nuchal translucency screening. This test measures the thickness of the space at the back of the fetus’s neck.

An abnormal measurement correlates to an increased risk that your fetus has Down syndrome or some other type of aneuploidy. It’s also connected to physical defects of the abdominal wall, heart, and skeleton.

Some forms of genetic testing are performed on prospective parents who aren’t pregnant using a blood or tissue sample, usually swabbed from inside the cheek.

What do the results of genetic screening mean?

Dr. Krol discusses your results and answers your questions in detail during your office visits. Results of screening tests are typically reported as the level of risk the disorder might present.

A positive screening test result means that your fetus has a higher risk of having the disorder compared to the general population. It doesn’t mean your fetus definitely has the disorder.

A negative result means that your fetus is at a lower risk of having the disorder compared to the general population. It’s important to remember that a negative result doesn’t rule out the possibility that your fetus has the disorder.

If you have concerns and you’re interested in genetic screening, use the online scheduling tool or call today.