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It’s likely that you’ve heard of Down syndrome. When it comes to genetic conditions, Down syndrome is one of the most well-known. However, it’s still common to not know much about Down syndrome and how it can affect your baby. Your Maternal Fetal Medicine specialist can make sure you understand the right steps to take during pregnancy and beyond, but here’s what to know about Down syndrome and what you can expect if your baby has it.

What is Down Syndrome?

Down syndrome (or trisomy 21) is a chromosomal condition. Chromosomes are parts of our cells that carry the genetic information that makes out bodies the way they are. In the case of Down syndrome, your baby has an extra copy of chromosome 21 where they would normally have only two—one from you and one from your partner. This affects how your baby develops and functions throughout their life. It happens in around 1 in every 700 babies, or at a rate of less than one percent. Babies born with Down syndrome can experience a range of difficulties, where some live long, healthy lives and others need ongoing medical care.

What Causes Down Syndrome?

There’s still ongoing study about what exactly causes Down syndrome to happen. However, there are some risk factors that can affect your baby’s chances, including older age when you get pregnant, you or your partner being a carrier for certain chromosomal changes, or previously having a child who has Down syndrome.

What Are the Types of Down Syndrome?

Trisomy 21

This is the most common type, and about 95 percent of people with Down syndrome have this type. This means that your baby has three copies of chromosome 21.

Translocation Down syndrome

This is a less common type, and it occurs in about 3 percent of people with Down syndrome. In this case, your baby has two copies of chromosome 21 but also has an extra part or whole chromosome 21 attached to a different chromosome. This type can be inherited from you or your partner from your genes.

Mosaic Down syndrome

This is the least common type, and it occurs in about 2 percent of people who have Down syndrome. This means that some cells have two copies of chromosome 21 while others have three. People with this type may only have some characteristics of Down syndrome.

How Can My Baby Be Tested For Down Syndrome?

There are ways to test for Down syndrome during pregnancy. It’s important to work with a genetic counselor if you or your partner have a family history of Down syndrome since it can sometimes be passed on. Tests for certain conditions are usually categorized into screening tests and diagnostic tests, and both can be beneficial to your baby’s outlook.

Screening Tests for Down Syndrome

Screening tests assess your baby’s risk for certain conditions but can’t confirm whether something like Down syndrome is present. They can usually be performed during the first and second trimesters. Blood tests can be an effective way to measure certain substances in your blood that might suggest your baby has Down syndrome, like a cell-free DNA test which checks your baby’s DNA found in your blood. Additionally, a nuchal translucency test can look for extra fluid at the back of your baby’s neck during a high-frequency ultrasound. This can sometimes indicate a higher risk for Down syndrome.

Diagnostic Tests for Down Syndrome

Diagnostic tests can confirm if Down syndrome is present in your baby. These tests are usually performed by taking a sample of your baby’s tissue or blood, or amniotic fluid in the womb. These tests can include chorionic villus sampling (CVS), amniocentesis, or percutaneous umbilical cord sampling.

What’s My Baby’s Outlook If They Have Down Syndrome?

There are certain physical characteristics that can indicate your baby has Down syndrome, and these can mean your baby might experience problems developing as they grow up. Down syndrome can cause medical problems like heart defects, obstructive sleep apnea, vision and hearing difficulties, blood disorders, digestive problems, musculoskeletal problems, and hormonal problems. Additionally, it’s common for babies with Down syndrome to have intellectual and developmental disabilities, as well as emotional and mental health concerns. The learning and medical problems in babies with Down syndrome can range from mild to severe. Each baby will have different concerns when it comes to Down syndrome, but it’s possible for them to live happy and healthy lives with the right interventions. Your Maternal Fetal Medicine specialist can give you the best idea of what to expect if your baby has Down syndrome and what steps to take.

Schedule an Appointment

Down syndrome can be extremely difficult to navigate, but our award-winning team of Maternal Fetal Medicine specialists can help. To meet with our team and learn more, we invite you to contact our New York City office by calling or filling out our online form.

Carnegie Imaging for Women blogs are intended for educational purposes only and do not replace certified professional care. Medical conditions vary and change frequently. Please ask your doctor any questions you may have regarding your condition to receive a proper diagnosis or risk analysis. Thank you!