Post # 1
So my DH and I decided on doing genetic testing… I don’t think I would ever go this route again. It has caused us a lot of stress since day 1. we got my bloodwork back at 13 weeks saying I needed to present myself at the IWK because we had screened positive for downs syndrome. They didn’t tell us at the time, but our risk was at 1/176 at that point. I’m 27 years old, FYI. After the NC ultrasound at 13 weeks, our doctor said everything looked great and that would definitely factor into our results. He was very happy and said the ultrasound looked “normal”. (Hate using that word!) They said they wanted us to follow up at that hospital (3 1/2 hours from our home) since we had our first ulrasound there. This was no big deal to us since teh quality is better here and you seem to get more individualized care. We will ultimately give birth at home.
Today we weren’t expecting bad news at all. We were expecting everything to look good again. Maybe I was just being naive? Anyways the whole ultrasound went exceptionally well, or seemed to. The doctor and tech were both in the room and kept on giggling over the baby’s toes, how he/she was yawning and sucking their thumb. I was over the moon happy. Then things got quiet as they did some measurements. It turns out some arm and leg bones were not measuring the way they should (about a week and a half behind), which is a soft marker for Down’s Syndrome. I wasn’t too alarmed at first as everything else looked good… the baby had a nasal bone, the heart looked good, etc.. and my husband is only 5”5 and his whole mom’s side of the family is on the shorter side so we were joking that the baby would carry on this trait.
The doctor’s voice then got really gentile as she explained that our risk was now 1/43. This made me sick to my stomach imediately as I don’t think I was really expecting that. I don’t think we’ll go ahead with the amnio as we’re not prepared to take that risk and don’t feel like it would change the outcome, so why bother?
We got more bloodwork today and we will find out more results from that next week which will ultimately either improve or increase our odds. We then go back for another ultrasound at 28 weeks and I will have at least one other ultrasound at home (holy moly.. 4 ultrasounds in total?! )
We both know we’ll be good parents no matter what…. but it’s totally easier to say that then to live it. If I’m going to be honest I’m terrified and feeling very down right now. I cried a lot on the way home until I fell asleep.
I guess what I’m looking for are similar experiences that turned out well? I know that in the end I will love this baby no matter what… it just sucks that I will go the rest of my pregnancy not knowing for sure.
photos of my little one… 20 weeks 2 days:
Post # 3
@Mrs.H2B: we are going to do testing as well, but you should really talk to your dr. about the materniT21 test.
It’s supposed to only be available to high risk patients (35 years +, or abnormal screens such as yours)
It’s a non invasive blood test that has a very high accuracy rate in comparision to the tri-screen. Do some google research on it and find out if it’s offered anywhere near you. Keeping you in my thoughts, I’m very nervous about my screenings, but like you, I opted to know.
Post # 4
@tampalove35: this test was brought up today but unfortunately we would have to pay $800.00, which we have decided is not worth it…. would rather save this on other things for baby. Thanks so much for the advice though.
Post # 5
- Wedding: November 2013 - St. Augustine Beach, FL
I’m surprised they aren’t doing an amnio or chorionic villi testing at this point so you can know for sure and prepare. Either way, it may be a good idea to be aware of the resources for parents of children with Down’s for just in case. Hopefully you won’t need any of the information but it’s there if you do. http://www.cdss.ca/services.html
Post # 6
@Mrs.H2B: I know this news can be so upsetting Im sorry. But 1/43 means you have less have a 0.02% chance of downs. That is very low! Sure it is higher than other women but still nothing to worry about yet. My friend had an even greater chance than you according to her doctors and she had a beautiful healthy boy. Hope the blood tests give you some reassurance!
Post # 7
@Mrs.H2B: from the research I’ve done, if you contact sequenom with billing issues because of insurance, they won’t charge you over $240 for the procedure. But they will battle with the insurance company which usually doesn’t make a difference. I’ve also read this on many different baby boards, so if it’s important, I wouldn’t totally rule it out.
Post # 8
One of the February Mamas had a heightened risk of Downs! I can’t remember who, though… But she got genetic testing done, and baby is fine and normal! Just scary measureents.
Post # 9
@beachbride1216: They have given us this option, but we have decided not to because of the risks of miscarriage. Not worth it to us….
Post # 10
@tampalove35: I’m in Canada, so it might be different here? I know that we are covered for a lot of things, but that isn’t one of them.
Post # 11
@Mrs.H2B: Awww, I’m sorry that you had upsetting news. But I agree with a previous poster with the fact that is now .2% chance. I hope everything turns out for you and baby takes after daddy in the height department, but like you said and I have no doubt you both will be wonderful parents regardless of what is to come. I was hesitant about the testing too, I think it adds a lot of unnecessary stress!! I see that you were at the IWK, were so close!!! FX for your blood results coming back with super news.
Post # 12
@Mrs.H2B: If all the Dr. is basing this on is measurements, what if you ovulated later and they got your EDD wrong? I think without testing, there is not that much evidence to be worried. Your baby looks soooo beautiful, and I am sure you would be amazing parents no matter what. HUGS!
Post # 13
Your little one is adorable!! And he or she will be perfect, downs or not. But even so, 1/43 is still a SMALL chance. If you were told your baby had a 42/43 chance of having downs, you’d be absolutely sure that s/he had it, right? So why does 1/43 seem like nothing when you’re hoping for it, and everything when you’re not.
Post # 14
@Mrs.H2B: I dont have a personal experience but I know someone who was told their child had every single marker for downs. He is a happy, healhy, perfectly normal, smarter than a whip developed 5 year old now.
ETA: and if s/he does have downs, i bet s/he will be perfect anyways (sorry didnt read if you knew gender yet or not)
Post # 15
My daughter’s 20 week ultrasound scared the crap out of us, no joke. She also had a “soft marker” for down syndrome, and for a lot of other scary things as well. Instead of having two arteries in her umbilical cord and one vein, she only had one artery and one vein. This could have meant she would have a missing kidney or kidney defects, heart defects, down syndrome, and scariest of all, a higher risk of still birth, among a lot of other things. I was scared to death.
We went for a higher-level ultrasound after that, and then I think by the end of my pregnancy I had probably eight or nine ultrasounds total. They followed her really closely because of the single artery as well as the fact that I developed gestational diabetes, so my placenta could deteriorate early. This plus a weird cord would mean a higher risk of cord accidents and other complications. I was a wreck pretty much from the day of my anatomy scan until the minute my daughter was born. It wasn’t a fun way to spend my pregnancy, but every time I went for another ultrasound, non-stress test, or whatever, I got the slightest bit of relief. Each day my daughter made it in spite of whatever odds were against her with the umbilical cord problems felt like a victory, and it got me through the longest months of my life.
In retrospect, I shouldn’t have worried so much. None of the worrying did me or my daughter any good. Nothing I thought about or did could have changed the outcome. She was born healthy and perfect. They checked her heart and kidneys and she was fine. Now she’s 19 months old and so smart and sweet and just amazing. It’s been the best year and a half of my life having her here. And even if she had down syndrome or other issues, while things would be different and more difficult, I’m sure I could say the same thing, because there’s nothing better than being a mom. <3
Six days old!
Her Christmas picture this year 🙂
Anyway, best of luck with the rest of your pregnancy. Try to enjoy it in spite of your concerns. Odds are in your favor that everything will turn out perfectly! I hope you update us when your baby arrives!
Post # 16
I am very sorry you have received this stressful news 🙁 Not knowing must be very difficult.
I just wanted to give you a link to a blog, called Enjoying the Simple Things! Here is a link to her youngest daughter’s birth story : http://www.kellehampton.com/2010/01/nella-cordelia-birth-story.html
Kelle and her family found out, at birth, that her daughter had Down’s Syndrome. Her birth story is very emotional, and a stunning read. She has also chronicled the challenges (and triumphs!) of living with a child with Down’s syndrome! I hope that her story can provide you with some comfort, as her family is very happy and thriving 🙂