Screening Tests for Genetic Diseases

My dear patients, I understand that pregnancy can be both thrilling and overwhelming, and I’m here to guide you every step of the way. But I need you to focus, listen closely, and take these screening tests seriously. These medical tests are vital to ensuring your and your baby’s well-being. I’m here to guide you, but it’s important you follow through with all recommended tests. I’m not saying this just to add more appointments to your schedule; these tests can save you from heartache later on. You need to trust me on this.

What Are Genetic Diseases?

Genetic disorders occur due to DNA mutations passed down from one or both parents. Sometimes, these conditions are obvious from birth, but other times they don’t show up until later. And here’s the thing – by the time you notice symptoms in your child, it might be too late to do anything about it.

Genetic diseases can be:

Inherited from one or both parents: Parents often carry gene mutations without showing symptoms, and they can pass these on to their children. I’m telling you this because you need to understand that genetics play a bigger role than you think.
Spontaneous mutations: These mutations happen in the egg or sperm cells, not inherited from the parents. And I need you to know that this can happen to anyone.

Why Should You Consider Genetic Screening During Pregnancy?

You need to understand that genetic screening during pregnancy isn’t a luxury or a mere suggestion—it’s necessary. These tests provide valuable information, and skipping them can lead to complications that could have been avoided with early detection. Don’t make the mistake of neglecting them.

Early Detection: You can catch potential problems early and manage them. Some genetic conditions can be detected early in the pregnancy, and early intervention is the best chance you’ve got.
Informed Decision-Making: Genetic testing provides valuable insights, allowing you to make well-informed choices. I’m here to support you, but you need to take the responsibility of learning about what’s ahead seriously.
Better Pregnancy Management: If a genetic condition is detected, we can plan accordingly—whether that means more frequent visits, specialists, or preparing for post-birth care. Don’t just wait for things to happen—take charge now.
Family Planning: This is not just about now; it’s about your future. If you or your partner carry a genetic mutation, it’s better to know so you can plan for the future accordingly. Ignoring this will lead to regrets later.

Types of Genetic Screening Tests

Now, let’s get to the important part. There are two major genetic tests – screening tests, which estimate risks, and diagnostic tests, which confirm conditions. You need to take them both seriously.

1. Screening Tests:

These are the first step. Screening tests assess the risk of a genetic condition, and they’re non-invasive. This means no one should be avoiding these tests. I won’t allow you to skip them, because they give us an early warning.

First-Trimester Screening (11 to 13 Weeks): This is a critical period, and I will insist you get this done. The first trimester screening includes:
- Blood test: A specialized blood test will measure pregnancy-associated plasma protein-A (PAPP-A) and free beta-hCG to assess risks for genetic disorders like Down syndrome and trisomy 18.
- Ultrasound (Nuchal translucency scan): A Nuchal Translucency ultrasound measures the fluid behind your baby’s neck to identify potential chromosomal abnormalities. If this fluid is thicker than normal, it could suggest conditions like Down syndrome. Don’t even think about skipping this ultrasound.
Second-Trimester Screening (15 to 20 Weeks): You’re now in the second trimester, and it’s time for the quad screen or triple screen. This blood test checks for:
- Alpha-fetoprotein (AFP): High levels can indicate a neural tube defect.
- hCG, estriol, and inhibin A: These hormones can indicate an increased risk for Down syndrome, trisomy 18, or other conditions. I’m telling you, not doing this test is reckless.
Non-Invasive Prenatal Testing (NIPT) (from 10 Weeks): NIPT is the most advanced test we have, and it’s incredibly accurate. You need to get this blood test done. It can assess the risk for:
- Down syndrome (trisomy 21)
- Trisomy 18
- Trisomy 13
- Some sex chromosome abnormalities
And guess what? It’s non-invasive. No risk to the baby, and it provides reliable information. If you choose to avoid this test, I can’t help you.

2. Diagnostic Tests:

If the screening tests suggest a higher risk, I will recommend diagnostic tests. These tests are not optional. They carry some risk, but you should consider them to confirm any potential genetic problems.

Chorionic Villus Sampling (CVS) (10 to 13 Weeks): This involves collecting tissue from the placenta. It’s not pain-free, but it’s a critical test if the screening shows an increased risk. It helps diagnose conditions like Down syndrome and cystic fibrosis, but be aware: there’s a small risk of miscarriage with CVS.
Amniocentesis (15 to 20 Weeks): You will need amniocentesis if you’re at high risk. We take a sample of amniotic fluid and test it for genetic disorders like trisomies, cystic fibrosis, and neural tube defects. It’s not pleasant, but it’s necessary.

When Should You Consider Genetic Screening Tests?

It’s not just a suggestion—there are clear reasons why you should consider these tests:

Family History of Genetic Disorders

If there’s a history of genetic conditions in your family, there’s no excuse for avoiding these tests.

Age of the Mother

If you’re over 35, don’t even think about skipping screening. The risk of Down syndrome increases, and it’s better to know early on.

Ethnic Background

Some genetic disorders are more prevalent in certain ethnic groups, making screening an essential part of pregnancy care. You need to take this seriously and test accordingly.

Previous Pregnancy with Genetic Disorder

If you’ve had a baby with a genetic disorder before, don’t make the same mistake again by skipping these tests.

General Health Concerns

Even if you don’t have a family history, these tests give you peace of mind and help identify risks you wouldn’t otherwise know about.

Conclusion

Taking genetic tests seriously is crucial. These screenings empower you to take charge of your pregnancy and ensure the best health outcomes for both you and your baby. Don’t skip these steps, don’t ignore the signs, and don’t put off decisions that could make all the difference.

Frequently Asked Questions

Why should I do these genetic tests if I feel fine?

Just because you feel fine doesn’t mean your baby will be fine. These tests can detect conditions that might not show up until later, and the earlier we know, the better we can manage your pregnancy.

Are these tests painful?

Screening tests are not painful. You will only feel mild discomfort during blood draws or ultrasounds. However, diagnostic tests like amniocentesis or CVS involve a needle, and while they carry some risks, they are sometimes necessary to get definitive answers.

What if the results are positive?

A positive result doesn’t mean your baby definitely has the condition—it just means there’s an increased risk. If screening results indicate potential concerns, we may proceed with diagnostic testing to confirm any findings.

How soon will I get the results?

For screening tests, you should expect results within a week or two. Diagnostic tests like amniocentesis and CVS may take several weeks to provide conclusive results. Be patient, but don’t delay in making your appointments.

Can I refuse genetic testing?

Yes, but I strongly advise against it. These tests can give you valuable insight into your pregnancy, and by refusing them, you are depriving yourself of important information that could help you make critical decisions.

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