Miscarriage/Pregnancy Loss

how early can they tell?

I'm pregnant with my first baby and I'm 40. I kept pushing for testing because of my age but I feel like everyone was really casual about it. Now I'm 20 weeks so first test was 1/312 chance of DS had two ultra sounds done for that and was told everything was normal. Those ultra sounds were done at about 15weeks. I had 2 failed NIPT after also with two more ultra sounds. So yesterday I went in for an amino and when the doctor started the ultrasound she told us there might be a problem. After about 10mins of looking she delivered the bad news. The baby has multiple deformities. There are no leg bones. Arm bones are stunted and the hands are deformed. The lower jaw is almost non existent and worst of all the heart and other major organs are deformed. They would require surgery if the child survives however the diagnosis is bleak and the doctors feel that the baby won't make it to third term. So because I also have a kidney disease that could not be treated until after the baby arrived we have decided to terminate the pregnancy. My husband and I are devastated. Lots of crying and rushed decisions over Xmas holidays is not a great feeling. However I'm left wondering about the other ultrasounds. Why was I told they were normal? I feel like someone (or many doctors) didn't do their job! These are some pretty major deformities so how were they missed? Is this malpractice? Should I speak with a lawyer? Remember that the doctor who spotted them wasn't actually looking for them she was just doing the ultrasound because they were about to insert the amino needle. Any advice or experience would be appreciated. I apologize if I'm in the wrong forum but this is a pregnancy loss so I didn't know where else to speak of it.

Re: how early can they tell?

  • I’m so sorry for your loss.  I have no advice for you as I have not experienced anything like that before but wanted to say how sorry I am.  All of my losses were early 
  • mackororimackorori member
    edited December 2018
    @mamadeep I recently had a termination for medical reasons and unfortunately it’s very possible that early scans can look OK and then later ones not. That was not my particular situation (info in my intro in the TTCAL thread), but through the “making sense of it all” process I’ve read the stories of others.  I’m so sorry you are going through this, it’s an incredibly difficult situation and decision that you are having to make. Happy to send you some helpful sites I found or PM me with any questions.
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  • I'm sorry you are going through this; loss is horrible on its own, but worse when you have to make that kind of choice.

    What I can tell you as a person who's had 20 pregnancies with 15 ending in losses, I have had extensive screening of all kinds in a variety  situations, what you are describing is not malpractice.

    I'm assuming they will test your baby when all is said and done (again, I'm so, so sorry), but with your timeframes, I'm not surprised at the results. Generally the first trimester ultrasound has to be done around thirteen weeks or a little before, because it has a bit of a narrow window; they have to measure a tiny bit of fluid in a small location (back of the neck) and at 15  weeks, baby is too big to get that accurately. This last pregnancy for me, LO was too big at 14w2d.

    So, between the NIPT and ultrasound, what can be observed has less information than an amino. Specifically, it can screen for certain chromosomal and trisomy disorders, but not all, and it can't screen for things that are neural tube defects (spina bifida, etc) or most inherited issues (cystic fibrosis, sickle cell anemia, etc). Amnios can detect those and other issues with much better accuracy.

    The difference in size between a 15 week baby and 20 week baby is substantial, and I think it's likely that the defects just couldn't be seen yet.

    I don't envy your position and I wish for you love and healing.
  • Thank you all for being so nice e to me. I was afraid I might be judged more harshly. Your support means a lot. I think I will not have further testing as it is not covered by my insurance and I was told it will be a minimum of 5000 euros. Plus there is no guarantee distrustful uncover anything. As it stands my termination is going to cost me between 1500 and 2200 euros. Plus this testing won't bring back my baby. I was just worried that the doctors didn't do their jobs properly. I look at my past ultrasound pics now and it seems to me obvious that there is a problem with the babies development. Additionally when I first received the pics I sent on to my sister and her and I joked that the baby looked like a Simpson because of the large protruding upper lip. It's painfully apparent now that this appearance is because the bottom jaw is almost completely missing. I am a Canadian expat living in Spain and I have no family here with me. Luckily I have an amazing husband who has remained calm and very supportive although I know this is very painful for him as well. I just wish I knew for certain if this was something that could have been seen earlier or not but I guess in the big picture it will change nothing now and perhaps I am really just searching for someone to blame. 
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