Pregnancy is usually a time of excitement and anticipation. However, it can also cause worry and anxiety, especially if you are concerned that your baby might have health issues. Most babies are born healthy, but if you are worried, you may have decided to investigate prenatal testing.
Prenatal genetic testing has progressed over the years into a reliable way to identify risk factors. If a prenatal paternity test is something you are considering, read on to learn more about what to expect.
Testing vs Screening
The first thing that is important to understand is that prenatal screening and testing are two distinct procedures. Prenatal screening is generally the first step you will take. Screening starts with an interview with your health professional.
Age, family health history and ethnicity are considered, as certain nationalities have a higher chance of carrying specific genes. The information provided is then analyzed to identify if testing should be pursued. Testing is a diagnostic tool that can uncover whether a fetus has been affected by a genetic or environmental condition.
Many different types of testing are available to pregnant people, including ultrasounds, blood tests, chorionic villus sampling and amniocentesis.
What Prenatal Screening Tests Can Tell You
The results from your prenatal ultrasounds and blood tests can identify if a fetus has risk factors that indicate the presence of a genetic disorder called aneuploidy.
An aneuploidy means one or more chromosomes, either missing or extra. Down syndrome is a well-known example of aneuploidy, which occurs when there is an extra copy of chromosome 21. It is important to note that a positive screening result does not necessarily mean that your fetus has the disorder.
It means your fetus is at a higher risk of developing the specified condition than the general population. Conversely, a negative result does not indicate the absolute absence of the disorder but that there is a lower risk that your fetus will have it.
What Prenatal Diagnostic Tests Can Tell You
Diagnostic tests done by amniocentesis or CVS give a much more accurate result than screening tests can. If you have received positive results from your screening tests, your healthcare provider can advise you of the best steps. Prenatal diagnostic tests will confirm if a fetus is affected by a genetic disorder.
Diagnostic testing is the next step for people at increased risk because of their screening results, maternal age, genetic markers, or family history. These diagnostic tests can detect other chromosomal disorders that genetic screening tests do not pick up.
Types of Prenatal Diagnostic Tests
There are three types of diagnostic tests available. Chorionic villus sampling (CVS) is a first-trimester test performed between 10-13 weeks of pregnancy that tests placenta tissue. Amniocentesis is performed at 15 weeks or later. Amniotic fluid is extracted through a needle, and the cells inside the fluid are usable for testing.
Percutaneous umbilical blood sampling (PUBS) involves extracting fetal blood from the umbilical cord. It is the most accurate test but is not used as often as the first two. PUBS is sometimes used to confirm the results of amnio or CVS because it can’t be performed until 18-22 weeks.
The Pros of Undergoing Prenatal Testing
Prenatal tests can sometimes detect problems that can be treated during pregnancy. Testing can also alert your healthcare provider to a condition that requires immediate treatment after giving birth. For some, testing can ease anxiety by arming you with more information on your baby’s health.
It is also worth considering that when you know your baby has a genetic disorder, you can better prepare yourself and your home for the arrival of a baby with special needs.
The Cons of Undergoing Prenatal Testing
The most significant risk associated with prenatal testing is unreliable results. Errors may result in a congenital disability being identified incorrectly or, in some cases, not at all. It is also possible to have a false positive result produced.
Whether or not a pregnant person chooses to get genetic screening done is a personal decision. Positive results could lead to heightened emotions. Suppose screening indicates the need for further testing. In that case, you must weigh the risks of the specific diagnostic test recommended, like pain, anxiety, or increased possibility of miscarrying, against the importance of knowing the results.
Whether to undergo prenatal genetic testing is always a personal decision. Some people choose not to be screened at all. Others appreciate the opportunity to better understand what to expect and make decisions and preparations if necessary. If you are unsure about prenatal screening and testing, you should talk to your doctor or another healthcare professional. They can give you the knowledge and guidance you need to make an informed decision.
