----- Original Message -----
From: "Elbie"
> Does anyone know how likely I am to be carrying a trisomy 18 or partial
> trisomy 18 baby if I had a normal level 2 ultrasound at 19 weeks? Did
> anyone on the list have a normal ultrasound around this time and then go
on
> to have a trisomy baby?
Hi Brenda and welcome to the list "family". Like the others I am sorry that
you have had cause to seek us out but hope that we can help you through this
very difficult time.
Unfortunately to answer your first question - there are quite a few of us
here who have had normal looking ultrasounds during the pregnancy. I for one
had about 7 ultrasounds from 20 weeks and nothing at all was ever picked up.
Similarly there are many who have had problems "seen" on ultrasounds that
ended up not being there at birth (or not as bad as suspected).
Unfortunately an ultrasound is only a screening tool, and a karyotype (eg
through an amnio) is the only definitive way to find out for sure. Even then
it will only tell you what your babies genetic makeup incudes - not what
problems may exist.
> I am new to the list, and 20 weeks pregnant.
Congratulations on your pregnancy!!!
>>I had a normal level 2 ultrasound (they looked at the heart, spine,
> face, brain, cord and many other organs in detail) the whole ultrasound
> took over an hour. The baby is actually a little bit big for dates, and
the
> technician said that it was very active (I've felt what I thought were a
> lot of kicks, too.)
These are really good "soft" indicators that things are going well. As you
know though its no guarantee that there aren't problems but its hopeful news
that there are no major structural problems regardless of the babies
karyotype.
> The next day, the karyotype results came back, and I have a balanced
> translocation of chromosones 11 and 18.
I am sorry that you have to deal with all this. It certainly took a long
time for the results to come back though............
>>She gave us the
> option of having an amniocentises, but we are worried about the
miscarriage
> risk factor with an amnio.
The risk factor is fairly low with an amnio (providing you DO rest
afterwards). Many people weigh up the risks and opt for an amnio because the
risk of their being something wrong is greater than he risk of the amnio. On
the other hand some people opt not to find out because they feel that it
will negatively influence treatment after birth. There is no right or wrong
answer on this one at all - its a decision that only you and your husband
can make. Regardless of what you decide we are all here to help in any way
we can.
>>At this point, I don't know if I could go
> through with terminating the pregnancy, if we go for an amnio in the next
> few days I will be 22 or 23 weeks before the results will be back, so I
> think if we go for the amnio it would be for the purposes of (hopefully)
> putting our minds at rest (if results come back normal) or coming to grips
> with the situation and making a birth plan if the news is bad.
Both valid arguements though I will add that even if you get "OK" results
back you will still worry until you hold your baby in your arms.
> The genetisist also said that it is possible that we may wind up with a
> baby that has unbalanced translocation of chromosone 11 - Does anyone know
anything about
> this possiblilty.
The odds of a partial T-11 are as great as a partial T-18. Its less common
but we have had some partial T-11's here on the list in the past. It may pay
to check the archives (go to www.trisomyonline.org and follow the links) I
will check my contacts later and see if I have any email addresses for T-11
folk. (they are still on my old computer) I doubt that I have any specific
11/18 combinations, but probably do have T11's with another chromosome
involved. If you want to contact other partial T-11's with another
chromosome involved contact the C22 group - translocations between 22 and 11
are more common.
> I'm feeling devastated, we were so happy to make it through the first
> trimester after 2 miscarriages and 7 years of trying to conceive. Now this
> bomb has dropped and I feel like a zombie - walking around at work looking
> at my pregnant colleague feeling absolutely numb.
These are all feelings that we can relate to - regardless of the specific
"flavour" of the problem we can all relate to these feelings. I wish that
there was more that I could do - but in the meantime I hope that it helps to
know that you are getting a lot of cyber hugs and special thoughts and
prayers.............. Please let us know how things are going - we are
always hre to listen and help if we can.
"If you weep because the sun has set, your own tears will never let you see
the stars."
- Hindu Proverb -
Keep Looking For Rainbows!!
Karen, Mum to Alex (8 years, T-18 Mosaic)
Building ___ooOOoo__ Rainbows
www.trisomyonline.org
Families Helping Families On-line