How and Why Down Syndrome Can Go Undetected In Pregnancy

Today the most unexpected surprise of my life will turn 3 years old!  We have come so far since that incredibly dark August afternoon when we learned that our newborn son had Down syndrome. The most important lesson we learned along the way is that sometimes the most unexpected things turn out to be the very best!

Down syndrome

In the Down syndrome community, you are put into one of three categories: those who found out prenatally, those who found out at birth and those who didn’t find out until their child was older. With all the advances in medicine and science these days, it’s hard to believe that the latter two still exist. Many people don’t realize just how common it is for Down syndrome to go undetected until after birth!

I can honestly admit that I never thought it would happen to me. Two years before I had Liam, I read an article about a mother who received a birth diagnosis. The tears streamed down my cheek at the power and beauty of her words, but I still found myself thinking, “HOW?!? How could they possibly miss this?” Two years later, I finally understood.

The truth is there are no guarantees in life. When I gave birth to Liam, I was young and completely healthy. I was fit, I exercised and I ate a well-rounded diet. Taking prenatal vitamins was part of my daily routine and I was in the midst of my prime child-bearing years. I didn’t drink, smoke or take any medication. The thought of having a baby with a genetic condition wasn’t even on my radar. I foolishly believed I would be exempt.

Many times the mother is mistakenly blamed for causing a child to have Down syndrome but that simply isn’t the case. The chances of having a child with Down syndrome increases with age, but the majority of mothers who have children with Down syndrome are UNDER the age of 35. Many people don’t realize that  Down syndrome is just a genetic condition that occurs at conception and in almost all cases, occurs by chance. (Less than 3% of all cases are inherited.) It can happen to anyone and there is absolutely NOTHING you can do to prevent it.

First and foremost, it’s important to understand that all those blood tests that are offered during the first trimester are just screening tests. Those tests determine your chance of having a child with Down syndrome. There are still false positives AND false negatives.

Ultrasound is another way Down syndrome is discovered prenatally. There are markers that often show up which would indicate Down syndrome. But just as often, the baby appears to be perfectly fine. Once again, this is just another form of a screening test. Although an ultrasound could lead to further testing, it isn’t a foolproof method.

If the mother is believed to be at risk, the most common diagnostic tests are  Amniocentesis or CVS, in which amniotic fluid or cells are taken through a needle and tested. Those tests are the only accurate tests to confirm Down syndrome prenatally, but because they are invasive, there is a chance that it could result in miscarriage. These diagnostic tests aren’t usually performed unless the mother is at high risk.

I had a 1 in 891 chance of having a child with Down syndrome. I didn’t think it would ever happen to me.

There was nothing to suggest otherwise. My blood work was normal and all the ultrasounds showed a “textbook” perfect baby. The results were reviewed by 2 ultrasound technicians and 5 doctors.  Liam’s measurements were always right on track and all of his organs were healthy. We expected nothing but a perfect, healthy baby.

Imagine our surprise in the delivery room! I knew something was wrong the moment he was born and whisked away. The doctor didn’t even lift him up to show us.  When he was finally handed to me, I glanced down at his face and I knew. I just knew and the pain was so intense that it took my breath away.

The doctors who were overseeing Liam’s care were divided. Two of them suspected Down syndrome and two of them didn’t believe he had that condition. I was repeatedly asked about prenatal testing and  ultrasounds and the results were reviewed over and over again. I finally asked if there was anything that the other doctors missed during my pregnancy and the answer was, “No. There was absolutely nothing there to suggest anything but a perfect baby.”

My view on perfection has changed drastically over the past 3 years. Every human being has imperfections. Liam’s “imperfection” is just visible. The other qualities he possesses are far superior than that extra chromosome that caused his genetic condition.

Down syndrome

Pregnant women are taught to fear Down syndrome more than anything else, but trust me when I say there are far worse monsters out there.  It took three weeks to receive Liam’s genetic test results after his birth. The norm is 48-72 hours.  I called every few days and was informed that they were having trouble getting definitive results.

When our pediatrician finally called us with the news, I let out a sigh of relief. After reading up on everything that they could possibly be testing for, I was so thankful that it was only Down syndrome. I encourage people to stop fearing Down syndrome. The world is changing and Down syndrome today is nothing like how it used to be.

Every parent wants and expects a perfect baby, but sometimes when you embrace “imperfection” a whole new world of love and beauty opens up. My words are not meant to cause fear. They are only meant to educate. I once wondered how Down syndrome could possibly go undetected and now I know quite well.

In the end, how my diagnosis occurred doesn’t even matter. Even if I had known prenatally I still would have chosen my son. Liam changed me and changed my views on everything. I was so terrified at the beginning and I didn’t want to be on this journey, but the past 3 years have been far more beautiful than I ever imagined. Most days I completely forget my son has Down syndrome. It’s just a tiny fraction of the amazing person he is.

Happy 3rd Birthday, my sweet boy. You are a ray of light who brightens each and every day.  You have touched the lives of so many people near and far, which is an incredible indication of who you truly are. And that person is beautiful, perfect and loved beyond measure!

Down syndrome


To find out what Down syndrome is really like, you can follow along on Liam’s adventures on Stefanie’s Blog, Facebook Page or Instagram.

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Stefanie Settlemire
Stefanie is a wife and SAHM to 4 children, living in Mars. Stefanie and her husband refer to their children as Phase One (Dylan-Age 13 and Alexandria-Age 10) and Phase Two (Liliana-Age 6 and Liam-Age 4). Phase Three is out of the question! Stefanie’s family became a family blessed with Down syndrome when her youngest child had a surprise diagnosis after his birth. Although the family’s initial reaction was shock and fear, they quickly learned to embrace this beautiful journey and they now realize what the term “The Lucky Few” really means. Stefanie spends her days wrangling chaos. In addition to four kids, her family has 4 large pet rabbits...the more the merrier! In her spare time she loves to embarrass her children by singing show tunes from her musical theater days, come up with messy projects to keep her children busy, chase her children around with her camera, read, volunteer for the Down Syndrome Diagnosis Network, blog at and post daily on Instagram ( Sleep is just a distant memory!