[tri-med] Prenatal Ultrasound Question from New Subscriber

Hi Everyone,

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?

I am new to the list, and 20 weeks pregnant. I've had two miscarriages, at
6 weeks and 8 weeks. Back in December, before I knew I was pregnant, my
doctor ordered a karyotyping test for my husband and myself to see if
chromosonal problems were the cause of the repeated miscarriages. Just last
week, 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.)

The next day, the karyotype results came back, and I have a balanced
translocation of chromosones 11 and 18. We went for genetic counselling and
the counsellor said that because chromosone 18 is involved, we have a risk
of having a trisomy 18 baby or partial trisomy 18 baby. She gave us the
option of having an amniocentises, but we are worried about the miscarriage
risk factor with an amnio. 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.

The genetisist also said that it is possible that we may wind up with a
baby that has unbalanced translocation of chromosone 11 - two chromosone
11's plus a bit more (a.k.a. a partial trisomy 11). She couldn't tell us
what sorts of impact that would have on the fetus, and I have not been able
to find anything about this on the net. Does anyone know anything about
this possiblilty.

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.

Thanks in advance for your help,
Brenda


                  Building ___ooOOoo__ Rainbows
                       www.trisomyonline.org
                  Families Helping Families On-line

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