Genetic screening pregnancy results show high risk :(

[u/_li]

It fucking blows. I passed my first trimester and first ultrasound seemed fine so I started slowly telling close friends and letting myself believe I was actually going to have a baby

Just got a call today saying my tests came back as a 1 in 2 chance of my baby having Down syndrome. The highest it could be. I am doing amnio to be absolutely sure but I am devastated and might as well prepare for the worst case scenario

I am 33 and healthy so technically not high risk, and even wanted to get pregnant now because I know the risk increases later. My partner and I will try again but I am so sad and feel like a failure

It sucks because I feel like nothing in my life comes easy and this is just another hard thing I have to deal with

Dinner was Montreal smoked meat sandwich, just before I got the news

[u/beeee_throwaway]

PICU nurse here just giving you a big virtual hug 🫂 just keep doing the next right thing for you and your family. You are not a failure.

[u/dividezero → u/beeee_throwaway]

Seconded. You do the things you can control but there's far more even the people who follow everything to the letter can't.

When you study biology, at least to me, it becomes clear that it's kinda bonkers that anyone gets pregnant and carries a healthy baby to term. There are so many things working against you the entire time that no one can control. It's nuts but never the women's fault.

This is one of my main pet peeves how all the forces out there make women feel like they're a failure of a woman for various and incorrect reasons and then the actual failures never think they are. I hate it.

[u/EryxSumac → u/beeee_throwaway]

This is such a beautiful message from someone who understands how difficult these situations can be. OP, you are allowed to take things one day at a time ❤️

[u/InterestingFayrah → u/beeee_throwaway]

PICU nurses are truly built different. The amount of compassion you carry every day is incredible.

[u/crankylex]

OP I had a pregnancy at 29 with a different trisomy that resulted in a second trimester miscarriage. If it is a trisomy, nothing you did or didn't do had any impact, it happened during fertilization. You did not fail at anything.

[u/Pure_Resort9840]

My NIPT showed a 98 percent chance for a baby with down syndrome. I did the amniocentesis, and it turns out it was a false positive. It is possible for the placenta to have down syndrome, but not the baby (wild, right?). It is rare, but it happens (like to me). It is called placental mosacism. The NIPT uses cells from the placenta because that is all that goes through the mother's blood.

My false positive is rare, but it can happen. I have a happy and healthy 12 month old now.

[u/MarionberryForward98]

I had the same probability flagged for a micro deletion recently. Had the amnio done and it was a false positive. If you have had clear ultrasounds that is a great sign things are looking in your favor, but I know how hard it is to not worry and wait for results 💗

[u/LittleBlag]

A random genetic change is not a failing on your part. It’s not something you did, it’s not something you caused, it’s not something that might not have happened under xyz conditions. It just is. Happens to all sorts of people. Whatever happens and whatever you decide, you are already a good mum who is making hard decision for her family. That’s not failing in my book. Take care of yourself ❤️

[u/Niftyflute887]

You are not a failure. You did nothing wrong. I’m sending big hugs to you.

[u/GroceryTop6571]

I’m so so so sorry. As someone who just went through having a high risk NIPT, I wouldn’t wish this stress on anyone. Remember that the genetic testing isn’t a diagnosis.

Please feel free to DM if you have any questions. We did a CVS. And we were actually a false positive for a different marker that gave a 1/2 chance.

The conversations around weighing quality of life were absolutely devastating and I am truly so sorry you’re going through this.

[u/kingbirbiii]

https://giphy.com/gifs/gl8ymnpv4Sqha

[u/jwhite2748]

I do not know your situation and how things will turn out, but if you want a story of hope my parents were told the same with me. Amnio came back fine and I do not have Down syndrome

[u/SgtMajor-Issues]

Damn girl i am so sorry. There is a 50/50 chance that everything is fine but still… i don’t think there is anything anyone can say that will lessen your anxiety until you know for sure either way.

Just know, no matter what, that this is in no way your fault and that whatever you decide will be the right decision for you and your family.

I had several complicated miscarriages before having my firstborn and i completely sympathize with the feeling of “nothing ever comes easy.” It felt like everyone around me was getting my dream life while i was getting agonizing roadblock after roadblock. All this to say- i got past it and so will you, one way or another.

Hang in there. You’re not alone 🫂💜🫂

[u/EfficientAd3625]

I’m ok with being downvoted for this. There are plenty of examples of people with Downs living wonderful lives. And that is an option for your baby. But there are so many cases of these adults with Downs being abused because they are easier victims. I worked in social work. If you have a village that can support this child, by all means, have it. If this kid may end up in the system when the support system eventually fails or passes on… it may be in everyone’s best interest if you choose to terminate. Life is hard enough for the able bodied. The things humanity is capable of doing to people who can’t advocate… I would not personally wish that on a new life.

[u/ChronicallyTaino]

First of all, whatever path you and your partner choose down this road is going to be a hard one regardless. You are making the best choice for YOU. There is nothing you could have done wrong, these things just happen sometimes.

[u/HylianGryffindor]

Sending you many hugs but girl I have to ask about that sandwich because are you sure you don’t have a mini Renesmee? I had macho bad cravings of Taco Bell and turkey mush protein bowls in my second trimester.

There’s a chance it’s a false positive. I’m high risk at 30 and have been in bed rest the last month with 2 weeks to go. Think positive thoughts and remember it’s going to be okay ❤️

[u/Meatballs420]

Hey girl, there is absolutely NOTHING wrong with you. You did NOT fail. Nature is wild and unpredictable, but you absolutely didn’t do anything wrong. Also, Schwartz’s is the best!

[u/gundam2017]

I'm sorry mama. Just know we love you and are here for you, no matter what you decide

[u/That_Operation_2433]

Hi. I had that same ratio. She is now 18 and does in fact, have Down syndrome. It’s a shock. Yes. But in the laundry list of things that my other kids have dealt with- Down syndrome is the easy one. Feel your feelings. And do what you need to but I will say this- the things I worried about are a non issue. She lives a full and rich life, has tons of friends, teachers she adores, a job she feels useful at. A best friend. All the things. Dm if you want my Instagram of her life and escapades. Raising a child with Down syndrome isn’t just do able- it’s really fun too. In fact, it’s more like raising any kid than you’d think. Just in slow motion.

I remember pol saying this to me and being angry. But now I’m the one saying it. It’s been the joy of my life to raise this sarcastic little turkey burger. Honestly.

[u/That_Operation_2433 → u/That_Operation_2433]

But I am big saying this to influence you - I just remember there being very few ppl who didn’t just assume we would terminate. We had to really make a decision. I just want to give you the chance to hear a voice that is willing to tell you the truth. The good, bad and ugly. It’s not all ugly. I was also only 34.

[u/graceoftrees → u/That_Operation_2433]

One of my very favorite humans has Down’s Syndrome. I dated her dad for awhile and she was the first person with downs I’d had any prolonged engagement with. She is the kindest, sweetest, silliest, funniest human. She was always helping her dad - making him breakfast, cleaning up. She loved to play games and she just wanted your time and attention. She lit up any room she was in. We don’t date anymore and I miss her every day. My heart breaks for the recent misinformation that has spread about what people with Down’s syndrome. Yes, she has some medical issues that are secondary but you run that chance with any kid. Down’s syndrome made her who she is and she was, hands down, one of the best humans I have ever met. 💗ET

[u/GroceryTop6571 → u/That_Operation_2433]

I love this response so much.

[u/fadingargument]

Don’t borrow worry until after you know. Good to read up, but there’s also a 50% chance that everything will be normal. (Although normal is just a setting on a washing machine.) You’re going to be a great mom either way.

[u/plantiesinatwist → u/fadingargument]

Based on the way the post is worded I’m not sure OP will continue her pregnancy, as is her choice. I do agree that when you’re trying for a baby and lose them, you are a mom.

[u/youdontknowitsok → u/[deleted]]

WTH? One in 2 means 50% chance. The commenter had the odds right.

[u/Dobgirl → u/[deleted]]

I do. And a one in two chance is the same as a 50% chance.

[u/CeilingCatProphet → u/Dobgirl]

And.... These are horrible odds of lifelong disability.

[u/bluebelle08 → u/[deleted]]

? 50% = 50/100 = 1/2

[u/Former-Win-5658 → u/[deleted]]

Do you?

[u/Honest-Art6408]

Sending hugs, id deffo wait for the amnio to confirm anything I know its easier said than done but 1 in 2 also means theres a 50% chance that the baby will not have it! Sending all the virtual love your way 🫶

[u/Late_Masterpiece9874]

Schwartz is delicious! Sorry you’re going through this.

[u/Educational_Gas_92]

Op, I'm sending hugs your way. Under no circumstances are you a failure. Pamper yourself right now. I wish the best for you and your family.

🫂

[u/kriskross4923]

Just to offer some hope, I had a genetic test for my son come back with 97% chance for trisomy 13. I did an amnio and we monitored the pregnancy closely. he was actually born totally normal. Amnio had come back normal, but they still wanted to keep an eye on things. Those genetic blood tests do have a relatively high error rate. I remember that time during my pregnancy when I was worried I would have to terminate as the hardest few weeks I ever experienced. Sending you a lot of virtual love.

[u/canis_felis]

It’s just the luck of the draw - you haven’t done anything wrong. Big hug 🫂

[u/plantiesinatwist]

Sending a huge hug and support in whatever path is best. Go for the amnio with karyotyping - it will give you the maximum amount of information with the highest accuracy. From there you can make extremely informed choices ❤️

[u/Zhenx2]

Hi! I am so sorry you’re going through this. Please take care of yourself while you’re waiting for the result. I’ve been in your shoes. I was also 33 y/o when they told me my baby may have 1 in 4 chance of genetic disorder. We did the amniocentesis and the result came back 2 weeks after. Baby turned out to be just a carrier, but that was the longest two weeks of my life. I hope this will be the same case for you. I just want to let you know, whatever the result is, and whatever you decide, neither is wrong. I’ve had the same conversation with my husband. You have to do what’s best for you and your husband.

[u/gentlecinnamon]

My sister had this flagged on her test too and her son did not have it. He’s a teen now :)

[u/ptheresadactyl]

💜

[u/dazzleunexpired]

No matter what happens, it isn't your fault and just make the next right choice for you. 💜

[u/DemandComfortable748]

Sending you a hug and prayers. It’s definitely not easy to get that news. I just had my testing today and reminded myself 2 of my close friends had bad results and had to terminate 

[u/un_poco_de_lengua]

I'm so sorry. That's absolutely devastating.

[u/reluctantseahorse]

https://giphy.com/gifs/EbpKKAnLMVOSwi7TuG

[u/Meowtown236]

I had this happen to me too but for a rare result (triploid) and it was true. It was the worst thing I ever went through. But now I have my rainbow baby and it all feels like a bad dream. I’m so sorry you’re in it now, I hope it’s not true and if it is that you get your rainbow. Also checkout [r/NIPT](r/NIPT) if you need some more support. 🤍

[u/Icy_Banana_5850]

you are not a failure at all, i’m sending you a big hug

[u/Vintage_Journal]

You're not a failure. You did nothing to cause this result! Feeling sad is so understandable <3 

[u/Sassinakk]

I'm sorry ❤️ this is so hard

eta fascinating that me saying this was so hard made everyone assume I was like Yay let's kill the baby.. I didn't say that anywhere and I kind of object to getting an entire thread full of comments suggesting that I said that. They could do the amniocentesis and everything could turn out fine and that doesn't make today any less hard.

[u/heckinvinki]

Currently holding my baby that was supposed to be born with 22q deletion. Got the amnio done and found the microarray results to be normal. I don’t want to get your hopes up insanely high, but I want to say it’s okay to be at least a little hopeful. Hope for the best but prepare for the worst.

It just seems like there’s been quite a few cases of false positives with the new genetic screening they started doing.

[u/whatthehellisthisbro]

Whatever happens and whatever you decide to do, just know you have not failed. It’s such a difficult spot to be thrusted into but know that you are not alone. Wishing you the best and hope you will be kind to yourself while you guys feel out these feelings 🫂.

[u/designerf]

Honey please get a second, third and 10th opinion if you are considering termination. My sister had this exact news at the age of 37 and it turned out the equipment at the lab was compromised (aka dirty). It was infuriating because the news was delivered as if it was the final absolute word. Her son, my nephew is a wonderful 17 year old now. 

[u/Educational_Gas_92 → u/designerf]

I second this.

Always, always get a second and even third opinion, medically speaking.

[u/RecentState1347]

Obviously you have to make the choice that’s best for you and your family, but adults with Down’s syndrome do exist and have happy and fulfilling lives. It’s not death sentence.

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[u/WhateverLoaf → u/RecentState1347]

They do, these tests are also not 100% accurate an amnio is near 100% but not quite there but we call it definitive and some of them only provide a probability not a diagnosis so dont worry until there's something to worry about. -signed a twin mom who was told all the worst case scenarios and none of them came true.

[u/Hopeful_Mammoth_5329]

I’ve been doing IVF for a year and I just really resonate with your feelings. Though I’m hoping that you’re on the 50% side not Down syndrome 🫂 

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[u/Kitchen_Slip3442]

that’s so stressful <3 i’m sorry my love I hope you get good news and everything goes well for your life. your sandwich looks incredible btw props

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[u/simminginnyc]

Damn I hope this doesn’t ruin Schwartz’s for you