Hi, new to posting at this site. I have been reading and reading and Ive found alot of good and useful information. I was hoping to find answers about what I am going through right now. I am pregnant with my 4th, he was a surprise. I have 3 normal, healthy children with the last being born 7 years ago. My family and my husbands family do not have any history of any trisomies or any other genetic disorder. My mom, aunts and grandma all had children in their mid to late 30s. I am 38. Not only was this pregnancy a surprise, but how different I get treated now because of my age has been quite the adjustment too. When I was 31 I didnt have to deal with the high risk talk and the advanced maternal age talk and everything I have been associated with because of my age with this pregnancy.
Now for the yucky, confusing, not so fun stuff that Im trying to figure out and find people who can relate. I had the blood test that checks for the risk of Downs and Neural Tube defects, etc. The result of that was "a mild, very mild risk for Downs". Thats how the nurse worded it. From there I was told I could go to a bigger city for my next ultrasound where they specialized in high risk pregnancies. Since I wasnt wanting to do an amnio, I thought this would be a nice compromise. I was scheduled for the Level 2 ultrasound 3 weeks from the day I spoke with the nurse about my blood test results. On the day of ultrasound, hubby and I drove to the bigger city where we did not know anyone and nobody knew us. We did the normal things with the nurse and then waited for the Tech to get us for the ultrasound. She came and the Perinatologist joined us for about 3 minutes and then he left to go do a C-section. He was the whole reason we went up there, but whatever. We were doing the ultrasound and about 5 minutes into it, the tech got silent and had a weird look on her face. Not what I was hoping for. Of course she cant tell us anything and the doctor wasnt in there, so we just suffered in silence. I had shown my hubby things to watch for associated with Downs since thats what the blood test had said there was a risk for. She turned the monitor away from me when she got silent but hubby could still see it and he could see what she was looking at, what she was typing, etc. When she was done, she put us in another room to wait for the doctor to return. It was the longest wait ever. In the room, hubby said she had written club foot and banana sign. Everything looked as it should to him except for the foot. The doctor came in and said right off the bat the tech saw a club foot. He gave us a sheet with the markers of the trisomies and showed us that club foot was a marker for T13 and T18. He says we are going back in so that he can see the ultrasound being done. She shows him the foot, he agrees with club foot. She shows him the banana sign, and he asks for the measurement, he says its within normal limits. She shows him the nose and he doesnt see anything wrong with it. She shows him the eyes, again nothing wrong. He asks to see the hands, they are open and look fine. The heart looks fine. Basically, the only thing that wasnt fine was the one club foot. He says the only way to know 100% is to do an amnio. He says he can do it right now. So we do it. He calls a couple days later with the FISH results. It has 3 in the Trisomy 13 spot. He gives us the gloom talk and tells us to wait for the final results of the amnio which should come tomorrow. He says most likely they match up and we shouldnt expect anything different.
Im trying to get answers for my specific situation........one marker only (one club foot) appearing during the ultrasound, FISH results positive for T13...........should I full expect the amnio final results to be concurrent with the FISH?? Thanks so much in advance.
I'm sorry to hear that you and your husband are experiencing such difficulties in your pregnancy. Ultrasound is able to detect most major physical changes, but it is not very sensitive at detecting chromosomal abnormalities like Down syndrome and other trisomies. Sometimes 'club foot' is just a structural difference, but it can also be associated with trisomy 13.
FISH testing is a method of 'quick screening' on amnio cells. It is done to provide a fast result using a small number of cells to see if trisomy exists. It does not look at all the chromosomes like amniocentesis does, but more often than not, FISH analysis reflects the amnio results either in part or in full. The expectation is that if FISH shows trisomy, usually amniocentsis will either show partial or full trisomy as well. Final amniocentesis results are considered 99.9% accurate in most cases. I hope that helps answer some of your questions.
May God give you and your husband courage, strength, and comfort during this difficult time. My very best wishes to you and your family. ~eureka
Hi again, I wondered if I could ask something else?
This is a bit of a hypothetical question, if you have heard of or read of or known anyone who has been in this situation and their outcome. I am not certain of your personal/professional background with T13, but even your personal opinion is welcome.
I wanted to see if you could share some insight on this statement, if you have known any women whos circumstances fell into this scenario. "While people often associate T13 and T18 with showing gross fetal anomolies on u/s, there have been women whose babies had only one or two markers (1 happened to be "just" club foot)."
What I am wanting to find out is this: What were these womens pregnancys like, did they have full or partial or mosaic, did they carry to term, how long did their babies survive, were more things detected after birth, if nothing more was detected did they ask for more than "comfort care"??
We have had another detailed u/s and they only found the club foot marker as well. They were much nicer to work with and treated us much better than the first place too, just fyi!!
Thanks so much for any more detailed insight you can give me. :)
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