Edwards Syndrome / Trisomy 18



ORIGINAL POST
Posted by the goddess kali 19 yrs ago
My doctor emailed me with results from my latest blood test saying that i have a positive screening for this particular disorder.


Although all else was normal - fetal movement, heartbeat, nuchal translucency etc, according the blood test he says that the risk is 1 in 76.


This means that there are 75 out of 76 chances that the baby may be completely normal and a 1 in 76 chance that the baby is not.


He says that if i want i can have an amniocentesis just to be sure.


Does anyone else have any experience like this?

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COMMENTS
squiggles 19 yrs ago
goddess kali,


i'm sorry but i have not experience of this but i know that if i was in your shoes i would want an amnio. It seems a fairly serious disorder and thus I would not be able to relax through the rest of my pregnancy without knowing what I was letting myself in for. it would just be too stressful not knowing.

i have had an amnio and had it done by a doctor who is very experienced in the procedure, and followed his rest and recovery orders. I was fine and so was my son.

But at the end of the day, it is your decision.

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the goddess kali 19 yrs ago
Thanks Squiggles: I have a bit stressed by the whole thing these past three days. I wish the doctor had told me that he was planning on doing the AFP - i thought he was just doing blood sugar, thyroid level testing etc as i have hypothyroidism.

If i had known i would have not taken the test at all.

Have been looking at the internet about the triple screening - apparently not a very reliable blood test.

I'm going to be asking more detailed questions about what kind of prenatal procedures the doctor wants to follow - i think the triple screening is one thing that i would've given a miss.

I'm posting this link just in case anybody wants to read about other people who have been through this.

http://www.babycenter.com/comments/2920?i=120


Yes i definitely don't look forward to spending the next six months feeling anxious.


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HK2 19 yrs ago
it's a difficult situation to be in, from someone who's been there with a different chromosome issue. we did the amnio, not so bad if you're in experienced hands. consider also what you would do if the results come back positive for the trisomy. this is the harder part.

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the goddess kali 19 yrs ago
It is really tough - but my mind refuses to accept the possibility of a positive test.


Apparently the chances of error are higher for mixed race couples, when the EDD or gestational age of fetus is not accurate etc.

We are a mixed race couple and the EDD has been different on all three scans that i have had so for - all of which makes me not believe the test at all.

I'm going to schedule a detailed u/s and amnio at 17 weeks. i think it's the only way to put my mind at rest.

How about your amnio results - i hope that they came back showing that your baby was well without anything to worry about.

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dizzydog 19 yrs ago
oh no, i feel for you, i don't have the exact details but here is what happened with my sister. when she was pregnant and had her 12 week scan in the UK, the Drs noticed that the fetus had a large swelling in the brain area. she was then referred for more tests and they came back with a high possibility of being T18 positive (she is also a mixed race couple). she had an amnio at week 20 + detailed u/s, and the swelling around the baby's brain area was still there. but miraculously by week 24 the 2 sacs had completely disappeared. my niece was born absolutely healthy and a whopping 4.3kg.


so fingers crossed for you xxx

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the goddess kali 19 yrs ago
Thank you so much dizzydog.


We've decided to go through with the Amnio, just to eliminate any niggling doubt that might plague me for the rest of pregnancy.


Still only in the 15th week, so i'll have to wait another 2 weeks atleast for the scan & amnio and 3 weeks for the results. It's a lesson in patience. I think i'll push it to the back of my mind and get on with work and stuff.

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Wheelymate 19 yrs ago
hang in there, i hope everything turns out ok!

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the goddess kali 19 yrs ago
Thanks wheelymate - i spoke to a doctor friend yesterday and he was very reassuring, saying that a doctor that's very good at doing scans should be able to pick out problems straightaway.



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