Feeling lost looking for anyone to share their stories

Long story

I’m 34 years old, after well over a decade of trying to get pregnant, we finally got pregnant in September via a 5-day embryo transfer. We have been over the moon excited. The doctor suggested, given we didn’t test our embryo, that we do the NIPT screening, and we did. When the results came in, we got a 54/100 result for “risk after test” for Trisomy 21. My appointment with maternal fetal medicine (MFM) was moved up, and shortly after we did the ultrasound, I met with the doctor and the genetic counselor. This was our first early anatomy scan at 13 weeks and 4 days. Given how early we were, they were unable to see much from the ultrasound. The genetic counselor gave us a bunch of information on the amnio vs. CVS test that could determine if our baby had Down syndrome. The doctor went over the “risks” of having a baby with Down syndrome, etc. They said we have the option to terminate the pregnancy based on the NIPT screening or after the amnio. I advised her at this time, we would not be terminating our pregnancy but told them at this time I would schedule it, they assured me I could cancel at any time as I did not want to take the risk given my other risk factors for miscarriage. The genetic counselor explained that the 1/1000 risk is only taking into account the procedure and no other risk factors and left it up to my husband and I. Our Amnio was scheduled for 17 weeks.  We had another early anatomy scan scheduled for 16 weeks to look at our baby.

This visit was very different. The ultrasound technician kept commenting on how my baby would not let her get anything but her feet. I asked if she could try and get her face so we can see if there was a nasal bone, she said she really can’t base on how she was positioned, and she didn’t try either. I figured we just would have to wait until the 20 weeks. When the doctor came in to talk to us, she clearly had confirmation bias, but I listened to her anyway. She said our baby’s femur was measuring small and that indicates down syndrome, and she couldn’t see the presence of a nasal bone which also lets her know the baby has down syndrome. My husband and I both were confused as the tech was unable and unwilling to get an image of her face. I asked her this and she said, “Well I had to scroll through the video, and I could see a little of her face and no nasal bone. She then brought up the amnio and said we will confirm then but based on the NIPT screening and the ultrasound our baby most likely has down syndrome. When I asked if a femur could grow throughout pregnancy she said “no, not in a baby with downs” I advised her we would not be moving forward with the amnio. I had a second consultation with the genetic counselor to discuss risks and ultimately decided I am unwilling to take the risk of stillbirth or miscarriage. For us knowing our baby has down syndrome doesn’t change anything for us. Given my high risks already I don’t want to risk losing my baby. Her response was appalling to say the least. She said “miscarriage is a risk but well you have other embryos right?” I again declined the amnio and she would not let it go. I asked her to cancel the amnio after this appointment. Since my 20 week was set up with her, I also planned to cancel that too.

We left and seen our OB for our visit the next day. She reviewed the notes, and I discussed the conversation with her. She also noted the physician said she was going to cancel but had not, so she cancelled the amnio and I also called MFM to reschedule with another doctor for our 20-week anatomy scan which was then scheduled for 21 weeks and 1 day.

We go into our anatomy scan and the ultrasound is looking good so far. Baby was tucked in but she is moving around kicking and punching. The ultrasound tech kept saying things like she is so active, we just need to get her to move. She told us she looks good but is measuring small and advised she couldn’t say more than that, but we would talk to the doctor next. We understood completely and thanked her.

I have direct quotes because I recorded the conversation, with my pregnancy brain, I didn't want to miss anything for later.

When the doctor came in he said “ I'm going to tell you annoying stuff and I’m going to tell you annoying stuff, not because I want to bother your upset you but because sometimes doctors are annoying” he proceeds to tell us that “We have that blood test right and what we are seeing now is halfway through the pregnancy its almost certain the baby does have down syndrome. The reason I'm saying this is because it looks like there is a heart defect meaning the heart isn’t put together right. The heart is a pump, it’s a machine it has 4 chambers and 4 pipes, blood vessels that stick in and it looks like the way the chambers and the blood vessels are, isn’t quite right. Its like the hot water is on the cold water side kind of thing. So in other words, there is a heart pump kind of weirdness. The size of the baby, human beings we all tend to grow about the same rate and the size is already way smaller and I think my partner mentioned that the last time, its just not growing like its supposed to and we know exactly how big your baby is supposed to be because this is an ivf pregnancy, so we know how hold the baby is and for how old the baby is and for how old the baby is its suppose to be this size and its measuring this size. When i asked how small she was compared to others, he said "off the charts" she is in the 0 percentile. He told us we can do the amnio and test for certainty of the genetic condition, we can terminate because if we do nothing the baby will pass in the womb and if "If it doesn’t pass inside, you after the baby is born the odds aren’t great, because this is not going to be a baby that is born healthy its going to be a baby that will have major life issues" . He told me "none of us know what's going to happen, we don’t predict the future but what were seeing at 21 weeks, is very scary stuff, it’s the worst case scenario type of stuff.” You can terminate the pregnancy. I said I'm not going to do that. He then said “one other thing you should consider. If at some point in the next weeks, or month or 2 months we see your baby critical—like the baby isn’t just small but dying in front of us, if we deliver but like a 26 weaker—there is nothing anyone can do to help that baby survive because it looks like there is a major heart issue going on as well. So we cannot operate on a 6 month baby because its too small. So the chances of coming out of this with a survival is miracle level.

You have an appointment with cardiology and they will be able to tell you everything about the heart. We are suspicious that the heart isn’t put together properly, like it looks like there is a hole in the heart and it looks like one of the big blood vessels has shifted over a little bit. So they are going to give you the full story on the heart. What we are seeing on the baby overall is not growing properly—like off the scale not growing properly. Also the nasal bone thing we talked about before my partner mentioned added up for sure this kids got a genetic problem probably down syndrome and given the way its growing its probably not going to survive. “what you can take home from this is adulting sucks” if you change your mind about termination let us know you have up to 24 weeks—which is just in a couple of weeks. I cannot predict the future but what I see your chances of getting a living child out of this is very very very low.

Also for reference i will include some of the results from the ultrasound

FL: 22.6 mm GA: 16W5d, AC 122.4 mm GA: 17w6d, HC 168.5 mm GA: 19w3d, OFD: 59.7mm and BPD: 44.9 GA: 19w4d. Estimated FW: 202gm. 0.7oz

I included the background information because i feel so hopeless right now. I was wondering if anyone out there had stories of survival or anything (good or bad). I feel my daughter kick and move and hear her heart beat and up until now she seemed fine. my diet is controlled, my blood sugars have been controlled, I have done everything they told me to do. I just want her to be ok. I want her to live and to grow but every doctor pushes the amnio on me or termination like her life doesn't matter to them but it matters to me. Even when i asked about moving forward, like is monitoring her growth different, he said no go to my appointments as usual, but that too seems odd. Like wouldn't you monitor closer if you suspect that she isn't going to survive? Right now I see my doctor every 4 weeks and MFM is suppose to see my in 4 weeks but they said they would call to schedule me next week.

I also want to say that I would like a second opinion outside of this network of doctors. I am not saying they are wrong at all but every conversation seems to go off the NIPT screening like its a diagnostic test and that's all they see. I want someone to do an ultrasound without that NIPT for reference or any of these notes for reference and get an unbiased opinion, but I don't even know if that is an option.

Update

Hello everyone. I first wanted to say thank you to everyone who has commented and shared recommendations/experiences/stories. It has been very helpful and appreciated. I don't have any real update so far other than I did get a referral to another provider in my state. They have scheduled me for the 22nd to do a repeat anatomy scab N (3.5 hours) as my OB has requested me to be seen as soon as possible for a second opinion. I'm very thankful for my OBs support thus far. Baby girl has been moving around, and I'm so thankful that I can feel her. I'm just so worried. I still have my echo scheduled for the 24th. Although I have been a mess, I'm trying to stay strong for my baby girl. I will post more updates either Wednesday after my appointment or Friday after my appointment. Please, please keep us in your thoughts and prayers ❤️ thank you so much for all your support.