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Carrying baby with (balanced) translocation
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Carrying baby with (balanced) translocation

I am 18 weeks pregnant with my first child. My husband and I conceived naturally the first time we tried. The anatomy scan at 17 weeks was complete and normal. I just found out from my amnio results that the baby has a balanced translocation of chromosomes 19 and 20. We have not done a microarray to find out if there might be a microdeletion or microaddition. Both of us are healthy, and we will be going in for bloodwork to see if either of us have the translocation. Has this specific translocation ever been documented in the medical field? Are there specific abnormalities that might be associated with this translocation? What is the probability that the child will be normal? If one of us has the translocation, is this cause for reassurance? Thanks you.
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Dear Waterdancer,

How very sad that nobody has taken the time to care about sending you an answer to such a question as yours at such an importtant time, while you are still pregnant.

First of all, congratulations.  

I am a mom of a child with a rare chromosome disorder.  And I can tell you that you are receiving a very great blessing. Though you may not realize that now.

I can also tell you that this is not the best website to get your information from.  Not the type of information that you are looking for.

First of all, you should have asked your geneticist or your genetics councelor.    

If your child's rearrangement is RARE then you will have a difficult time finding information.  Maybe even finding another child like yours in the world.

The field of genetics is making imense strides in the past few years.  Many of the older parents gave up looking for diagnoses when none could be found for their children with the old genetic tests. That is one reason that you will not find a lot of older diagnosed individuals with some rearrangements.  But rather, only those younger children who are newly getting diagnosed now.  It does NOT mean that they are not out there somewhere in the world.

Finally, if you are looking for the best website for a rare chromosome disorder,  
go to www.rarechromo.org and email them and ask away.  That is the best website for your needs. They will email you back and help you with your pregnancy questions.  That is where you might find other children like your baby IF such chldren exist.

If I can help you any further feel free to email me.

God bless
Cead

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Hello Waterdancer,

My name is Sandi and I am the community leader for this forum and two others.  I have to apologize in not getting to your question sooner, I have been in hospital but I do know that your question is very important.  One thing I can share with you is knowing how concerned and stressful this is right now for you and your family.  I have a son who was prenatally diagnosed with Trisomy 21, (Down syndrome) and as a result I have made it a point to provide the support for mom's and families who are receiving prenatal diagnoses.  I have been appointed a genetics guide by the genetics department in the hospital in Toronto Canada.  I am also a facilitator (creator) of a group called Play to Learn through the YMCA for Children with special needs and their families in order to provide support and direction.  I hope that I can provide you with the same support and guidance you may be looking for right now.

Congratulations on your pregnancy.  While I know that your amnio results are concerning, I want you to know that your pregnancy is important!  
I am grateful that Cead has provided you with suggestion for you to review, but in defence of MedHelp and it's many communities (including Expert Doctor Forums) I will say that MedHelp is a wonderful site to find support from others who may be able to point you in the right direction.  While Cead may be correct that you will not find the specific Medical information that you are looking for directly form a community forum, Cead has inadvertently proven herself incorrect by being useful to you!  So, I hope that you will not discount the information that people can give you here in this forum.  I will however stress that this is not a replacement for your own medical advice.

There are a number of resources that I can provide to you specifically regarding balanced transolcations.  You may have come accros these in your own reserach.
Some are:  http://en.wikipedia.org/wiki/Chromosomal_translocation
http://ghr.nlm.nih.gov/handbook/illustrations/balancedtranslocation
http://ghr.nlm.nih.gov/glossary=translocation

But indeed, the translocation that you have mentioned is definitely rare in medical literature.  I would definitely advise you to seek a genetics counsellor, (and if you have had the Amniocentesis, you likely do have contact with a genetics specialist).

I invite you to contact me directly, as I have many references and support information that I can pass onto you.  I currently am in the process of publishing my own website to help provide resources and support for genetics diagnosis.  Without knowing your intentions to carry out your pregnancy (which I will tell you is a very personal choice, and NO ONE should comment either way toward you on your choice) I hope that you will contact me so that I can give you the support you might be looking for.  I have been in your shoes, as have many mom's here on MedHelp.  Many can appreciate the position you are in, and also the concern and stress that you are feeling.  Your question about whether your child will be "typical" is hard to answer, and I will be the first one to say, that even when there is literature that discusses to potential for your child to have developmental delays, with the strides and steps in the last 5-10 years, so many things have changed.  My son who if you read the medical literature provided by doctors and text suggest that he would not be able to learn or would be "retarded" - a term that is now no longer used today and is a very negative connotation.  Because of the services provided and the help and love from his family, my son is "typical" and meeting all his milestones.  So, from a reality perspective, I want to be able to share much of this and what can be done regardless of a diagnosis.  This is why I strive to create the services and resources that are out there, so that families receiving prenatal diagnosis can see that in reality - the out come is not necessarily the same as what the medical literature says.

Please contact me directly, I would love to share and provide you with information that I have and otherwise you might not have been able to find.  I hope also you can tell me if you have learned anything else since you last posted your message.

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 Genetics Community Leader;
Children - Special Needs Community Leader;
Down syndrome Community Leader & Ds Group Forum Founder/Moderator
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Thank you to Sandi and Cead for your responses.

My husband and I finally had our meeting with the genetics counselor and a medical geneticist. Unfortunately, as we expected, they were really not able to tell us very much. We have found out that neither of us have the translocation, so no reassurance there. We decided to decline the microarray, since even if it can tell us whether or not there are microdeletions, the docs still are unlikely to know what that will mean for our baby. They did pass us one published study in which 6% of balanced translocations had resulted in some serious congenital problem. So we are trying to hang on to the idea that the other 94% had no obvious problems.

Unfortunately it seems the ability to test is way beyond the ability to know what it means. We wish we had not received this information as it is too uncertain to be of any use. Now we will just be working on putting this piece of information aside and moving on. We need to be able to believe our baby will be healthy and cross the bridge later if she is not.

Thanks.

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Dear Waterdancer,

I completely empathize with you and your husband.  While science is making much progress, the fact remains that there is much that is unexplainable until birth and even then there is much that is still not yet understood.

I have learned that statistics and numbers are only that but there is comfort in knowing that the greater percentage is definitely in your favour.  (But to show the reality of statistics I was the 1:385 in my maternal odds for Down syndrome).   I wanted to share some information that I just posted to another Mom who has a 3 month old with an Unbalanced Translocation.  I do not have much personal experience with translocations but I thought that it might help.

Now keeping in mind that you discovered that neither of you have a translocation, (and that your baby does have a "balanced" translocation, I found this excerpt from a wonderful genetics site I often pass along:

- If a child has the same balanced chromosomal translocation in their cells as their parent, the child is unlikely to be affected by the chromosomal rearrangement
- Chromosomal changes may be inherited from a parent. More commonly, chromosomal changes occur when the egg or sperm cells are forming or during or soon after the baby's conception: these occur for unknown reasons (spontaneous occurrence).
- Reciprocal translocations are nearly always spontaneous, ie. they occur during the formation of the egg or sperm or during or shortly after conception. Therefore neither parent has the chromosomal change. In some cases, however, one parent may have a balanced reciprocal translocation themselves that causes no problems for themselves but may cause problems in pregnancy or with the baby's chromosomal make-up.
- The individual with a 'balanced' reciprocal translocation will usually have the correct amount of genetic information for normal development simply rearranged differently from the usual.
- Depending on the information contained in the additional chromosome material, the child may have a range of problems or not be affected at all
- The nature of these consequences depends on the particular chromosomes involved and the size of the translocated material

These are points that I obtained from the entire fact page on Genetics site which I find very informative.  You can read the entire fact sheet here:  http://www.genetics.com.au/factsheet/fs7.asp#para_5  and perhaps take some time to review the entire site.

Again, please let me know if I can be of any other assistance or even just to chat.  I do know that one thing I am grateful for are the friendships I have made during this genetic journey!  Please message me directly at any time.

AND - on your ending note, you are right - if anything does become a factor with your baby's development or health, you will manage because of your care and desire to get the best information.  It is the one thing that I feel and know is the reason why our son is doing as well as he is, daily.  If you have the time (sometime down the road), take a look at my blog.  I know your baby doesn't have Ds but for parents who worry about developmental issues, they can take a look to see what Early Interventions and just plain old fashioned love do for our son.  I think what you as parents do, helps to make all the difference.  There are so many therapies and developmental tools out there to assist you should your child need help with meeting milestones or help with development.  http://welcometoourhouse-myjournal.blogspot.com

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 Genetics Community Leader;
Children - Special Needs Community Leader;
Down syndrome Community Leader & Ds Group Forum Founder/Moderator

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Avatar_m_tn
BT's re the most common genetic ailment we've never heard of! When I was told my son had one I thought it must be a one in a million condition, and was surprised to hear it's more like 1 in 500 or 600. I guess it doesn't get much press because nearly everyone who has one is virtually symptom-free.

I think you have the right attitude to forget about this for now and expect everything to be fine. A 94% chance of having no symptoms? Those are great odds, WAY in your favour.

I know you have declined the microarray but you might find it useful as if you are told there are no microdeletions you'll have even more reason to relax and be reassured.

My son has a ne novo balanced translocation (completely different chromosomes from your baby) and unfortunately he seems to be in the 6% group. I noticed problems very early (3-4 months of age). He's been accepted into a study on balanced translocations which should shed some light. Here was where I found out about it in case you are interested: http://www.chromodisorder.org/CDO/Resources/LatestResearch.aspx
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Avatar_m_tn
Hi waterdancer,

Please let me know what happened after your baby was born.  I am six months pregnant with a baby girl who has a de novo reciprocal balanced translocation of chromosomes 8 and 11 (amnio results.)  After blood testing to establish it was de novo. we were told last week that the microarray results were normal....whatever that means....i am trying to find out more information about the microarray level of detail...but, at the same time, have resolved that i am just going to have to live with this risk of 6%....i would love to know how your story ended...i've read sometimes we don't see the abnormalities till months or years after the baby is born.....alas....

Thanks, Rebekah
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Avatar_m_tn
glamourcow is correct. BT's ARE

However, I would recommend the CGH microarray study.  Firstly, to put your mind at ease. More importantly, because you are at child bearing age and may wish to have more children.

I just noticed that your original post is 2 years old.  So whatever happened?
cead
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Avatar_n_tn
Hi everyone,

I just got a message from someone about this post and then I noticed a couple of you had posted recently. My apologies, I wasn't reading this board anymore.

We had a baby girl nearly 2 years ago and she has been amazing. Knock on wood, she hasn't had any health problems, has been high percentile height and weight, very bright, and is talking up a storm. She is full of energy and keeps us running!

So we've decided this translocation maybe causes exceptional sweetness or language abilities or athleticism. :^)  Who knows....

Thanks for your support and will update if anything changes.



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