How did you find out your LO has Down syndrome?

Question

My new favorite quote, “Down syndrome was an unplanned journey, but we love our tour guide!” 
How did you find out your little one had Down syndrome?

Answer

During our second trimester quad screening, we tested positive with a 1/10 chance. From the beginning, we told our OB that the results didn’t matter. 
At our 5 month anatomy scan there were no soft signs. Her femur measured a week behind, but the doctor said she’s not at all worried. 
When she was born the pediatrician only wanted to test her because of the quad screening. The head of pediatrics said she had low muscle tone when she was sleeping. But that was the only sign. 
When she was 10 days old, we got the final diagnosis. She’s been very healthy and no medical issues so far.

Answer

I love that quote.  
Since 11 weeks we have been on a roller coaster.  
Our blood test came back with 1 in 5 chance of having a baby with Down syndrome, along with multiple soft markers.  We decided not to have an amnio. Because it wasn’t going to change our plan to have her, so we don’t have a 100% diagnosis but there’s been so many other indicators.  Good news is her fetal echo came back all clear! We go for growth ultrasounds every four weeks now. The last time there was a brightened bowel,  but doesn’t look like a blockage.  so I was sent for some more blood work which I’m currently waiting for the nurse to call with the explanation of results.   We are excited to meet her and hope that she is a healthy little munchkin.  
We have accepted the diagnosis, she’s our baby.  It is just so nerve wracking every time you go to the doctor.  
However,  more doc visits means more times we get to see our peanut on the screen!

Answer

We found out at birth.  We did not have the nuchal ultrasound at 12 weeks because to us it didn't matter.  We knew we would carry to term and we would find out at 20 weeks if there was something going on.  Well the 20 week scan we perfect according to doctors and ultrasound techs.  We did have to go twice as they couldn't see everything they needed to see on the first on but all was pronounced good!  We had a number of ultrasounds since then as Sarah was also breech and they were checking.  Each time we were told she was healthy and growing well!  We had a scheduled c-section and immediately after birth they started asking questions among themselves and the pediatrician was called.  She was very healthy and breast fed right away but they kept asking my husband about the ultrasounds.  I knew something was up and asked them if she had Down Syndrome.  They said yes she showed markers for it.  it was confirmed was the end of the week.  We were in absolute shock!!  All the blood work and assessments were quite stressful!

Answer

We did the quad screen and anatomy scans, and everything looked typical. Through every screening we had nothing but confirmation that our little guy was going to be healthy, average size, and on time through the whole pregnancy. 
He was born a week early, and one of the first things my husband overheard the doctor say was “we need to call a geneticist.” He was very thin, lethargic, but perfect to me. I had absolutely no idea. Throughout the next day my son was spitting up meconium, and we knew something was very wrong. They concluded that he had duodenal atresia (aka double bubble), and that he would need surgery immediately to correct it. This condition is fairly common with DS, so this with some facial markers prompted a genetic test. 
I would have given a lot to know before my son was born. Being able to deal with the emotional toil of the diagnosis, coupled with a needed surgery at three days old was much more than this first-time mom could handle, especially when my husband was an absolute wreck. Having time to process the diagnosis and learn what having Down syndrome truly means before he was here would have allowed us to better enjoy the first few weeks with our son.

Answer

We went in for our daughters 18 month check up (april 12 2019)they discovered a palmar crease on her hand and ordered a test done.  A week later I find out my almost 2 year old has mosaic down's syndrome.  It's caught us all off guard as there really weren't any other signs. She's reached all her milestones other then weight but her doctor wasn't concerned considering she was only 5lbs 3oz at birth 6 weeks early and only barely under the weight milestone. Not sure how it wasn't caught before but now we're playing catch up on all these extra tests she should've been having done regularly.(like the hearing and heart exam) It's been an emotional rollercoaster lately. Thinking about all the things she'll possibly go through but still hoping for the best. 
Any advise to a new Downs Momma is appreciated! 
Pics of my princess!

Answer

We had the Harmony test at 12 weeks. When the doctor called to give the results she explained that there was nothing to worry about and that we were having a boy. We had several ultrasounds and was told everything was great. 
At birth we knew something was wrong. His eyes were slanted up, his ears were very low set, low muscle tone... We asked our OB if everything was alright and she said yes but the nurses kept whispering and there was and odd feeling in the room. When the pediatrician came to visit she said he looked ok. The next day I asked the pediatrician about his ears and she said “that’s typical for children with Down syndrome. My heart stopped. It hurt so bad. I could feel my heart breaking. I cried and cried. The pediatrician left the room and came back moments later and asked “Why are you so shocked you were high risk?!!” My husband asked high risk for what? The room was silent. The pediatrician said she needed to review the records again. She came back later with my OB who promised we didn’t have anything to worry about. 
Days later we got an urgent call from the OB the come to her office. She explained that she misread the results and I was high risk. The last bit of hope that I had left my mind and my heart broke all over again.

Answer

We found out our son had Down syndrome 9 weeks post birth. My genetic blood screening during pregnancy was negative, ultrasounds were clear with only a small spot in the heart. But the doctors didn’t even tell me since my screening was negative. At birth, it seems there were some concerns by the hospital staff - but they were not discussed with me or my husband. Instead, we left the hospital thinking everything was fine except a little jaundice. Four days later at the pediatrician - she says to me - I know they discussed a concern about Down syndrome at the hospital....we were shocked. And so was she as the hospital doctor had told her that a nurse spoke to mom and that mom got very upset. But it wasn’t me that they spoke to. At that time - the only indicator was the eyes which were not strongly showing DS. After This started us on an 8 week journey or over analyzing our precious babe wondering if it could be true or if this torture was all for nothing. After a botched newborn screening - he was also found to be hypothyroid and we discovered the singular crease in his left hand. So we went to genetics which took 5 weeks to get into and then waited another 10 days for results. The results showed that our little guy had full DS caused by a rare isochromosome 21. But thankfully and prayerfully - he has no medical issues outside the thyroid which is being treated. His muscle tone is amazing and he’s eating and gaining weight like a champ. I only wish that we didn’t lose so much time waiting for answers. By the time we got the diagnosis, I have had 3 weeks until I return to work. I so wish that my genetic screen showed some risk - then I could have prepared my heart and mind for the possibility. And we would have been able to cherish more of this time together.

How did you find out your LO has Down syndrome?

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