trisomy 13

[evthing4reason]

we just found out that our baby will not survive as it has multiple defects that are related to trisomy 13. the dr is 90% leaning towards trisomy 13. There is another possiblilty as my placenta is also abnormal. He said trisomy 13 is inherited but I have read conflicting info saying that most of the time it is not inherited and just a fluke and was wonderng what is the correct answer (he said the second possiblity is not inherited)

[mommyboo]

My heart goes out to you. I was told 2 weeks ago that my baby may have Trisomy 13 as well. The amnio came back negative last week, but we're still faced with the issue of a clenched/flexed right wrist/hand. No one can tell us if it's indicative of something genetic or neurological - or if it's an isolated event that could be fixed with physical therapy or surgery - or if he's actually fine. So we're in the 2nd/3rd opinion stages at this point.

Perhaps you've already received the information you're looking for, but both the "fluke" type and inherited type exist for Trisimoy 13. From the little I know, the inherited type is known as a translocation, which is when pieces of chromosomes break off and reattach elsewhere.

There are also 2 "fluke" types - one where the extra chromosome affects all cells and one where some cells are normal, others abnormal. This latter type is also known as "mosaicism". When I was first tested, they did a rapid test (known as FISH) that provided preliminary results in 2-3 days. That came out negative for Trisomy 13, but can't provide anything definitive for the mosaicism type. We had to wait for the amnio, where they can test the baby's skin cells that have sloughed off and are floating around in the amnio fluid.

My doctor and genetics counselor said that most of the time it's a fluke and a couple can go on to have perfectly heatlhy children.

I wish you the very best!!

[evthing4reason]

Thanks for the info and for sharing your story. The amnio came back that it was trisomy 13 and we opted to interupt the preganacy and i delivered 2 weeks ago at 19 weeks. My baby had many many very severe defects so are only other option was to wait for the baby to die which could've taken 2 weeks or 2 months but would never have made it to term
We are still waiting for the full results of the amnio to tell us it it was the inheirted type or not. I am adopted and have always feared that i wouldn't be able to have children due to something in my genetic so I wn't be able to rest until i get the final results back.
I actually ended up back in the hospital this week with a uterine infection which they thought i would have a d&c for but luckily didn't have to and am out after 2 days but now i have to go back to the hospital every 8 hours for 5 more days, but it's better then being stuck on the materinty floor.

[ja96]

Hey,
I know someone who goes to our church who has a little girl that was like that she couldnt walk or use her hand.  The spent time with working on therapy and a couple of years later she can walk, talk, and use her hand.  Just depend on god and everything will be okay.

[eureka254]

Sorry to hear about your loss. Keep strong.
Mommyboo gives good info!  I work for an OB/geneticist, and I can tell you:  plenty of women have healthy pregnancies and babies AFTER a pregnancy with Trisomy 13.  
Trisomy 13 is a genetic problem, but usually it's not 'inherited'.  Most of the time it is a 'fluke', a chromosomal mutation that is nothing a parent did nor contributed to. There is a minority of cases where it is 'inherited', when a parent has a slight change in their chromosomes (translocation) that can cause Trisomy 13 in pregnancy.  A simple blood test called 'peripheral blood karyotype' can tell you whether your not you have a translocation.  And even if you did, it doesn't mean you can't have normal healthy babies!
You might want to seek the advice of a genetic counselor or medical geneticist if your OB cannot answer all your questions.  Have faith!

[evthing4reason]

I won't be able to rest easy until we get the final results back, like I mentioned before I am adopted and have always been scared I wouldn't be able to have children for a genetic reason. When we go back to the specialist he will set up appointments for gentic counseling and wants me to come to a preconception clinic. I have already decided that I will be having my next baby at that hospital as they specialize in women's care rather then my local hospital. It's been rough, especially with the set back of the infection...I'm totally exhausted from going to the hospital 3 times a day..but tonight is my last time, then to my OB/GYN on friday and once i get a clean bill of health we're booking a trip to the domincan for some R&R!

[eureka254]

I hope your final results give you some peace.  Enjoy that R&R... your body and your mind both need it!  

[evthing4reason]

Just found out today that it was just a FLUKE!!!!!and the only precautions we have to take with our next pregnancy is stuff i want done anyways---early bloodwork (my Dr hadn't done ANY not 1 bloodtest and i waa 17weeks the last time i say her) and i get to go for an ultra-high-tec ultrasound at 12 weeks (normally you don't get an u/s here until you are 20 weeks). I'm sooooo happy right now

[eureka254]

So pleased you got good news!  I'm guessing from your post that you and your husband have normal blood karyotypes?!?  (Although, I have to say that I'm a bit concerned that you were in your 2nd trimester before ANY bloodwork was done?...)

As for the 'ultra-high-tec' ultrasound... screening can be done as early as 11 weeks (often called first-trimester-screening or nuchal translucency screening), but you might also want to read up on an option called 'chorionic villus sampling' (CVS for short), which can detect chromosomal abnormalities as early as 10-1/2 weeks.  You should ask your doctor about both these options before your next pregnancy, so that you will be well-prepared!