Hi i am new here and i was just wondering if I can have some advice please.
I have a healthy beautiful 4 year old daughter. I fell pregnant really easily with her and had a great trouble free pregnancy- but we are now trying for another baby and i have had 3 miscarriages all of which have been lost somewhere between 8 and 9 weeks. We had testing done on my last miscarriage and it was found that that baby had trisomy 13 so they had my husband and I tested to see if we had any genetic problems which would cause this. The tests showed that I have a balanced chromosomal abnormality and this is what was causing the miscarriages. We were told that any future pregnancies may
or may not have the same problem.
I am now pregnant again and so far have gotten to 11 weeks. I had a check up yesterday and the baby was measuring correctly for dates, had a heart rate of 158 and was showing lots of movements. All good news, but i am still worried.
My obstetrician has recommended that I have either a CVS or amnio to make sure the baby doesnt have trisomy 13 but I am way too scared to have either of these done due to the risks of miscarriage. It would just suck to have the test and miscarry because of it- and then find out that the baby was ok. He has said he understands my concerns and said that we will do the NT scan and if we get a low risk assessment with the combined screening it would be reasonable to wait until our 20 week scan to make sure there are no abnormalities but then said that if we get a high risk assessment it is important to do further testing.
If the baby was shown 100% to have trisomy 13 or 18 we would terminate due to the fact these conditions are almost guaranteed to result in death either in utero or soon after birth. My fear however, is miscarrying a perfectly healthy baby because of a test I chose to have done and i am just wondering how accurate a risk assessment is from the 1st trimester combined screening.
I do realise there are many instances where a high risk assessment has been given and the baby has been proven to be healthy, however I wonder if anyone knows how likely it is to have a low risk assessment and then find the baby has chromosomal abnormalities? Apparently trisomy 13 has quite obvious markers anatomically although I am not sure how early these can be detected. If anyone knows anything about these conditions and the 1st trimester screening- any information would be greatly appreciated as I cannot seem to find much information on the net.
Thanks for your help,
Shan
I wish you every best wish and all the strength you need.
The hard part is finding accurate information; I think you need to access real support networks and organisations and not just opinions. It's always difficult to pin doctors down to an opinion on what ifs. The hard part is that many opinions are linked to professional articles in journals and that can make it hard to decipher. So some that I have found briefly and seem useful:
Big hugs to you hun, I understand what you are going through at the moment. Three years ago I had a baby with Trisomy 13 which was detected at my 20wk scan. We had genetic counselling and were told that Trisomy 13 is not a genetic condition and happens to 1 in 10,000 people and it would be very highly unlikely to have another baby with this condition. I fell pregnant a year later and refused to have any testing done, I would wait until my 20wk scan and if anything was picked up there would consider further testing. I also felt like you, did not want to risk anything happen to my baby if it was healthy. It was a very long waiting game. It was the best day when we had our scan and were told our baby was perfectly healthy. I'm not sure on what the risks are with these tests and hopefully someone will be able to give you some figures but for me even the slightest risk of miscarry was too high. I really wish you all the best and pray that you will carry your baby full term and be able to hold a healthy baby at the end. Please feel free to ask any questions you may have.
Thanks diannescruffy- i do have one question- with your first baby who had Trisomy 13- had you had any scans previous to your 20 weeks scan? Like the 12 week NT scan or anything that may have shown indicators for any chromosonal problems?
I am kind of feel like either way i am setting myself up for pain- i am scared to get to the 20 weeks scan and need to possibly delivery a baby i wont keep - but i am equally scared to have testing done. I guess i want the confirmation it will all be ok without having the CVS or Amnio- and i am hoping that at least the First Trimester Screening might give us some indication either way.
I will have the screening done next week- so i will just wait and see how that pans out and decide the next step from there.
When I was pregnant with Emmanuel all I had done were the blood tests no NT scan and the bloods did come back high risk but we chose for no further testing. I know it's a hard decision to make and only you can make it. I really hope everything turns out all ok.
i have just been referred this morning by my ob to have an amneo test in a week. i am measuring 13.5wks and had nt scan and blood test results come back today. my adjusted risk was 1:737 but my nuchal fold was 2.77mm. ob said anything over 3mm was 'aweful' and i am close to that. report said i am low risk but he doesn't believe that. dh is away in perth til friday so i won't tell him til saturday. its a terrible position to be in about having the test and risking miscarring a healthy child. i don't think i would terminate if it was downes.
i am thinking of you and hoping everything goes well for you and bub.
Hi Shan
I know this is an old thread but hoping for an update on how you’re going?
I’m currently in the same position as you, because I also have a balanced translocation involving chromosome 13 I am high risk for Trisomy 13 pregnancies.
I have just passed my 11th week and so far all scans have been perfect, baby is measuring spot on with a strong heart beat. The last scan I had was at 10 ½ weeks and bub was very active.
We are desperately hoping for a good outcome with this pregnancy after a previous loss and hoping you have a good news story to share.
Thanks
Rachel
Need some advice please
Reply With Quote
Bookmarks