As a gynecologist, I often meet expecting parents who are curious or concerned about Down syndrome and the tests related to it during pregnancy. This blog is here to guide you through it all — in simple terms — so you feel informed and reassured.
What Is Down Syndrome?
Down syndrome is a genetic condition that happens when a baby has an extra copy of chromosome 21. It can affect the child’s development and may cause learning delays, certain health issues, or facial features that are a bit different.
It can happen in any pregnancy — not just in older women. While the risk does increase with maternal age, we now know that many cases also happen in younger women. That’s why doctors offer screening and testing during pregnancy — to check how likely it is that the baby might have Down syndrome.
🕐 First Trimester Screening (11 to 13 Weeks)
During your first few months of pregnancy, we do two simple tests:
• NT Scan (Nuchal Translucency Scan):
An ultrasound to check the fluid at the back of the baby’s neck. More fluid than usual may be a sign of Down syndrome.
• Double Marker Test:
A blood test that looks at certain hormones to help us understand the baby’s risk.
Together, these give us a risk estimate — not a yes or no, just a percentage chance. If the risk is high, we may recommend further testing.
📅 Second Trimester Tests
As your pregnancy progresses, we might do:
• Triple or Quadruple Marker Test:
Another blood test (usually around 15–20 weeks) to check hormone levels that may signal a higher chance of Down syndrome.
• Level 2 Ultrasound (Anomaly Scan):
A detailed ultrasound around 18–22 weeks to look at the baby’s development. Sometimes, we may spot signs (called “soft markers”) that can suggest Down syndrome.
These are screening tests, not final answers. They help us decide if we need to look deeper.
🧪 Advanced Testing: NIPT
NIPT (Non-Invasive Prenatal Testing) is a simple blood test done after 10 weeks. It checks tiny bits of the baby’s DNA in your blood.
✅ Very accurate (more than 98%)
✅ No risk to the baby
❗ Still a screening test — not 100% final
If the NIPT result is positive, we’ll talk about doing a diagnostic test to confirm.
✅ Confirming with Diagnostic Tests
If any of the above tests suggest a high risk, we may offer you one of these:
• Chorionic Villus Sampling (CVS):
Done early (around 10–13 weeks). We take a small sample from the placenta.
• Amniocentesis:
Done later (after 15 weeks). We take a small amount of fluid from around the baby.
These are the only tests that give a clear yes or no about Down syndrome. But they are slightly invasive and carry a small risk of miscarriage (less than 1%).
💬 Final Thoughts
Screening for Down syndrome is your choice. Some parents want to know early, some prefer not to test at all. Whatever you choose, we are here to support you with kindness and respect.
If any test shows a high chance of Down syndrome, please don’t panic. We’ll explain everything, guide you through the options, and help you make the decision that’s right for your family.
Your peace of mind matters — and we’re with you every step of the way.