It is a time filled with excitement and sometimes fears for almost all women— pregnancy isn’t easy. Add to that concern that the baby might have health issues, and you have the perfect recipe for anxiety. Although most babies are healthy from birth, it is important to know your rights and options for getting information about your baby’s condition before they are born. This is made possible by prenatal testing.
These are the broad categories under which prenatal testing types can be divided—
- Prenatal screening tests—These tests are used to determine if your baby is likely to develop certain birth defects. Many of these problems are genetic disorders. Prenatal tests include blood tests and a special type of ultrasound. These screening tests can be offered in the first or second trimester. Screening tests are not meant for making a diagnosis. Your health care provider will discuss the options with you for a diagnostic test in order to confirm the results of the screening.
- Diagnostic tests— A prenatal diagnostic test may be recommended if a screening test shows a potential problem. Only a diagnostic test can confirm a diagnosis. However, there is a small chance of miscarriage with some diagnostic tests such as amniocentesis and chorionic villus sampling.
The various screening tests have been discussed here—
- First-trimester screening—Your health care provider will perform a blood test and ultrasonography to determine the amount of clear tissue in the baby’s neck (nuchal transparency) during your first trimester. The measurement of nuchal translucency is abnormally high in Down syndrome and certain other conditions.
- Second-trimester screening—Your health care provider may offer a second blood test, the quad screen. The test checks for four substances in your blood. The results indicate the risk of having a baby with certain chromosomal conditions such as Down syndrome. This test can detect neural tube defects, which are serious disorders of the brain and spinal cord.
- Prenatal cell-free DNA screening— This blood test checks for chromosome abnormalities in the foetus’ bloodstream. This screening can provide information about the baby’s gender and rhesus blood type.
What is important for you to know?
Prenatal screening for foetal abnormalities is optional. And that is why it’s important that you make informed decisions about your prenatal testing. These are the questions to ask before you proceed:
- What next step are you going to take after you receive the test results?
Normal results can help ease anxiety. However, prenatal testing may reveal that your baby could have a birth defect. If this happens, you might need to make difficult decisions, such as whether or not to continue the pregnancy. You might also welcome the chance to plan ahead for your baby’s health.
- Will the test results impact your prenatal care decisions?
Prenatal testing can detect issues that can be treated while pregnant. Prenatal testing can alert your doctor to conditions that require immediate attention after delivery.
- Are the test results accurate?
Prenatal screening isn’t always perfect. There are a variety of false-positive and false-negative results.
- Are there risks involved?
Consider the various risks that might be involved with the kind of testing you want to get done, such as anxiety, pain, and miscarriage, and then decide whether or not you want to go ahead with the test.
It is your decision whether or not you want to proceed with prenatal testing. Talk to your doctor about the benefits and risks of prenatal testing. A genetic counsellor may be available to help you. Seek help if you deem it necessary. Choose the right test and understand the results.
It is important to take the time to review all available options so that you can make the right decision for your baby.
How to decide if prenatal testing is right for you?
Prenatal screening is a personal decision. There is no right or wrong answer. Prenatal screening is a voluntary choice. Still, it is vital that you know if your baby is at greater risk of developing a chromosome defect.
- What would you expect from your health care provider after receiving positive results?
The health care provider might recommend that the baby’s birth plan or how they are looked after being modified if there is a chromosome problem. If you have any questions, your doctor may be able to help you make a decision.
- If your baby is born with a chromosome variation, what would be your thoughts on continuing or terminating your pregnancy?
It’s important to make this decision making a lot of considerations into account. Take the advice of your doctor.
- What if I don’t take the tests?
Your health care provider will continue to care for you even if you decide not to have the tests. An ultrasound scan, however, is done during pregnancy. These tests provide valuable information and go beyond the screening for trisomy 21 or trisomy 18. These ultrasounds can provide you with information such as how far along you are in your pregnancy, how many children you are carrying, apart from whether there are any concerns about the baby’s anatomy and growth.
Talking about diagnostic tests, the QF PCR Test is one of the most popular. Many laboratories have used quantitative fluorescent PCR (QF-PCR) to prenatally diagnose the most common aneuploidies. The QF-PCR process is fast, efficient, and can be automated to detect the majority of abnormalities diagnosed by karyotyping.
