balanced translocation

I have a balanced translocation of two of my chromosomes. Never heard of that before? I hadn’t either, prior to the testing we did following our second miscarriage. Essentially a balanced translocation (BT) means parts of two of my chromosomes (#1 and #5) are in the wrong place.

As you may remember from your high school biology class, a typical human being has 23 sets of chromosomes – one inherited from each parent. Like other people, I have 23 sets of chromosomes, but if you examine mine closely, you’ll see that instead of having two complete #1s and two complete #5s, I have one #1, one #5, and two chromosomes that are partly #1 and partly #5. There is a diagram on the top of this page that helps describe the situation. I’m not sure of the original source of that document, but it is posted on the home page of a Yahoo! group for balanced translocations that I have joined and found to be incredibly helpful. I hope it’s okay that I linked to it here.

A person with a balanced translocation is a truly normal person. I have no defects (so they tell me) because I have all of my genetic material. Nothing is missing; some of it is just in the wrong place. (Birth defects occur when there is too much or too little genetic material.) The only problem people with BTs have is related to fertility. In conception, the chromosomes from the egg join with the chromosomes from the sperm, and the 23 pairs of chromosomes are created in the embryo. However, with me, some of my eggs carry the combined chromosomes, and that means that sometimes either too much or too little of the genetic material is there.

In general, there are four most likely possible outcomes (see the left side of this page ) at any given egg+sperm combination for people with a BT. (Technically, there are more, but they involve a great level of technicality, and I prefer to think of it this way – and so does my genetic counselor).
1. Normal #1 and normal #5
2. Abnormal #1 and abnormal #5
3. Normal #1 and abnormal #5
4. Abnormal #1 and normal #5

Of the possibilities above, #1 and #2 both lead to a normal embryo, because both involve the right amounts of genetic material. In #2, the result would be a baby like me, with a balanced translocation. Possiblities #3 and #4 are the problematic ones, because it means too much or too little material is involved. In #3, for example, there would be too much #1 and not enough #5. If a pregnancy were to result here, it would either end in miscarriage (most likely scenario), or it would result in a child with birth defects.

We met with a genetic counselor shortly after receiving the diagnosis, and she gave us some interesting statistics. She said that while a “normal” couple would have a 10-15% chance of miscarriage, our chance is more like 25-30%. And, while a “normal” couple has a 3% chance of birth defects in any given pregnancy, ours is 3-5%. Apparently genetics experts keep data on these things, and she could only find one documented case of a child with my affected parts of these chromosomes surviving to birth. This means that the odds are overwhelmingly in our favor that we would not have a child with birth defects, because a pregnancy with that chromosomal make-up would most likely end in miscarriage. Of course, there is never a guarantee. There is testing that can be done in pregnancy to look for these abnormalities, and we have decided that we would have that testing done when the time comes so that we could be informed and prepared. The statistics we were given are actually better than what we had expected, and we don’t feel like this is an end-all for us. We’ll keep trying, at least for now. We’re not interested in being on this baby-making journey forever. It’s way too difficult and emotionally challenging.

There are high-tech procedures available as well, such as IVF with PGD (preimplantation genetic diagnosis), where the embryos are tested for chromosomal abnormalities prior to implantation. We have decided that this is not the best option for us – for us it is too time consuming, invasive, expensive, and even more emotionally charged, and in the end you still have no guarantee of a child (the odds I have seen are 30-40%). I cannot imagine the devastation we would feel if we spent months going through procedures, daily shots, invasive ultrasounds, minor surgical procedures, and also shelled out $20,000+ if we got another negative pregnancy test. As I said, it’s not for us, but we fully respect those who choose this route. It’s just not for us.

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53 Responses to balanced translocation

  1. Rachel says:

    My husband had a balanced translocation. I’m sorry about your miscarriages. I hope that you have some better luck soon. Just wanted to let you know that there are others out there who know what you’re talking about.

  2. amoureux says:

    I hope things work out for you soon. The patholgy report from our 2nd m/c showed a balanced translocation. By the time we got those results I was already pregnant again. Sadly that pregnancy also ended in m/c.We are waiting for the karotype results on us as well as pathology on baby#3 to see if it was a de novo translocation or not.

  3. Anonymous says:

    Just to let you know my partner has balanced translocation (2;11). I miscarried once and now I am 14 weeks pregnant. We are having amnio next week but so far everything looks ok. I keep thinking about amnio and I am worried, but we need to stay positive!

    • Julia says:

      Hey, not sure if you are still on this webiste as it’s now 2012. My husband has balanced translocation 2;11. We haven’t seen a genetic counsellor yet and would love more information. Do you have any info that would be helpful to us specifically? eg. percentage chances of a healthy pregnancy.

  4. Anonymous says:

    I am pregnant and had an amnio that showed balanced translocation (9,19). My husband and I got tested and turns out that he is a carrier so we are guarded but hopeful that everything will be okay. I hope things work out for you! It is incredibly stressful spending all your time waiting and wondering.

  5. Anonymous says:

    we have our results, and our baby is healthy, carrying balanced translocation like his father. This is like finding out we are pregnant all over again! :) I had amnio on the 27th, so it took just over 2 weeks to get the results.

  6. Anonymous says:

    My husband has translocation and we had our daughter who is healthy and fine. I hope everything works out for you. I’m on my second pregnancy and I’m waiting to get to the 12 weeks to have the CVS test done. I pray everything will be just as healthy as my first. All the best.

  7. Anonymous says:

    This is the first time I have been on this website. I have just read all your comments, and feel slightly better to know that there are other people out there that are like myself. I have a balanced translocation. I have had 6 miscarriages in the last 2 and a half years. I have found the last couple of years exhausting, it has been a real rollercoster journey, for emotions. I just cant wait for the day we get good news. We have been for a PDG meeting, the waiting list is 12-18 months. Im delighted to read your comments where you have had success stories. Thanks.

  8. Meghan says:

    I am 39 and have a balanced translocation between chromosomes 3 and 14. My brother, who is 37, also has the same translocation. I have had 5 miscarriages and have one healthy 2 1/2 year old son (who ALSO has inherited the exact same translocation) – I had 3 miscarriages before he was born and have had 2 afterwards (so far). It’s a crap shoot, but it is possible to have healthy children with balanced translocations. IVF with PGD isn’t for us either, so we try, try, try again….hoping to give our son a sibling. Good luck to you!

  9. Anonymous says:

    I am a balanced translocation carrier as well. I was very fortunate to have been diagnosed very early in the research – in 1979 when I was pregnant with my first child. The reason I was tested was I have a half-sister who is profoundly retarded. Turns out she has an unbalanced translocation, with extra genetic material.Ultimately I terminated the first pregnancy as the fetus also had the unbalanced translocation. Knowing my half-sister (who even now in her 40s is an infant) and what my father and step-mother went through with having a child like that was so very painful that I could not put myself, my family OR MY CHILD through that. At that time, you had to wait a long time to do the amniocentesis (which was also brand new at the time), and then even longer to get the results. So this was a late-term termination and at that time, not easy to get a doctor to perform it. I was EXTREMELY fortunate to live near New York City, and to have Dr. Thomas Kerenyi be my doctor. He was absolutely wonderful!Remember this was long before IVF was available.The good news, however, is that I was able to get pregnant after that (never had any trouble getting pregnant!) and gave birth to my lovely son in December 1980 (he is now 29 years old).Unfortunately I passed on my balanced translocation to my son, so he and his wife (if he and his GF marry and have kids, which I know he would like to do) are going to have to deal with this issue.I was very lucky in that I did not have any miscarriages, although I know there was a 1/4 chance of that. The odds are 1/4 of any of the options for a female: normal, balanced translocation, too much material, too little material (m/c). Note that I have 4 brothers – two of whom are known carriers, and one brother has passed this to his daughter who terminated a pregnancy with a child who was unbalanced.My fervent hope is that my son will have one or more children who are "normal" and doesn't pass along the translocation mutaion.Thanks for listening.

  10. Anonymous says:

    My husband has a balanced translocation. We lost two pregnancies early, but we are the proud parents of 3 very healthy children. Stay positive.

  11. Anonymous says:

    Has anyone had a sucesssful pregnacey with pgd and ivf?

  12. Kelly says:

    I am so glad this post still generates feedback, so long after I wrote it. Feel free to email me at uninterruptedprosperity (at) gmail (dot) com. I'd be happy to talk with anyone about this issue.

    • safety says:

      Wow so nice to read all your story I live in south Africa I have a balance translation 3/20 I have 2 kids. Don’t know if they have the translations ore not. 1 pregnancy was 100% normal and I did not know about the translation at all. 2 pg I had a amino Dr expect down syndrome with the amino which confirmed down syndrome and also the translation 3/20. We had a medication termination do to the fact that our son had major heart defects and other normality. 3 and 4 pg was miscarriages before 9 weeks and out 5 pg we had a boy also with no problems. Don’t know if he and his sister is carriers but will have them tested before they have kids one day. We did not do ivf. We are so blessed to have our kids.

  13. AG says:

    My husband has a balanced translocation (14 & 22). We never wanted children but ended up pregnant in 2007. Sadly, our daughter was born 3 months early and died after 3 hrs from "hydrops". We were (and still are) devastated. We had testing done and that is when we discovered the translocation. We still don't know if that was the cause of our daughter's death. We've been trying to conceive for the last 2 years and have only gotten pregnant once and it miscarried very early. I turn 38 this month and am starting to think this is it for us. We saw a Fertility Spec and he said that with IVF, we only have a 10-15% chance of having a living child. Adoption is a possibility but still difficult in our minds and hearts. I'm happy to find all these others who are in similar circumstances. I'd love to be part of a support group for this. Please let me know if you know of any. Thanks.

  14. Kelly says:

    Also – In case people don't see my later post on the subject, there is a Yahoo group that has been very helpful. Just search for balanced translocation on the Yahoo group home page. It's full of people dealing with BTs, so it's a helpful, supportive group.

  15. Anonymous says:

    Those who have healthy babies-how long did it take you-1-2-3 years?? I have had three miscarriages already.

    • Jodi says:

      I had 2 miscarriages then a healthy pregnancy, then tried again 2 years later and had a healthy pregnancy. Best of luck to you!

  16. Kelly says:

    Anonymous – I don't think anyone who has posted here is coming back to check further comments. (At least I can't tell, since most of the comments are anonymous and I don't know who is who.) Please look into joining the Yahoo group I mentioned in the previous comment. You will get lots of great, supportive information there. Unfortunately I can't answer your question, as I've had only 3 pregnancies in 4.5 years and all ended in m/c. But that is not the case for everyone with a BT. Good luck to you!

  17. Anonymous says:

    I read all of the comments above and want to let you know my husband has a balanced translocation. We had 3 perfectly healthy children without a problem. We tried for a fourth and had 3 miscarriages. We were shocked to find out about his translocation, but feel so blessed to have our 3 children. Just want to give hope to others!

    • Jodi says:

      Love your post!

      • Sofìa says:

        Thank you for sharing your positive experience. My husband have the same problem. We don`t have any childrens and after 4 miscarriages we will do a fiv with PGD in a few months. Sofìa

      • Livi says:

        Hello, We found out early his year that my husband had a BT. We have a healthy perfect 7 year old son & would love more. I’ve had miscarriages and to rounds of IVF (both cycles ended in miscarriages 7 weeks & a chemical) before we knew about the BT. We are now trying naturally for another. If we can do it once we can do it again. I would love 3 children.

  18. JEN says:

    Hi Kelly thanks for writing back-i wrote 2-4.I am now tring accupuncture-to see if this may work!I have been twice.Will let you know if I have ant luck!

  19. Anonymous says:

    To answer one anonymous – yes, IVF w. PGD here, resulted in baby boy, first try with IVF clinic at Cornell, NYC (CRMI). I am a balanced translocation carrier.

  20. Jen says:

    How were all the shots for the ivf?

  21. barb h says:

    My daughter (now 26 ) discovered that she has BT when her daughter was diagnosed at 1 yr old due to her failure to thrive and developmental delays. My daughter was 3 months preg. at her diagnosis and delivered another daughter who was also found to have same BT. I would like to know if anyone with Balanced recipical translocation of chromosomes 1 and 5 can help us out with other problems i.e. dental, GI symptoms, seizures. Would appreciate any info

  22. Kelly says:

    Hi, Barb – Try the yahoo group I mentioned above in the comments. I've found one other person there with a 1, 5 BT (which is what I have) but neither of us have a Robertsonian BT. But there are definitely people on the list with a Robertsonian BT and also those who are parents to children with special needs due to UBTs. Good luck to you and your daughter and grandchildren.

  23. Anonymous says:

    hi,kelly- i also have balance translocation between 1 and 5 and i had two early miscarrieges and two terminations in 20 weeks babies were having unbalanced translocations all this haapen in 1.5 year time…lost all my hopes had my second termination procedure done 4 days ago .all the best to all of you may god bless all of you with healthy babies

  24. Anonymous says:

    Hey Kelly, glad to have found your blog. When I was pregnant the first time, it was the same time that my sis-in-law found out that she had a balanced translocation. By that time I was already five months pregnant and I just knew that the baby would be fine. But my husband did the testing with everyone else in the family. Turns out he is a carrier as well, we went to genetic counseling and that counselor was quite pushy with amnio and further testing and actually downright scary. But I just knew that my little babe was fine and so I decided to not do anything and stress myself out. I carried to term and gave birth to a healthy baby boy who is now 10 years. Two years after his birth we tried again, I miscarried at 8 weeks and knew before that the baby was not right (hard to describe.) We were devastated. In the meantime, my sis-in-law tried to conceive as well, she had a healthy girl already as well, seems like we get pregnant the first time just fine and then have trouble. She had six miscarriages and then finally stopped trying and she is now in her 40's as well.After the first miscarriage we tried two more times, and two more times I knew from the beginning that the baby was not right. In fact I had to demand the one test that determined if the pregnancy was going well or not. I will explain why and how.I am the type that is very in tune with her body, I knew everytime when I got pregnant, the moment I got pregnant and also when something is right or wrong. Now with the three miscarriages, I knew from the beginning that something was not right, at the beginning there were pregnancy symptoms, but after week 8 they changed and diminished. This is something that doctors can tell you is in your head, but there is a simple blood test that can tell you, if the pregnancy is developing or not. Pregnancy hormones are the indicator, in cases where ultrasound is not much of help or it is too early. Blood is taken in two day-intervals and in normal pregnancies the levels rise steadily, whereas in ones that are not thriving they decrease, which ultimately ends in a miscarriage.We stopped trying after the third miscarriage and literally put all our eggs in one basket lol…we got lucky to have one healthy kiddo. I need to add, that my husband and his sister got the balanced translocation from their father, also a carrier. Now in this case, my mother-in-law had two girls, three years apart, then had two miscarriages, then had my husband and had one miscarriage after him, so three births of which all are carriers. You never know, genetics are complicated and a lot can go wrong even if you don't have a problem.My heart goes out to anyone who had the bad luck to be a carrier and not have one live and healthy pregnancy and birth. It is a lot like doing the "Russian Roulette" thing, but at one point one says, this is enough. Some adopt, others get egg/sperm donors, others come to terms and still find joy in their lives. Children are precious and important, but there are other things in life as well. I know it may seem like "Why me?", "What have I done to deserve this?" The answer is, there is nothing you can do about it, this is rational, fully functioning science and follows the rules.The emotional side is an altogether different aspect. Hope this helps a little, Ramona from Canada

  25. Anonymous says:

    My heart goes out to everyone who has struggled with BT. My husband and both his siblings are carriers of BT of chromosomes 13 and 20. I have an older son from first marriage, lost baby at 22 weeks with encephalocele due to unbalanced translocation in 1998. We did three rounds of IVF/PGD (two at Reproductive Genetics in Chicago, 1 at St. Barnabas) and all failed.We adopted wonderful twin boys from Ukraine in 2001. Found out in Nov. 2001 I was pregnant, was terrified. Miracle is that he is completely unaffected, and after initial scare with respiratory distress syndrome and 8 days in NICU, he is a healthy boy now aged 7.We were impressed with St. Barnabas, not so much with the Chicago folks. Overall, after the PGD/IVF experience, we were completely ready for adoption. Our adoption experience was beautiful, and it continues to bless us. We are also grateful for our post-adoption blessing. I wish anyone reading these posts peace and joy in their circumstances………having added to our family both ways, we found each one amazing.Angela

  26. Anonymous says:

    My husband has a BT. He has 2 children from first marriage. A BT adult daughter and a UBT son, who is moderately developmentally delayed (16 yr old functioning at 4 yr old level.) We don't know if husband inherited it from his parents or if it was de novo. We did IVF/PGD with CCRM in Denver and were blessed with twin girls who are normal and non carrier status. (Actually was pregnant with triplets but miscarried one very early but not due to the BT.) We succeeded on the 1st try. We had a very positive experience. We have custody of the special needs son who is very challenging to say the least. It is possible to have normal children either thru IVF or the normal route or if adoption is chosen. Good luck to all.

  27. Hi Kelly, I just stumbled across your blog while researching balanced translocations. My husband and I are trying to conceive our first child together; I have a BT with chromosomes 4 and 15. I've never had a miscarriage that I am aware of.I have two children from a previous relationship, my 12 year old son and my 3 year old daughter (although she passed away 5 months ago). It wasn't until after my daughter's birth that I was tested and confirmed to have the BT. My daughter had a UBT and had duplication 4p syndrome. She had her struggles, but she was my whole world and the best daughter a mommy could ask for!. (She died in hospital with after a fight with H1N1, nothing to do with her chromosome disorder).I am meeting with our genetic counsellor tomorrow for follow-up regarding my daughter, and to get more information regading my hopefully upcoming pregnancy. Last time I spoke to her, I believe I was told 3% chance for a UBT. It feels different for me going towards a pregnancy now knowing that I carry a BT.

    • Cathy Best says:

      I carry the same balanced translocation, 4;15. My son was born with mental retardation and developmental delays. He is now 30. As you mentioned above, he is my joy and such a blessing. I have a daughter who is 19 and she is fine. I was told that are translocation was carried within our family. Were you told that, too?

  28. kacie says:

    My husband has a balanced translocation and we have suffered 3 miscarriages. We recently had 2 cancelled IVF with PGD attempts, 5 embryos became degenerative, no explanation. we are trying our luck at naturally conceiving and hopefully will get that baby we dream of soon! I was amazed to find this blog with so many going through the same thing!

  29. Chantal says:

    I have a balanced translocation of 14:22 and have a beautiful baby boy who is nine months old. He is a carrier just like me – therefore normal except for his genetic make up. We are now trying for our second baby and with God’s help will be able to have another healthy little one.
    I had a fantastic pregnancy except my 9 week blood tests came back with a higher than normal reading so the Gynae pushed me for an amnio (I was also 37 at the time). The amnio came back with translocation results and then my husband and I had to go for genetic tests. I was very relieved to see that he was normal and that I was the carrier as you do have a certain amount of guilt (human nature I suppose). If it weren’t for all the testing that was done I would have been blissfully unaware that there was anything different with my baby and would not have gone through the mental torture of having to wait firstly from 9 weeks to 16 weeks to have the amnio – then a further two weeks for the amnio results – and then another two weeks to see which of us had the translocation if at all.
    Still I will go through the process again should I be so lucky to fall pregnant with my second one so that we can be prepared either one way or the other.
    Perhaps it is selfish of me to want another baby but I love children and all my life I have said that if I couldn’t have them I would adopt. Thankfully my husband is of the same opinion. Good luck everyone – hang in there.
    I also found that I could not speak with people – even close family members about my concerns as I did not want my parents to know (they are elderly and would blame themselves as I inherited my translocation from one of them) so only my husband knew what I was going through. I am a strong person and have a strong faith to help me but I did have two bad days and probably acted a bit reserved at work. Please rather share with people you can trust as it helps.
    I also had a fear that people would look at my child as being abnormal with his translocation so I have not told very many people after his birth. I don’t want my child to be treated any differently for normal kids.

  30. Jen Schalk says:

    I am desperate to find out info about this! I have balanced translocation and have had multiple miscarriages. Met with genetics counselor who told us not to proceed without Pgd which we an not afford. I am 38 and getting desperate for info! What are the chances if we keep trying?

    • Jodi says:

      Jen, I think your chances are good. How many losses have you had? I agree with Kelly that the good old fashion way should, at some point, be successful.

      Be open to any help with YOU that can help you stay positive and have strength, even through potential additional losses. Things like meditation, counseling, fitness, healthy eating, good sleep, down time, fun time, massage, positive influences…you get the drift.

  31. Kelly says:

    Hi, Jen – If you check out the Yahoo group I mentioned (in the comments above), I think that will be your best shot at finding information from others who have been there/done that. My impression, although it’s been a few years since I’ve followed that group, was that PGD is not the magic answer. Certainly IVF is never a given and the PGD process puts the embryos through a lot before implantation. It always seemed to me that folks had the best luck just sticking at it the old-fashioned way, as long as they could tolerate repeated losses. It seems like most people with BTs can eventually have successful pregnancies; it’s just a matter of how long you can keep trying. I didn’t have that in me, and that’s why we’re adopting. Good luck! This is a burden I wish nobody had to bear.

  32. Jodi says:

    Hello All – I have a BT 6;22. We had 2 miscarriages before testing alerted us to this issue. I was devastated by the loses and the news threw me into a heartbreaking tailspin. It’s literally a gamble to conceive and the anxiety involved was sometimes just too much. And the fear that all control was out of our hands, that even if we did conceive, it didn’t guarantee compatibility with life or could result in high abnormalities. My mind was full of things that could happen so much so that I was almost frozen with fear.
    But we were blessed with our first child (boy, carrier) who is now 6. When he was 2 I thought I should start trying because it could take 10 darn times for a successful pregnancy. And wouldn’t you know it, first try we were blessed with our girl (normal). She’s now 4. I was lucky to have an AMAZING Reproductive Endocrinologist that was my biggest cheerleader. He did everything he could to help. In fact, once I was pregnant, he offered to do ultrasounds whenever I wanted to help calm my nerves. I also met with a geneticist who told me he saw no reason why I wouldn’t be able to have a healthy baby, only a matter of how many times I was willing to try. I wouldn’t wish this abnormality on anyone. It’s amazing that we are even here. That realization, that I am clinically abnormal yet I’m alive and well, is the only thing that gave me strength to keep trying. It’s very odd to be on “this side” of the situation as I never thought I’d be here. Now when I get caught up in the usual throws of parenting, I try my best to remember what miracles my babies are and how blessed I am to have them with me.
    I wish the best for all of you.

  33. Amy Clements says:

    Hi everyone. Our daughter Catherine was born on 12/9/11. She only lived for 6 hrs and 14 mins. They took blood and found out she had 47 Chromosomes instead of the usual 46. They did genetic test and my husband and I did blood work and it turns out I have a Balanced Translocation of chromosome 2 and 14. I have an older son who just turned 9 (2/25). He is fine. We haven’t decided to do bloodwork on him yet to see if he is a carrier or not. We have kepted him in the loop thus far on everything. Doctor thinks we should tell him why he is getting bloodwork done. I also am not only dealing with the loss of Catherine but can’t help to blame myself. The doctor we have been working with has suggested we speak to a genetic counselor. My husband said he would if I wanted to but he doesn’t feel we need to. It took us so long to get pregnant with Catherine. She was such a blessing but the heart break is horrible.

    Any advice, thoughts, prayers are appreciated. I just joined the yahoo group, just waiting for my request to be approved.

  34. Kelly says:

    Hi, Amy – I’m SO sorry to hear about your terrible loss. I cannot even begin to imagine what it feels like. Hopefully the Yahoo group will be helpful to you. I’m out of the baby-making game at the moment, but that group was very supportive and provided great information when I really needed it. A genetic counselor will help you understand your chances of having another healthy pregnancy, if that’s something you are interested in. Good luck to you as you continue to heal from the tragic loss of your daughter.

  35. shocked says:

    Hi there, I have just yesterday discovered that I have a balanced translocation (1:16) – it is really a surreal feeling as we have 2 healthy children (although we are not sure if they are carriers). Our daughter, who is 7, was conveived naturally and our son, who is 4, was our first attempt of IVF. Had we not decided to go back for a third, I would not know all of this. After 2 miscarriages in quick succession our Dr decided to do some genetic bloodwork and there it is! Can’t believe it. I feel so helpless that our son or daughter may have this and stuggle through the same reproductive issues we have.

  36. Shelley says:

    Hi everyone,
    I am 25 years old and just found out in April after my third miscarriage that I have a balanced translocation (9;16). I have seen a genetic counselor and just had my karyotype done and awaiting results just to confirm. I have just experienced my 4th miscarriage. Because of how young I still am, we are going to let nature play its course and hope that we will have a successful pregnancy within the next couple years.

  37. Jen says:

    I found out after my 4th miscarriage in 2010, that I have balanced translocation 3:7. My husband and I do have our “miracle girl” who is almost 4 now (we are not testing her until she chooses to do so herself) but I am now 5 weeks into my 8th pregnancy. Due to the very large breaks (entire arms of the chromosomes), my unbalanced translocations do not make it past the 10th week of gestation.
    It does feel so nice to know that there are others out there going through the same things I am.

  38. Maria says:

    I am very happy to have found this thread. I see it was started a long time ago and the last comment was 5 mos ago. To all, I would love any and all info you want to provide (email is akasha0624@aol.com). In the meantime… I was diagnosed balanced reciprocol translocation of I think 14:21 (I havent looked at the results in a while). My doc seems to think my chances are 75% of miscarrying?? I have always read (and continue to read) 50/50–50% miscarriage/pg loss, 25% normal, 25% healthy pg but baby is a carrier. Anyway…he’d really like us to do IVF+PGD but I too cannot afford it. We are going to try and increase our pg rate with Clomid (ie multiples) and hope one sticks, if not all. I am thrilled to read of so many success stories though I know for many the journey was long (I have thus far had 2 miscarriages myself). PS I joined the yahoo group; there seems to be a wealth of knowledge but unfortunately my posts got very little responses…

  39. Sally says:

    I too am a carrier (BT 4,20). Prior to knowing I was a carrier, I had a beautiful baby boy, who is now 4 – he has not been tested as yet, as I dont really see the need until later in his life, as it only really affects reproduction. I then had an early miscarriage, and then another pregnancy. All scans/tests were fine in the first 20 weeks and then we had the 20 week scan where our world was turned upside down!
    The baby was small for its size which is a huge concern at 20 weeks (its less concerning later in preganacy apparantly). After an animo and karotype testing on my husband and I it was determined that our baby was unbalanced, and that I was a carrier of a BT. I had never heard of BT before, but I’m a self taught expert now! After many consultantations with obstetricians, ultrasound techs, genetic counsellors etc we made the very hard decision to terminate the pregnancy. We we told by all that the baby would most likely die in utero, or if she did live till birth she would have severe disabilities and there are no children on record who have lived past 2 years old with the same affected chromosomes as mine. The odds were well and truly against us!
    It was a horrendous experience, as labour was induced and I had to give birth to my daughter, who was alive and breathing at the time. We named her, held her and spent quality time with her until we were ready to say goodbye. I will never forgot that experience and I have thought about her every day over the last 2 years and will forever.
    I was determined to try again, armed with all the knowledge, stats, facts this time. I didnt want to do IVF/PGD due to the expense and also the invasion and with no guarantees. I am also lucky in that I fall pregnant quickly and easily. Anyway it happened. I was pregnant 5 months after losing our girl. And this time we did very early scans, and many of them. I also chose to do a CVS at 11 weeks, as the risk of miscarriage was much lower than the risk of unbalanced translocation and I didn’t want to get to the 20 week mark again and have to go through the experience again so late in pregnancy. The wait was so emotional. It took 3+ weeks for final findings as they wanted to be extra sure due to our past experiences. And our baby was fine – not even a carrier. And it was a boy! He had my 2 normal chromosomes. Such relief. He is now 9 months old.
    So although there has been much heartache and loss, I am so grateful to have my 2 beautiful heathly boys, but I’ll always remember my little girl and our journey.
    For those out there who are struggling to keep going . . . you can do it! You’ll get there one day and you’ll look at your beautiful, healthy baby and realise it was all worthwhile. x

  40. Mrs Rachel Boyes says:

    My husband is a BT carrier & we fortunately have had two children; a daughter who will be 12 years old in May who is a bright as a button, we have no idea if she is a carrier of the same BT as her dad however our son who is 9 now has the same BT as his father he was very ill as a baby recurrent problems with his chest resulting in sceptic shock at a very early age, he also has had recurrent problems with his hearing, speech and minor physical difficulties. We have only recently found out about the BT our sons doctor has said he has moderate/severe learning difficulties and the age gap between him and his peers will gradually become wider. Also the professionals have said the BT has not caused his learning difficulties etc, we are still waiting to see the genetic councillors about our recent discovery because on my husbands side there are two known generations of his family who have learning/physical disabilites could this be a BT also?

    • Trina says:

      I have no answer for u but I defiantly know how frustrating the situation is . 6 years ago we were told there was a chance our child could have Downs .And after 1 loss 7 years of trying ,adopting 2 special needs children and having 1 of our own blessings who we nearly lost to internal abnormalities it didn’t matter to us but wanted to be prepared for What came with the diagnosis . From the amnio what they discovered instead was he had a BT same as his dad . We were reassured that the baby would be perfectly fine just like his dad . But he’s not . Every mile stone is delayed , speech is still very poor & ongoing various medical issues I have had people’s pity, stares, rude comments and blunt questions. While the only answer I have ever gotten is Global Development Delay . And that is no answer its an umbrella term used that falls under virtually any diagnosis given. We have since adopted another and had two more losses . I can honestly say I know about the desire to have a family when u can’t , sorrow of not holding the child in your arms after carrying and bonding , the joy of receiving the honor of motherhood . And the heart break of not being able to guarantee your children won’t go through the same . But amungst all this I continue to search for an answer and the help needed for him, but I know deep down that although I may never hear he is Autistic or Downs there is something similarly wrong.

  41. Eleanor says:

    Hello,
    My name is Eleanor and I am 17 years old, my father and I both have rare balanced translocations. My aunt has an unblanced one and my other aunt was not affected. My sister does not. My parents didn’t have much trouble having either of us except the that it took longer to conceve. My parents are recommending that I do ivf because my cances for miscarriages and birth defects are high. But what they don’t seem to realize is that ivf costs thousands of dollars, am I supported to start saving now to have kids? Will I have to take out more loans just to have kids? This all just seems so overwhelming.

  42. anonymous says:

    My husband has a balanced translocation with 5&20 and we carried two UNbalanced babies to term, and each have developmental and feeding issues.its a huge challenge, very painful… it is not a guarantee that you will miscarry if the baby is unhealthy. we are doing IVF PGD to inplant only healthy embryos, and will probably have amnio to determine whether its balanced or 100% normal (they still cant differentiate this with PGD)

  43. Naomi says:

    Hi, I just had my third miscarriage(blighted ovum) & finally was able to get testing done on the POC. It came back as BT of 9,10. The results said it was from the maternal side(me) I haven’t received my test results yet so I don’t know if I’m a carrier. Has anyone had this particular one and still have a successful pregnancy?

  44. Rachel says:

    My husband has a balanced translocation (3:7)
    We knew of this anomaly because my husbands brother had an unbalanced translocation and was severely handicapped. He just recently passed away from lymphoma at the age of 18.
    Our first pregnancy went great up until I went to a specialist for the amino. At this meeting it was abundantly clear that something was very wrong with our daughter. This was the worst day of my life. Knowing first hand the kind of life she would have had if she even survived until she was born we elected to terminate the pregnancy. Which was the hardest thing I have ever done, but I do feel was the right choice although I know others might not agree.
    1 year later we were pregnant again. I was terrified! I could not breathe until we got the results of the genetic testing. Thankfully this time our OB was wonderful and told us about CVS which we could do 2-4 weeks earlier in the pregnancy which was huge. It also personally hurt a lot less than the amnio. At this meeting all the ultrasounds looked great but we never let ourselves breathe until the results came in. Our son was born as a healthy (balanced translocation). He is now 8 yrs old and is unbelievably creative & amazing boy! We were so happy to be blessed with the miracle of his life. We wanted to try for another miracle but were very scared. We then had 3 miscarriages about 1 per year and had pretty much resigned to the fact that our son was going to be our only child. Then I got pregnant once more. This pregnancy was different. I was much sicker and much more exhausted. I immediately thought the worst. That it was only a matter of days until I woul have a miscarriage. So it was a pretty big shock at my first ultrasound to find out that we were pregnant with TWINS! I was in a state of utter shock! But now twice as terrified! Imagining all the scenarios. What if they are both unbalanced, what if they are both balanced/normal, and finally oh my God, what if one is healthy but the other isn’t!! This was the longest wait I have ever endured. I was suffering from anxiety and insomnia that was adding to the overwhelming morning sickness. Finally we arrived at our CVS appointment at 12 weeks gestation. First we did the ultrasound of baby A then of baby B. Afterwards he showed me side by side comparisons of each child. Baby B was completely 100% on track in size and all measurements. Baby A on the other hand was not. Particularly when comparing the brains. Baby B had perfectly formed left and right hemisphere and Baby A had no separation at all. Our doctor then told us that it was painfully obvious that one of our babies was balanced and the other was not. He said that due to the severity of the deformity that this was the earliest that he had every diagnosed an abnormality in a child. On the one hand we were devastated and on the other we were elated that one of our babies was seemingly healthy. We did not know what to do but opted to do the CVS and have the official results in hand before we made any decisions. We got the results 2 weeks later. Baby A was a girl with an unbalanced trans and Baby B was a boy with no translocation at all (completely healthy). Only a day after these results I had an ultrasound which determined that baby A had passed away. I was shocked and very worried about the heath of Baby B, but ended up causing no issues at all with the rest of the pregnancy. Her loss was very sad, but I was at peace with what had happened much more than my first daughter. This was out of my hands. This was as it was meant to be. My sweet baby boy was born and hasn’t stopped smiling or making us smile since! I think about my daughters all the time, about what our lives would have been like if they had not had the unbalanced trans and it fills me with sadness. Especially since at every milestone my now 4 yr old son has had, I imagine a curly haired little girl at his side. Still we are so unbelievably blessed. Take heart that if this is something that you have to endure that IT IS possible to have happy and healthy children. It was a hard road, filled with many tears, but when I finally held my babies in my arms it was so clear to me their life is my life. I hug them a little longer and harder as a result, but they are my little miracles after all so how can I not.

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