Trisomy 18 (Update)

Hi,

Pleasee share the information or anything you know regarding Trisomy 18, What is it?

My bloodwork just came back with a 1-24 chance of the baby having this, What is it and what is going to be involved? I am going for an early sono next week to see if there are any other red flags....Will I need an amnio also. Im so scared.

I have an amnio scheduled for tomorrow at 3pm.

Message edited 2/22/2012 11:13:02 PM.

Re: Trisomy 18

I had a test come back positive for Trisomy 18, but 1 in 10.

I decided against an amnio, but went for the sono to see if the baby had clubbed feet, marks on the heart etc. Everything came back perfectly fine.

I wish you all the best and hope your little one is perfectly fine!!!

Re: Trisomy 18

No experience but I hope everything is okay.

Re: Trisomy 18

no experience but pray everything is ok with your lo

Re: Trisomy 18

I have no advice but am praying for your LO

Re: Trisomy 18

unfortunatly, i have no advice, but i am praying for your LO

Re: Trisomy 18

You'll need an amnio to rule it out definitively. But this is a condition that they should be able to see via sonogram for the most part. Most Trisomy 18 babies will show soft markers.

The sonogram itself is targeted to look specifically for the soft markers associated with chromosomal anomalies.

For Trisomy 18 these markers are clenched hands, choroid plexus cysts, rocker bottom feet, delayed growth, heart defects such as VSD, ASD, and coarctation, kidney abnormalities, omphalocele, esophageal atresia, and polyhydramnios (excess amniotic fluid).

Trisomy 18 or Edwards Syndrome, sadly, does not have a good outcome. Most babies die in utero or shortly after birth. Those that do survive rarely make it to their first birthday. Those that live beyond that are considered very very lucky.

Rick Santorum's youngest daughter is 3 years old and has Trisomy 18.

Re: Trisomy 18

Please keep in mind that the b/w is only a screening based upon information entered into a computer. For both my pregnancies I had b/w results come back that were not numbers I wanted to hear. I did opt for the amnio for both pregnancies and everything was fine. Try and stay calm and relax I everything is ok

Re: Trisomy 18

I had a soft marker for a chromosomal abnormality at my 12 week NT scan. I didn't want to wait for the amnio, so I chose to have the CVS testing done at 12 weeks. Everything came back fine with the chromosomes, but we continued to have extensive sonos and echocardiograms to rule out other abnormalities and heart defects.

for you! Good Luck!

Re: Trisomy 18 (Update)

Thank you everyone, I updated on my original post that the amnio is scheduled for tomorrow at 3pm. Once I get over the nerves part of the needle going in I will be okay.

Re: Trisomy 18 (Update)

I know how stressful this is, I had a screening test come back elevated too. I hope everything turns out alright.

Re: Trisomy 18 (Update)

My 12 week blood work came back within the normal range, but my risk nearly doubled for Trisomy 13/18 based on the blood work. My risk went back down after the 16 week blood work, but I had other results above the normal cutoff range. I chose to wait until my Level II before deciding on whether to have an amnio. Everything looked great at the Level II so I decided against any invasive testing. The perinatologist told me that in many cases Trisomy 18 can be detected at the NT scan and is almost always detected at the Level II because of the number of abnormalities that are typically seen. I hope everything turns out okay. I know how tough it is to wait for results.