You just find out that you’re pregnant. Congratulations are in order of course. The nine months of pregnancy are a period of lots of anxiety, trepidation, and for first-time parents, a lot of firsts. The first ultrasound, the first kick in the belly… However, out of the many tests that you’ll be assigned to take during pregnancy, there are a few that are optional.
Yes, each semester of the pregnancy requires plenty of monitoring, tests, and guidelines to ensure the pregnancy is healthy for the mother and the baby. Every parent is hoping to have a healthy baby, and prenatal screening tests are a great way to be certain of that.
What Are Prenatal Genetic Tests?
They’re tests that are designed to give future parents information regarding the potential genetic disorders that their child might have. Most of the genetic disorders are inherited disorders from one or both parents, so it’s best to know them early in pregnancy. It’s worth noting here that genetic tests can be performed even before pregnancy, if both of the partners would like to ensure they’re not carriers of some genetic disorder. But for now, we’re going to focus solely on the prenatal ones.

There are two main types of prenatal genetic tests. Prenatal screening tests and Prenatal diagnostic tests. The former determines if the baby is likely (or has a risk) to have some birth defects, while the latter determines if a baby does have a birth defect. Diagnostic tests are the only way to establish a diagnosis, but both of these tests are optional.
First Trimester Screening Tests
The most common are the first-trimester screening tests. Otherwise known as Combined first-trimester screening (CFTS). Those can include tests that indicate the risk of Down syndrome (trisomy 21 or presence of an extra chromosome at position 21), Edwards syndrome (trisomy 18), and Patau syndrome (trisomy 13). The tests are compiled from blood work, a nuchal translucency (NT) screening ultrasound, mother’s age and weight determination, and the age of the pregnancy. They’re usually done between week 9 and week 13 of the pregnancy and yes. They are optional as well.
Prenatal Diagnostic Tests
These tests can determine with accuracy greater than 99.9 percent whether or not a developing baby has a chromosomal abnormality. Most commonly used one is amniocentesis. It is performed in the second trimester. Usually, if the first trimester screening test shows a certain level of risk for genetic disorder, or if the mother is older than 35 years, the doctor may recommend an optional diagnostic test.
Why Should You Have Prenatal Genetic Screening Tests?
Well, as we mentioned the tests are elective and depend on the personal preferences of the parents. However, there are many reasons why parents may choose to do these tests. One of those reasons is the family history of some of the genetic disorders. If one or both of the parents have a family member with some genetic disorder, there is high probability that their baby would inherit it as well. One more reason is if the expectant mother is over the age of 35, while another is if the mother has had a history of miscarriages or stillbirths.
Whatever you choose to do, it’s best to consult with your doctor first. The medical team will advise you on the types of tests and the options that you might have as the pregnancy progresses.