Reciprocal Translocation & pregnancy

Hello, After 2 Miscarriages, my husband was recently identified as a  Balanced Reciprocal Translocation carrier between chromosome 1 and 10 46, xy,(t1,10)(q42.1,q26.3),  My Karyotyping came out normal. Our ob/gyn advised us to go with IVF and PGD , even though the procedure may give us more odds, it is super expensive and we can't afford it so I wanted to find out what our chances are of conceiving a normal child naturally and if we went with the natural route will Pre-natal screening be able to find out the abnormalities in the fetus? Please help any information on this will be greatly appreciated.

[martikadragoon]

Yes, since they're aware of exactly what the problem is they'll know where to look for the baby with genetic testing.
you can have a CVS at around 10w-12w or so or an amnio after 16w they'll also spot markers no the level 2 ultrasound around 16w or so.

here's a site to help you figure out your odds. I do believe your odds w/the translocation are about %25 to have a healthy baby. it may be higher however, you need to speak to the genetic counsellors

http://www.parentingweekly.com/preconception/preconception_information/balanced_translocation.htm

[PT110]

Thank you so much for the response "martikadragoon" as well as the website, it was helpful. I have scheduled an appointment with a Genetic counsler for next week, lets see what he says!

[Dragon1973]

Hi PT110,

I just wanted to add - (What Martikadraoon advised you was totally correct) and I also wanted to additionally pass on this site - about Introduction to Chromosomal Abnormalities:  http://www.wrongdiagnosis.com/genetics/chromosome.htm
And also:  http://www.wrongdiagnosis.com/t/translocation_chromosome_disorders/subtypes.htm
You can certainly look up more information regarding risk, but as Martikadragoon suggested, you need to speak with your Genetic Counsellor who will properly advise you on your potential risk for passing the Translocation on, or any Genetic issue.

It is important to know that only an Amniocentesis or CVS can tell you definitively if the Translocation or any Genetic Abnormality has been indeed passed on.  Other prenatal testing can help advise, but in many cases can only tell you if your odds are increased.  (The possibility of False Negatives or Positives exist with other less invasive Prenatal testing.)  But, coupled together with High Level ultrasounds, the odds can be more realistic.  There are a number of "soft markers" in which technicians and doctors use to assist with potential diagnosis, but I would take the opportunity to ask your Genetics Counsellor what those specific markers would be for your testing, as certain markers represent certain syndromes.  
Also, I would make certain you ask for copies of/from all your testing, so that you can keep track and be prepared for any doctor you visit during your pregnancy as well as the doctors who will be involved in your delivery.  While doctors are supposed to pass your information and results to those involved in your care, it simply doesn't happen as it should.  I learned this with my first and second pregnancies, and I realized that it was extremely beneficial that I had all of my first son's tests and results with me for every doctor visit I had.  (Including his delivery since the entire medical staff did not believe that our son had Down syndrome, when it was already diagnosed via Amniocentesis while I was pregnant, and they literally demanded that I re-test him after birth.)  Please do let us know what happens as you go.

In addition to anything I have mentioned, please keep in mind, that while I or others may have extensive knowledge in many areas, you should always seek professional medical advice from your own physician, as it pertains to medical conditions or concerns.
Good luck, and if you have any other questions that I can help you with, please feel free to message me directly.

Sincerely,
Sandi (Dragon1973)
MedHelp Children - Special Needs Community Leader; Genetics Community Leader;
Down syndrome Community Leader & Ds Group Forum Founder/Moderator

[PT110]

Sandi,

   Thank you so much for taking the time out to respond as well as the support, I feel so lost and confused right now and know that there are people out there who have gone thru similar things and willing to provide advice and support means a lot to me.

    I have my genetic counsler appointment set up for 06/30/2010, but I am not sure what kind of questions I should be asking, atleast now thanks to you I know I should ask them about the available pre-natal tests(soft markers) to detect the abnormality we may pass on and the risks involved in that... hopefully then we can find out what is covered under our insurance and what is not and then take an educated decision of going the Natural route or with ART. Please do let me know if there is anything specific I should be asking the genetic counselor.

You are absolutely right about the tests, during my second pregenancy I went to a doc and she said my HCG levels are not up to mark and I should be bleeding, so I went to another doc and she did an ultra sound, showed me the heart beat told me not to worry and said he would request the test results from the other doc..apparently she never got them, so nothing was done abt it, no repetivie test or anything...then I went for regular check up 4 wks later only to find out there is no heartbeat...was scheduled for a D&C, when we went to the hospital for the procedure they claimed they never received the reports,so my husband had to go to the doc's office to get them. Now I am extremely cautious about that, started to maintain a file of my own.

I will keep this thread updated as I go. Hopefully things will start to fall in place.

I really appreciate all you help and support.

Regards
PT

[Dragon1973]

Hi PT,

You are most welcome.  I am glad we could hep you and like I mentioned, I know how stressful this kind of thing is and can be.  I am glad you take the time to get your copies of all your test results, I had forgotten to mention aside from everything with my first son and having Down syndrome - (And I can't believe I had the exact same situation happen to me that I am about to explain) and passing on info from one doctor to another or lack there of, my last pregnancy, which just ended in fetal demise also (this past 7th June) from having a low fetal heartbeat to loss of heartbeat - I needed the results for my ultrasounds in order to have the D&C done in the hospital, and for some horrible reason, I did not have the copies of the important ultrasounds because my fertility doctor refused to give me them suggesting that he would ensure that he sent them to my family doctor.  Well as you can imagine, that never happened, and when I was at the hospital waiting (the first time of two attempts to get the D&C done) the doctors and nurses told me that if I had been able to provide them with the reports, they would have been able to schedule me right away.  As a result, I had to come back two days later, have an additional ultrasound done, (which I certainly did not need to go through) to prove what we already knew.  Anyway, that is a reinforced lesson learned again for me.  When I read your last post, I thought to myself, we learned the same lesson for one of the hardest things we ever have to go through.  I completely understand how you feel, and I am sorry also for your loss.  I know just what you went through.

As far as things to ask the Geneticist, I am sure you could ask them about the Reproductive In Vitro PGD - I believe you had mentioned that in your original post.  I am not sure if you know what that does, but it is the process of taking the In Vitro process of creating an embryo and then karyotyping and genetically testing that same set of Embryos to ensure that there are no chromosomal issues.  While the efforts of this procedure are worth doing if there are high risks for passing on genetic issues, it is expensive if you don't have medical coverage.  And as far as I know, here in Canada, these particular services are NOT covered by insurances, and certainly not by our Health Care system.  If this is not an option financially (which I know for me it would be difficult to consider by cost alone) I would ask the geneticist if based on your odds if the types of prenatal testing can give you the kinds of odds that will encourage a successful typical pregnancy.  The thing that we all worry about, is even with near perfect testing from Amnio's or CVS's (99%) what will you do if you learn that the Karyotype is abnormal?  This is the million dollar question for everyone.  And no answer is wrong or right.  It is a personal decision that only you and your spouse can make.  With the advancement of diagnostic testing, at least high level ultrasounds and early ultrasounds like Neural Tube Scans (NT Scans) can give you early odds of abnormalities.  But I always stress that even normal results which better your odds for a normal pregnancy can be a false negative.  My son had what you would call a normal NT result (which the report and doctors confirmed), and yet we learned via Amnio that he had Down syndrome.  There are things I suggest to women to assist with odds and prenatal screening, but I also say, after doing all that, you may have to take the results with a grain of salt.  The more invasive testing is the only way you will definitively be able to know what is going on, and when those tests are available for you to do, your pregnancy will be somewhere around 14-18 weeks gestation.  So, again - it's more stress again that you will have to endure.
If you are interested in knowing what the soft-markers are for Down syndrome, I can pass that on to you.  The other soft markers I can get for you too, but your geneticist can better advise what the standard ones for each type of chromosomal abnormality are.  It would certainly be handy to get a list of those so when you are getting ultrasounds done, you know what to stress they look for.  While u/s technicians know to look for usual markers for things like T21 (Ds) T18, T13, the rest are not usually looked for or observed.  So, I did ask for certain things to be looked for when I knew of my sons Dx, and they readily complied and looked.  I know they would not have if I didn't ask.

Thank you for advising you will post your updates.  I think it is extremely important that you do, as there are so many people out there who have similar if not the same concerns.  And your post will help them.

Let me know if I can provide those lists to you, I would be more than happy to.

Sincerely,
Sandi (Dragon1973)
MedHelp Genetics Community Leader;
Children - Special Needs Community Leader;
Down syndrome Community Leader & Ds Group Forum Founder/Moderator

[PT110]

Hey Sandi,

   So sorry about your loss. This is one way I hope no other woman has to learn the lesson of keeping they medical records.

   I would really appreciate if you could send me the list of the soft markers for other Translocations as For us the chromosome 21 is not involved so which apparently is the main chromosome which causes Down syndrome. It never hurts to be prepared. PGD is cost preventive for us at the moment I found out from my doc that one IVF +PGD cycle will cost us about $25,000 and none of it is covered by our insurance ofcourse! so at this point I really want to find out from the genetic counsler what the odds are of us having a healthy child naturally with out going with ART, and will it be just miscarriages or are there possibilities of actually carrier a baby with abnormalities to Term and what are the abnormalities that can be caused by the kind of translocation my husband has and if they can be detected in CVS or Amnio. So ifu have the list of soft markers  then please share so that I can take them with me to the genetic counselor and get the odds for detecting the issues with those tests as well.

I think I am still digesting all the information, it is so hard to even think about what if the Karyotyping comes back positive at 16 wks...so scary... so taking one step at a time and hoping for the best!I will post what the genetic counsler says after I the apt.

please do send me the list.

Regards

[PT110]

Hello All,

So we went to the Genetic Counsler yesterday, She basically explain what BT is, went over our family history and explained the different ways the Gametes(Sperm)  can be seggregated with this translocation. The different ways of segregation are adjacent 1, adjacent 2 and Alternate(Idea for us). So assuming a Gamete with alternate segregation fertilizes the Egg then we have 16.6% chance of having a Normal Baby( no chormosomal problems), 16.6% of having a baby with the same BT as my DH and the rest of M/C's. so basically we have a 32% chance of having a normal healthy child.

When we asked her about the possibility of carrying a child with abnormalities to term she said based on my previous pregnancy history it is very less, I will most likely miscarry but in case the pregnancy does move forward then the chances of having a baby with abnormalities is about 0.5 to 15% .

If we go with the natural route w/o ivf/pgd then she suggested the same tests as "Sandi" and "martikadragoon", CVS  or Amnio along with First trimester NT scan. she did say that she would prefer amnio over CVS as it has more accuracy and a little less risky.

Right now we are so lost and confused, so unsure of what to do, to try naturally and go thru the pain of M/C's again or try for the cost prohibitive,super expensive IVF which still doesn't guarantee anything! This is so difficult......

I am thankful that atleast these forums help us support each other and it is soothing to know I am not all alone in this struggle.

[Dragon1973]

I just caught up on your post tonight.  I am sorry this is turning out to be so scary and stressful for you.  Please do know we are definitely here for you what ever you should decide to do, and will walk with you each step of the way.

I am going to send you via PM the list of markers to watch out for, while it may not have everything, it's some and each time I think of more, I add them to the list.  Sometimes my brain fails me with remembering everything.

Keep me posted as you decide which direction you are going to go.

Sincerely,
Sandi (Dragon1973)
MedHelp Genetics Community Leader;
Children - Special Needs Community Leader;
Down syndrome Community Leader & Ds Group Forum Founder/

My thoughts are with you as I said, every step of the way.

[lozzaj83]

Hi PT110,

Just stumbled across your post when googling BT.

I was diagnosed with a Balanced Reciprical Translocation of 12 and 17 chromosomes, this was after 3 M/C - and a 4th shortly after being diagnosed. As I was told to continue trying to concieve (conceive) naturally - I was finding my monthly flow was, at times very heavy - and this could be down to a m/c before even knowing about it. The furthest along I have been is 6 1/2 weeks, and we are waiting to meet with a genetics councellor next month. They have decided to test my mum and dad as well as I have a sister who is 4 yrs younger than me, and may carry the same BT. What I am wondering now is whether to ask the DR or genetics councellor if I would be accepted for a course of IVF on the British NHS, or whether having a BT means I still have a chance (all be it a small one) of concieving naturally?