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Abnormal Nuchal Translucency

ageeze18ageeze18 member
in High-Risk Pregnancy
I am 11 weeks today. I went in for my appointment and the sonogram showed thickened Nuchal Translucency measuring 5.4. I am so worried because the doctor is already talking about termination as an option. I did the bloodwork testing right after and they’re referring me to a high risk doctor. Has anyone else dealt with this? What can I expect? 
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Re: Abnormal Nuchal Translucency

  • absingleton04absingleton04 member
    Hello. My heart goes out to you. I’m experiencing this as well. High NT at 12 weeks and some other anomalies on the ultrasound. My specialist recommended the NIPT blood test which I got. Came back positive for high risk so now we are going to do the amniocentesis. I’m surprised to hear that they talked about termination before any of the additional testing. Hang in there, I’m here with you. 
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  • ageeze18ageeze18 member
    edited April 2024
    Thank you for replying. I am sorry to hear you’re having to go through this as well. I too had the NIPT blood test and am now waiting for the results. My ob seemed very inconsiderate to right away bring up termination. I cried the whole way home. I don’t know how to even explain this to my 6 year old who’s so excited to have a sibling. It’s so heartbreaking. I am hoping the high risk doctor offers a little more insight. Is the amniocentesis a test used to narrow down which abnormality? How are you taking all this? It has been so hard and I am just starting this process. 
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  • absingleton04absingleton04 member
    Hi there! Now I realize you are in a similar situation (from my post) sorry for the confusion. My genetic counselor will be doing the amniocentesis. To my understanding, it captures baby skin cells, so yes, it’ll narrow down the abnormality if any. Praying for the both of us this is not the case. Have you had any other ultrasound markers other than thickened NT? I had a few others including 4.4mm NT that then went to 3.1mm about a week later. So confused. :( 
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  • ageeze18ageeze18 member
    Hello! So far all I’ve gotten was the thickened NT of 5.4mm. Still waiting on the NIPT results and to see a high risk doctor for a second opinion. I assume next for me would be the amnio or cvs whatever they recommend. I too am filled with fear. This has been the worst experience ever and I don’t think I even want to try for more kids after. This is my second pregnancy. I am finding it even harder to deal with because my son is so excited to be a big brother. It breaks my heart when he sees others babies and says is that how our baby is going to be. So far all I can tell him is that the baby may be very sick. I don’t know how else to explain it to a 6 year old. Please keep me updated with your situation. It has been a blessing having someone going through this to discuss this. I will be praying for good outcomes for you! Stay strong! 
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  • absingleton04absingleton04 member
    Hi! I completely understand as this is my first pregnancy but I have 2 amazing step kiddos, 9 and 11 so I can’t imagine crushing them with any bad news. Waiting another almost 2 weeks has been tough on me especially mentally. I’ve broken down every single day since the NiPT results came back 65% probability baby has Trisomy 13. I had an appointment today (not with specialist just regular check up) and baby’s heart rate continues to be high. 14 weeks today. Thank you for being in here with me. Continue to pray and keep faith. It’s all we can do. Hopeful your NIPT results are negative!!! 
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  • ageeze18ageeze18 member
    Oh man I’m so sorry to hear about your results. This whole situation is mentally exhausting. I too break down every night. And the waiting sucks! I still haven’t gotten an appointment with the high risk doctor, apparently they have to call me. So I feel so in dark about what I could expect. I will continue to pray for you and your family. 
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  • absingleton04absingleton04 member
    Hi there! How have you been hanging in there? I’m finally getting ready for my 15 week ultrasound and possible amniocentesis this week. Praying for good news. You’re in my thoughts and prayers too!! Any more news? Hopeful your NIPT results came back all negative. Take care. 
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  • ageeze18ageeze18 member
    Hello! Thank you for reaching out again! Hopefully they do give you the test this week so you can get some more answers. Please keep me updated. I’ll be praying for you and your family! As for me I’ve been okay they called with NIPT results and said it came back low risk. However I spoke to a nurse who had no clue about the thickened NT and couldn’t provide any additional information on how it’s affected. So I’m still waiting to see the high risk doctor to get more information. I have the ultrasound scheduled for Wednesday and I’m not sure when I’ll have the consultation with the actual doctor. I’m still very worried as the baby’s NT was 5.4 with edema around its belly at 11 weeks. I do hope it went down but the number was so high. It’ll be 10 days between the ultrasounds so I’m still so worried they’ll find something else causing the high NT and edema. 
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  • ageeze18ageeze18 member
    Hello! How are you holding up? Any updates on your amniocentesis? I have a regular ob visit Monday. I had an ultrasound a week ago. It went well as the baby’s NT went down and dr didn’t see anything out of the ordinary. I go back in 3 weeks to check again. Still praying for you and your family! Take care! 
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  • k-w-k-w- member
    Sorry you are going through this, try and remain positive. At our dating ultrasound at 10w4d we were diagnosed with a 5mm septated cystic hygroma on the neck/thoracic area, which has a 50-70% of being caused from a chromosome condition such as trisomy’s etc. I did nipt which came back low risk and revealed we’re having a boy, all my other testing showed nothing, at my 14 and 4 detailed ultrasound with maternal fetal medicine the hygroma had resolved we now have just some minor NT in one area! Though there is still a small chance it was caused by a microdeletion rather than an extra chromosome it was good news. I have opted to hold off on amniocentesis at this time and head back April 10 for another detailed ultrasound with MFM. I was told there was only a 7% chance of resolution and a live birth but here we are trucking along. Medicine is not exact and sometimes things happen, my cousins son had an increased NT all testing also came back normal and we was born perfectly healthy. Stay positive, ask questions and do what you feel is best, do not be pressured! 
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