Kenneth F. Trofatter, Jr., MD, PhDPregnancy and Childbirth
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Robertsonian Translocations

Kenneth F. Trofatter, Jr., MD, PhD
One of our readers left the comments/questions below that were worthy of a post for general consumption by interested readers...

Anonymous has left a new comment on your post "Recurrent Early Pregnancy Loss - 3 - Chromosomal C...": Hi-I am 30 years old and have suffered 3 miscarriages. After my third, my Dr. did a karotype and found that I have a Robertsonian translocation between 13 & 14. From what I've learned researching this topic, is that I have a 50-50 shot of producing an egg with the correct number of chromosomes or with the same translocation as I have. Is that assumption correct?Also, is IVF w/PGD our best bet in having a healthy baby? Is it also true that if I have this translocation that chances are one of my parent's have it and/or my sibling's?Thanks so much!! My anxiety has been sky-high ever since I found this out and I can't see a genetic counselor until November 1st. Gina

Gina, all of these are great questions, and as so much in this world of medicine, not as easily answered as you might like…

Under normal (euploid) circumstances, humans have 46 chromosomes in each of the cells that make up their bodies. The complement of 46 chromosomes is composed of 22 pairs of ‘autosomes’ and 1 pair of sex (either XX = female, or XY = male) chromosomes – half of the total complement being inherited from each parent. Individual chromosomes are quite distinct in their appearance and most have long (= p) and short (= q) ‘arms’ that are connected by a structure called the centromere. When cells replicate to make another cell, they first duplicate their chromosomes and centromeres. The centromeres then connect to the structures in the cell that help separate these duplicated chromosomes from each other so that each new cell which results gets exactly the same chromosomal complement that was present in the ‘mother’ cell. This event is called mitosis.

To produce gametes (ova and sperm), a slightly different process is involved. Following duplication of the chromosomes, the overall complement of chromosomes delivered to each gamete must be reduced to half (23) that found in other cells in the body. This is two-step process called meiosis in which the centromeres also play a key role. During meiosis, the individual chromosomes (that were inherited from each of your parents) segregate more or less randomly into the resulting gametes, providing the great variability seen in our offspring.

Five of our chromosomes (13, 14, 15, 21 and 22) have ‘short arms’ that are very small and which contain no essential genetic material. These 5 chromosomes are called acrocentric chromosomes, or ‘acrosomes.’ Acrosomes have a tendency to fuse at the centromeres with other acrosomes, thus producing a ‘single’ larger chromosome made up of the ‘long arms’ of the chromosomes of origin, connected by a single centromere. When this occurs it is known as a ‘Robertsonian translocation.’ If no essential genetic material is lost (or gained) in the process, the individual with such a chromosome is said to have a ‘balanced’ translocation and appears ‘normal’ although they now have only 45, rather than 46, chromosomes in each cell.

Robertsonian translocations can occur between any of the acrosomes although this is not entirely random and the most common forms of these occur between chromosomes 13 and 14 (75%), 14 and 21 (10%), and 21 and 22. Individuals with Robertsonian translocations can have these as the result of a spontaneous event occurring during the meiosis (in either parent) that produced the egg or sperm from which they were made, shortly after conception, or from the inheritance of the same from one of their parents.

Robertsonian translocations are present in approximately 1/1,000 newborns. Individuals with balanced translocations are usually healthy and often unaware of their condition, especially if there is no prior family history that has led to the diagnosis, and often their chromosomal ‘abnormality’ will not be discovered until they have difficulty having children. The problem arises when individuals with Robertsonian translocations try to make gametes. In the case of our reader, who apparently has a balanced 13;14 translocation, the possible gametes she will produce (don’t ask me to explain why at this point) during meiosis may contain:
  • 1) One free copy of chromosome (chr) 13 and one free copy of chr 14.
  • 2) The translocation (chr 13;14) chromosome alone (which contains one copy of chr 13 fused with one copy of chr 14).
  • 3) Chr 13;14 + one free copy of chr 13 (essentially, a gamete with TWO copies of chr 13 rather than just one).
  • 4) One free copy of chr 13 (and NO copy of chr 14).
  • 5) Chr 13;14 + one free copy of chr 14 (TWO copies of chr 14 rather than just one).
  • 6) One free copy of chr 14 (and NO copy of chr 13).

Obviously, 3 through 6 are gametes that have the incorrect number of chromosomes (either too little or too much genetic material). When these gametes get together with the, presumably, ‘normal’ gametes from her partner (which contain one free copy of chromosome 13 and 14), the following possibilities result (in the same order as above):

  • 1) Two free copies of chr 13 + two free copies of chr 14 = NORMAL
  • 2) Chr 13;14 + one free copy of chr 13 + one free copy of chr 14 = translocation ‘carrier’ (just like Mom) with NORMAL TOTAL amount of genetic material
  • 3) Chr 13:14 + TWO free copies (one EXTRA from Mom and one from Dad) of chr 13 + one free copy (from Dad) chr 14 = TRISOMY 13
  • 4) Two free copies chr 13 (one from Mom and one from Dad) + ONE free copy of chr 14 (NONE from Mom and one from Dad) = MONOSOMY 14
  • 5) Chr 13:14 + one free copy of chr 13 (from Dad) + TWO free copies (one EXTRA from Mom and one from Dad) chr 14 = TRISOMY 14
  • 6) ONE free copy chr 13 (NONE from Mom and one from Dad) + two free copies of chr 14 (one from Mom and one from Dad) = MONOSOMY 13.

Therefore, to answer one of our reader’s questions, mathematically, she has only a 2 in 6 (33.3%) chance of having a baby that has the right TOTAL amount of genetic material; one of these will be entirely chromosomally normal and the other will be a translocation ‘carrier’ just like herself. Two-thirds of her babies are at risk for being chromosomally ABNORMAL.

But, as I mentioned at the outset, things are not quite that simple. Indeed, her actual risk for having a baby with a chromosomal abnormality is much lower than this. The monosomy 13 and 14 embryos will not be successful at all and the trisomy 14 embryos also have very little chance of surviving much of the first trimester. Most trisomy 13 embryos will also be lost early in first trimester and the few that survive will have only a small chance of surviving the pregnancy and even a smaller chance of living more than a few hours or days after birth. These babies all have severe congenital malformations and if they manage to survive birth and the neonatal period, profound metabolic disturbances, and mental retardation. Indeed, the ‘selective forces’ are so strong against these chromosomally abnormal conceptuses that at least two-thirds of her pregnancies in which a pregnancy is actually confirmed will be chromosomally normal and the chances of actually DELIVERING a chromosomally abnormal baby are probably only about 1%! The overall risk of miscarriage is about 25%.

With regard to the question of IVF (in vitro fertilization) and PGD (prenatal genetic diagnosis), I have a significant amount of ambivalence. If you have the money to burn, these are certainly options, but they are very expensive procedures. And, if you have no difficulty conceiving and are willing to trust nature to do the right thing, as pointed out above, the risk for actually having a baby with an unbalanced karyotype is so small, that it is often simply waiting until the dice roll correctly to have a normal baby. I know that can be difficult psychologically and at times physically. However, because there is nothing that can be done to correct a translocation, if one can accept the fact there is an increased risk for miscarriages, and that when these occur, it is probably the result of an aneuploid fetus, dealing with the pain of pregnancy loss may be a little bit easier.

There is a lot we have not discussed about Robertsonian translocations in this post, but I would like to make a few recommendations in closing (and we can always use these other issues as an excuse to write another post). First, I would suggest that any couple with a known Robertsonian translocation, consider having combined first trimester screening for aneuploidy performed and seriously consider a chorionic villus sampling if this is 'abnormal'. Secondly, even if this is reassuring, consider having a fetal karyotype done by amniocentesis. Thirdly, once an individual with a Roberstonian translocation has been identified, I think it is important to let other family members (male or female) of reproductive age know so that they can be screened as well. It may save a lot of anguish down the line.

Anyway, Gina, thanks again for your questions. I am wagering right now that your pregnancy quest will be rewarded in the end. Best of luck to you and your husband and thanks for reading!
Dr T

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23 Comments:

  • At Tue Sep 04, 10:30:00 AM 2007, Blogger ThereseAnn said…

    You can view some children who are Living with Trisomy 13 Translocation at
    Living with Trisomy 13
    http://livingwithtrisomy13.org/trisomy-13.htm

     
  • At Wed Sep 05, 01:11:00 PM 2007, Blogger Kenneth F. Trofatter, Jr., MD, PhD said…

    To theresann Sept 4: Thank you for the link. I am sure there are readers who will appreciate it. These children survived against the odds (I know in my 28 years in this business, I have yet to see even one), but it just goes to show that miracles do happen! At our institution we now have formalized a "Fetal Hospice" program for babies with lethal or potentially lethal conditions whose parents choose to carry on with the prgenancy. It's not for everyone, but for those who have participated, they have been very grateful for the support and the 'special time' they have had to spend with their babies both inside the womb and following delivery. Thanks for reading! Dr T

     
  • At Thu Sep 20, 06:57:00 AM 2007, Anonymous Anonymous said…

    This has been incredibly helpful to me. This week I found out myself that I have Robertsonian balanced translocation on the same chromosomes. I have had 2 miscarriages in the last year. My doctor is setting up an appointment with a genetic counselor. I have been a nervous wreck this week frantically researching the subject since I never heard of it before. This page has been the most helpful and has given me the most hope. Thanks.

     
  • At Fri Sep 21, 06:24:00 AM 2007, Blogger Kenneth F. Trofatter, Jr., MD, PhD said…

    To Anonymous Sept 20: No, I am so sorry, but if the Robertsonian translocation really involves the SAME chromosomes, that is not good. There is no way to produce an egg or sperm under those circumstances that has the correct amount of genetic material as can be done when DIFFERENT chromosomes are involved in the translocation. Presuming your partner is chromosomally normal, all of your children will be either trisomies (two from you + 1 from your partner) for that chromosome or monosomies (none from you + one from your partner). The genetic counselor will explain that in more detail. Again, I am so sorry. Dr T

     
  • At Sun Sep 30, 11:49:00 PM 2007, Anonymous Anonymous said…

    Dr. T,
    Thanks for the vast amount of information. I like the other anonymous have a Robertsonian Translocation. I am a 30 y.o. Cauc f/m with a hx of 2 miscarriages. My first U/S had a heartbeat @ 6wks (slow to normal range)& on 8th week no heart beat and no growth. After not passing on my own, I had a D & C and therefor my OB was able to run test. The result was 45xy with Rob.Trans. It was considered a chromosomal fluke and we tried again and miscarried again this time on my own and not able to test. My OB orded a chromasonal analysis on myself & spouse. I did not present to the lab and I conceived a third time. My OB reminded me to get the lab I was avoiding. My husband was normal, but I had the same Rob. Trans. as my first male embryo I lost. I was scared I would miscarry again. Then I googled and never found anything as detailed as your info. I saw a specialist & prayed and hoped for the best. ( I am not super religious either) I hoped nature would prevail and Darwin's Theory plus some faith and a ton of hope. Next dx was a single umbilical artery and more googling. I decided I wanted a baby and a happy baby is what I prayed for because I wasn't sure healthy would be an option. I did not do an amnio as I was not aborting and none of the possibilities were fixable in utero, so my personal choice was to prepare myself for what may be. I was nervous the entire pregnancy and anticipated every specialist visit to be sure the measurements were normal, etc. I now have a happy acid reflux baby... no complaints on my end. She is perfect to me and her chromosome study showed a perfect 46xx. I was googling again as I prepare for future planning of more little ones and the benefits of PGD. I think your information has been extremely helpful. So thank you Dr. Trofatter. And to the first anonymous I wish you much baby dust and hope. Your decision for testing, conception and pregnancy need to be that of your values and whatever you choose it will be right. I do wish I would have been able to be more excited early in pregnancy but I was just holding my breath in case we lost her right up until delivery. I was worried and overly practical. I remember being anxious and it doesn't end. This is the case for all good mommies. You worry from conception, to birth, to graduation and well forever. I hope the best for you.

     
  • At Wed Oct 03, 05:42:00 PM 2007, Blogger Kenneth F. Trofatter, Jr., MD, PhD said…

    To Anonymous Sept 30: Thank you for reading and for sharing your story. I am sure many other readers will appreciate it as much as I did! Best regards. Dr T

     
  • At Tue Nov 06, 05:17:00 PM 2007, Anonymous Anonymous said…

    I also have a robertsonian translocation(14 21) I have had 5 m/c and am currently 12 weeks pg. I just had the screening done for the neuchal folds and the bloodwork. I have never made it this far in a pg and i really appreciated that you said to keep trying. That has been me and my husbands outlook and we are hoping that maybe this is the one that will work out. Every doctor that we have seen has pushed us to do invitro with pgd but it was too expensive. Your blog was the first time i have found real info from a doctor about translocations that wasn't all doom and gloom.
    Thanks

     
  • At Thu Nov 08, 06:26:00 PM 2007, Blogger Kenneth F. Trofatter, Jr., MD, PhD said…

    To Anonymous Nov 6: Thanks for reading and the kind comment. Best of luck on the first trimester screening! Let us know how things turn out. Dr T

     
  • At Wed Dec 05, 09:31:00 AM 2007, Anonymous Anonymous said…

    Dear Dr. T,
    My wife and I have one healthy baby, and now my wife (we) are pregnant again. My wife is 38 - we had an amnio. This revealed a balanced Robertsonian translocation between 13:14 in the fetus (a girl). I understand the issues with fertility. But since it seems that we could, with experts, counsel her on this, I am more worried about OTHER health issues that could arise. Certainly, comparative epidemiologic studies would seem hard to do in this type of situation, but I wonder what is known about the risk of cancer (especially liquid tumors) in people with a balanced Robertsonian translocation between 13:14. Theoretically, isn't there some potential that the chromosome broke within an important gene? Or could some small amount of DNA broken off during the translocation event? Is there retinoblastoma risk (google), or melanoma or any other cancer or non-cancer disease risk in these individuals?

     
  • At Wed Dec 05, 09:31:00 AM 2007, Anonymous Anonymous said…

    Dear Dr. T,
    My wife and I have one healthy baby, and now my wife (we) are pregnant again. My wife is 38 - we had an amnio. This revealed a balanced Robertsonian translocation between 13:14 in the fetus (a girl). I understand the issues with fertility. But since it seems that we could, with experts, counsel her on this, I am more worried about OTHER health issues that could arise. Certainly, comparative epidemiologic studies would seem hard to do in this type of situation, but I wonder what is known about the risk of cancer (especially liquid tumors) in people with a balanced Robertsonian translocation between 13:14. Theoretically, isn't there some potential that the chromosome broke within an important gene? Or could some small amount of DNA broken off during the translocation event? Is there retinoblastoma risk (google), or melanoma or any other cancer or non-cancer disease risk in these individuals?

     
  • At Wed Dec 05, 09:33:00 AM 2007, Blogger GPB said…

    Dear Dr. T,
    My wife and I have one healthy baby, and now my wife (we) are pregnant again. My wife is 38 - we had an amnio. This revealed a balanced Robertsonian translocation between 13:14 in the fetus (a girl). I understand the issues with fertility. But since it seems that we could, with experts, counsel her on this, I am more worried about OTHER health issues that could arise. Certainly, comparative epidemiologic studies would seem hard to do in this type of situation, but I wonder what is known about the risk of cancer (especially liquid tumors) in people with a balanced Robertsonian translocation between 13:14. Theoretically, isn't there some potential that the chromosome broke within an important gene? Or could some small amount of DNA broken off during the translocation event? Is there retinoblastoma risk (google), or melanoma or any other cancer or non-cancer disease risk in these individuals?

     
  • At Thu Dec 06, 05:48:00 PM 2007, Blogger jen said…

    I too just found out that I am a Balanced Robertsonian Translocation Carrier...between 13 & 14. My husband was also tested and he had no abnormalities. We saw a genetic counselor and they explained everthing to us. Does this mean that we could still have a normal pregnancy and go on to have children?
    Any input would be greatly appreciated.

     
  • At Thu Dec 06, 05:50:00 PM 2007, Anonymous Anonymous said…

    I too just found out that I am a Balanced Robertsonian Translocation Carrier...between 13 & 14. My husband was also tested and he had no abnormalities. We saw a genetic counselor and they explained everthing to us. Does this mean that we could still have a normal pregnancy and go on to have children?
    Any input would be greatly appreciated.

     
  • At Thu Dec 06, 06:01:00 PM 2007, Anonymous Anonymous said…

    I too just found out that I am a Balanced Robertsonian Translocation Carrier...between 13 & 14. My husband was also tested and he had no abnormalities. We saw a genetic counselor and they explained everthing to us. Does this mean that we could still have a normal pregnancy and go on to have children?
    Any input would be greatly appreciated.

     
  • At Thu Dec 13, 01:59:00 PM 2007, Anonymous Anonymous said…

    Dr. Trofatter please help me. My husband and I lost our son when i was 8 weeks and 6 days pregnant. This was my second miscarriage. They did chromosome testing on all 3 of us. My husband is fine, our son had Trisomy 14 and I am a Balanced Robertsonian Translocation Carrier. Between 13 & 14. We saw a genetic counselor who explained things to us but my main question is, Will I still be able to have normal pregnancies? We are currently trying again and I really want to produce a good egg this time. What are the odds?
    Thank you so much for your help ahead of time.

     
  • At Thu Jan 03, 08:04:00 AM 2008, Anonymous Anonymous said…

    I'll be turning 38 next month. I have been pregnant twice in the past but aborted both times for personal reasons, not having to do with whether or not the pregnancy was normal (I don't know if they were or not).

    I'm considering doing IVF with PGD. I have a Robertsonian Translocation (13;14), inherited from my father. It is very expensive and it's my understanding that PGD cannot screen for everything and that it is only approx 80% accurate.

    My question is: even assuming a pregnancy sticks and I deliver, what are the chances of any abnormality (not just severe ones)? Am I at higher risk for other less serious abnormalities?

    Thank you in advance for any feedback.

     
  • At Sun Jan 06, 06:08:00 AM 2008, Blogger Fanny said…

    Hi Dr Trofatter,

    I am very grateful to have found your website since I live in Singapore and the statistics/study on chromosomal translocation are scarce and I am feeling helpless. My gynecologist is still locating for genetic counselling for me. I am 32 and got pregnant after trying to conceive for two months. I eventually suffered a missed abortion at 10 weeks. My baby had a heartbeat at 7 weeks and the heartbeat stopped at 7 weeks 3 days. I requested to do a chromosomal analysis and test result was as follow: “Chromosome analysis on this peripheral blood specimen demonstrated the presence of Robertsonian translocation between chromosomes 13 and 15 and an apparent low level mosaicism for Turner syndrome (2 out of 50 cells)”. From my visual layman explanation, one of the chromosome in 15 has gone over to attach one of the chromosome in 13.

    Karotype: 45,XX,der(13:15)(q10;q10)[48]/44,X,der(13;15)(q10;q10)[2]. I was given the hardcopies of two test specimens, one with only one X chromosome and the other with two X chromosomes. Both the two specimens contained the (13;15) abnormality.

    My first set of question is: Are my chances of conceiving a baby with the right total amount of genetic materials similar to the more common (13;14) translocation in Gina’s case? Can I assume that the gametes analysis you did for Gina is similar to mine and my success rate is 33% with about 15% chance of my baby being a carrier? Or is my (13:15) translocation a very rare case and I have a very low chance of giving birth to a healthy baby? My husband has a normal karyotype.

    My second question is: Is my “apparent low level mosaicism for Turner syndrome (2 out of 50 cells)” a great cause for concern?

    My third question is: Given my (13:15) translocation and mosaicism for Turner syndrome, what are the specific tests that I should opt for if I undertake 1) amniocentesis or 2) CVS? And if CVS is done very early, is there a chance the baby will develop an abnormality in the growth of the baby’s limbs?

    My fourth question is: Will amniocentesis be able to diagnosis if my baby has is a translocation carrier or it is only possible to know after he/his is born and a chromosomal test is carried out.

    My last question is: My hubby and I really love to form a complete family and is determination (keep trying) the best solution? I understand that IVF with PGD does increase my chance of having a healthy embryo but it also subjects me to the risks of failure under IVF although I have no problem with my progesterone levels. Thank you very much. Best Regards Fanny

     
  • At Fri Jan 18, 05:10:00 AM 2008, Blogger Kenneth F. Trofatter, Jr., MD, PhD said…

    To Fanny Jan 6: For some reason your cooment got to my mailbox but did not get posted on the site. Anyway, I thought it was a great one, so I featured you in my post of Jan 17, 2008! Hope you don't mind. Best of luck to you! Dr T

     
  • At Sun Feb 17, 05:43:00 AM 2008, Blogger scarlett said…

    On Friday I was told that I am a carrier of 'Balanced Robertsonian Translocation'. My Karyotype is 45,XX,der(13;21)(q10;q10). I have read the many messages posted concerning this subject and now understand it a little better. My doctor did sit with me and explain the implications at the time but it went in one ear and out the other as I must have been in shock all I seemed to have taken in is chromosome disorder!
    I do have a healthy girl who is now 26 months but since her I have had two miscarriages, one that was classed as a missed miscarriage (no heartbeat at the 3 month scan), baby had died at 9 1/2 weeks and the second died at 7 1/2 weeks, I had to have a ERPC with both. This then lead to both my husband and I being tested. My husband is normal and I am the carrier of robertsonian translocation. I have since read about what this means and understand the condition a little better .However I have found very little information on the combination of 13 and 21. Is this a rarer combination? If so what are the implications / percentages of having another healthy baby? My sister has one healthy boy and a little girl that was born with down syndrome. She had been given a nucal fold scan but she was placed at low risk and as there was no family history of chromosome abnormalities no further tests were carried out. When she was born tests were carried out but nothing like this was mentioned, if something like had been discovered then surely we would have been told? My niece was apparently just one of those things that happen, a one off. She is beautiful and we wouldn't be without her and I almost feel guilty talking about her in such a way but I know my sister would understand my concerns.
    My brother has just had a healthy baby boy, but does this mean he could be a carrier but like me was lucky in producing a healthy baby first time round?
    My husband and I and now considering our options. I do not fall pregnant easily, it took over a year to fall pregnant for my little girl and that was with the help of clomid. The last two pregnancies have taken 10 months. I am now 33 years old and I am not sure time is on my side? My doctor did mention PGD but not sure what to do. An appointment is being made for us to see a genetic councillor but we have been warned it might take a while.
    I am sorry for the essay but feeling rather confused and lost at the moment.

     
  • At Sun Feb 17, 01:40:00 PM 2008, Blogger scarlett said…

    On Friday I was told that I am a carrier of 'Balanced Robertsonian Translocation'. My Karyotype is 45,XX,der(13;21)(q10;q10). I have read the many messages posted concerning this subject and now understand it a little better. My doctor did sit with me and explain the implications at the time but it went in one ear and out the other as I must have been in shock all I seemed to have taken in is chromosome disorder!
    I do have a healthy girl who is now 26 months but since her I have had two miscarriages, one that was classed as a missed miscarriage (no heartbeat at the 3 month scan), baby had died at 9 1/2 weeks and the second died at 7 1/2 weeks, I had to have a ERPC with both. This then lead to both my husband and I being tested. My husband is normal and I am the carrier of robertsonian translocation. I have since read about what this means and understand the condition a little better .However I have found very little information on the combination of 13 and 21. Is this a rarer combination? If so what are the implications / percentages of having another healthy baby? My sister has one healthy boy and a little girl that was born with down syndrome. She had been given a nucal fold scan but she was placed at low risk and as there was no family history of chromosome abnormalities no further tests were carried out. When she was born tests were carried out but nothing like this was mentioned, if something like had been discovered then surely we would have been told? My niece was apparently just one of those things that happen, a one off. She is beautiful and we wouldn't be without her and I almost feel guilty talking about her in such a way but I know my sister would understand my concerns.
    My brother has just had a healthy baby boy, but does this mean he could be a carrier but like me was lucky in producing a healthy baby first time round?
    My husband and I and now considering our options. I do not fall pregnant easily, it took over a year to fall pregnant for my little girl and that was with the help of clomid. The last two pregnancies have taken 10 months. I am now 33 years old and I am not sure time is on my side? My doctor did mention PGD but not sure what to do. An appointment is being made for us to see a genetic councillor but we have been warned it might take a while.
    I am sorry for the essay but feeling rather confused and lost at the moment.

     
  • At Mon Feb 18, 11:57:00 PM 2008, Anonymous Anonymous said…

    Dr. T
    this site is great with such useful info on this rare disorder
    I am a male with Robertsonian translocation 13-14. Me and my wife are unable to conceive after being together for almost 14 years. We have gone thru, IVF once and ICSI twice with PGD but all these times the embryos never went beyond the 2-4 cell stage and always showed lot of fragmentation and degeneration. I had FISH done and was told that I had at least 50% sperms that had balanced translocation. I also have severe Oligospermia.
    With the above history in perspective, we decided that the only time we would have any further treatment done is if and when possibly a newer technique becomes available for sorting the sperms out and possibly getting ICSI done with sperms carrying balanced translocation.
    Recently I read an article on flow cytometry that is apparently being used for sex selection.
    My questions that I would greatly appreciate the answers to:

    1. Are the chances of conception even lower in male translocations ?

    2. Are you aware of flow cytometry or any other technique being used to sort live sperms out and then perform ICSI with the ones with balanced translocations--- If so what centers are doing it.

    thanks much in advance

     
  • At Fri Feb 22, 11:37:00 AM 2008, Anonymous Anonymous said…

    I am a 30yr old female that has had 6 misscarriages and only 1 healthy baby, I also carry a Balanced Robertsonian Translocation between 13 and 21. I don't quite understand why I am not batting 50/50 with having a child. You stated that there should only be a 23% chance of this happening. We tried in-vitro with PGD testing and lost 4 more embyros on top of the 6 miscarriages. Any advise would be great.

    Thanks
    Kate in PA

     
  • At Mon May 12, 03:18:00 PM 2008, Blogger kali said…

    Hi. I am 39 yr old female, Indian origin.I had a normal birth, identical twin pregnancy at aged 25 with a white english father. Both kids are fine.I was diagnosed with balanced translocation of 13/14 at aged 29 when i became an egg donor for a friend. She continued to use my 'clear'eggs after gentic testing, but still miscarried at 5 weeks. Since then i became pregnant again at age 34 but miscarried at 11 weeks. What explains this pattern? After my last miscarraige I have used the IUD for 2 years till 3 months ago and I am now trying to get pregnant and have a third child.. What are my chances and do i need to do first trimester genetic testing if i do get pregnant?kel

     

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