Chromosome Testing

14 Replies
lisa - December 9

Has anyone been tested for chromosomal abnormalities? I've had 2 m/c, and decided to do a whole panel of testing. My chromosomes are normal, and we're still waiting for DH results. Does it mean I have no mutations, considering it was normal? Would appreciate any input. Thanks


Erin - December 9

My husband and I had chromosomal a___lysis (karyotyping) done after my third miscarriage this year. We both have a children from previous marriages. We both came back "normal." I also had the tissue from the last mc a___lysed. They could not grow it in the petrie dish, so no result. I had other blood tests, though, and I was discovered to have MTHFR, a blood clotting disorder, one of those heparin things. This is a chromosomal mutation, although I believe you have to have a separate blood test for it... Not sure. Result came back separately from other chromosomal testing, as did all the blood clotting disorder tests (there are several).


lisa - December 9

Thanks Erin for getting back to me. I did have the clotting test, and that came back as normal. I'm just waiting for glucose, and thyroid tests. Besideds, my Dr. told me she would give me progesterone, regardless. I also had an x-ray of my uterus to check for blockages, and uterine fibroids. Anything else I should be aware of? Thanks


Erin - December 9

From previous experience, I would not take the progesterone without having a 21 day blood test, or an endometrial biopsy. If you are not one of the few women who actually suffer from LPD, it will not help you. In fact, it will prolong a doomed pregnancy weeks, even months longer than necessary. I was on progesterone (without being diagnosed for LPD first) and thought all was going well, but found out at a 10 week ultrasound that the baby had died around week 8. This was after we saw the heartbeat. The placenta had continued to grow, due to the progesterone, despite the demise of the embryo. I was still vomiting, felt completely pregnant. I've since had a 21 day blood test, and my progesterone was 26.6 - slightly HIGHER than the average range. If a woman is pregnant and finds out her progesterone is low, take the progesterone supplements and give it a shot. But if you've had a miscarriage or two (or three) already, get diagnosed properly and save yourself what could possible be a lot of heartache. If you don't have LPD, you could lose more valuable time, hope, and the opportunity to find out what might really be wrong. If you and your doctor still want to go the progesterone route without prior testing, make sure you get weekly ultrasounds to monitor the situation.


lisa - December 10

Erin, Thanks for all your info. My last m/c resulted when the baby stopped growing at 7 weeks, but I was 11 weeks along. I'm so afraid to get pregnant again, and I'm looking for what the hell is going wrong. My uterine tests should be back soon, and I'm sure It will give me more insight. Again, thanks for your information. If you have more- pa__s it on !!! Thanks


erin - December 10

Just a continuation.. I will be monitored weekly, as my Doctor considers me a high risk. I'll be 36, so I will be looking forward to alot of monitoring. Have you been successful as of yet? I have no children, and planning on just having 1!! It's just too risky as you get older. Thanks for the info.. Lisa


Erin - December 10

I have one child, a girl who is now eight. I had a miscarriage, a blighted ovum, several weeks before I became pregnant with her. I had some spotting during the pregnancy and PROM at 35 weeks. I never tried having more children until last year, when I was 36. What I hated about taking the progesterone and learning that I didn't really need it, is that I am now 37 and since that pregnancy wasn't even meant to be but was prolonged, I lost even more times... Months count at this stage. Anyway, I am now being treated for clotting disorder and am trying to get pregnant again. This was my first month TTC, so I'll find out next week if we were successful. I am under the care of an intfertility/high risk practice now, and I must say, it's much different that going through the paces with a regular obgyn. I loved my old doctor, but his practice just wasn't equipped to deal with someone with my history.


lisa - December 11

Hi Erin, I switched Doctors as well- One that is more equipped to deal with recurrent m/c. My old obgyn just kept saying, well, just bad luck. I couldn't except that, so I moved on to someone else with more experience. It's all very frustrating, but I hope everything works out for both of us!! Were going to start trying in Feb- Good luck!!


Tara - December 11

Hi, I have had two losses this year 12 weeks and another baby girl at 18 weeks 5 days. My first was not tested because they do not test your first loss where Im from. The second I had an amnio and my daughter had Turners Syndrome and missing or damaged X chromosome, because of swelling in her heart and brain and lymphatic system failure my daughter had 0% chance of living to term. Right now my husband and I are seeing a genetic councellor and they can't tell us if the missing X chromosome is damaged or just missing because they could not get a sample of amniotic fluid from the amnio they had to take fluid from our daughter to test . They say if its just missing this is common it is usually 10% of all first trimester miscarriages, but if its damaged then one of us has mixed up chromosomes and future pregnancies could be affected.My husband and I do have two older children a daughter and a son and they are healthy, so the chances are that it was just a case of horrible luck. I was told that if I do carry a gene that causes missing chromosomes that it could be in my ovaries and there is no way of testing so we would not know. Im scared to try again because of my last experience, but would love to have a baby. They are going to monitor us at a high risk clinic and offer me amnio if I should become pregnant again. I would love to try again, but terrified that I could lose another . I hate when doctors keep saying its bad luck I sure wish there was an answer. take care and best wishes for future pregnancies


Erin - December 11

Tara - have you and your husband had karyotyping (genetic testing). You both should. And if you have a damaged chromosome, you are good candidates for PGA - predetermined Genetic implantation, where they take several embryos, test them to see if they are damaged or not, and then only implant the normal embryos. You sound like a good candidate for this. If you live in MA, insurance is required by law to pay for all of this. My cousin is having it done.


lisa - December 12

Hey Erin, Do you live in Ma? I'm just curious, because I do, and was wondering where. Also , if you have any other info on tests I should be having- Let me know! Thanks


Erin - December 12

No, Lisa, I live in NYC. My cousin lives in MA, not sure where exactly though. Only six states at present force insurance companies to cover infertility treatment, excluding IVF and PGD, etc... MA is very progressive, and forces insurance co.'s to cover all of it. I'll let you know what tests the specialist order that my regular ob/gyn didn't. One was so rare the nurse and to look it up. I'm going tomorrow.


lisa - December 12

Hi Tara, I'm so sorry for your loss. I read about it on another thread. I can't imagine going through that, my heart goes out to you, and your family. Chromosome stuff is so confusing. I'm still afraid to try again. I'm waiting for dh chromosome results, then we'll go from there. Erin, keep me posted on what you find out tomorrrow. Thanks!!


Erin - December 12

Tara - I really don't think that is true. If you or your husband have what is called a "translocation", which is basically a fractured chromosome that is of no consequence to you, but a problem when you pa__s it on to an embryo, the genetic testing will definately tell you if that's the case. That is an inherited predisposition to certain types of trisomies and other chromosomal mutations. The genetic testing will find this out about you and your husband. People with these problems have a higher chance than average of having a chromosomally damaged embryo ( so lots of what doctors call bad luck), but can still produce normal children. You just have to throw the dice alot, or you can do pre-implantation genetic determination, where they only take healthy embryos and implant them.


Tara - December 14

This whole thing has been so confusing and I wish I could just get answers, but we have to wait. Im sorry it took awhile to reply, but we just had my daughter Treya's funeral. The lab is going to try and grow a culture of her skin and see if they can find a missing or damaged X chromosome. I sure hope its missing because if its damaged my husband and I will be tested and then maybe our daughter Destinee depending on our results. Because of Christmas and the lab out of town I won't find results until Febuary and they said they don't know if they can get a good culture.Erin, we have not had genetic testing done on ourselves because there waiting to see our daughter Treya's . Good news is we do have a perfectly healthy little girl and a son, the thing that scares me is if we do have a translocation then our live daughter needs to be tested for Turners. My daughter is short, but Im only 5'3 and most of my family is that height or even shorter, but I don't think she has Turners.Im terrified of going into another pregnancy until we can get some answers. We live in Canada . We now qualify for amnio testing and I can get all ultrasounds done at high risk clinic by experienced doctors if I should become pregnant again. The genitic councellor I talked to said that he would recommend trying again when we want to because we do have two healthy children. Our daughter Treya's death was really diffucult and we never want to have to go through that again, but we love children . We decided to wait until September to start ttc then we should have results back from the genetic testing. It sounds awful, but we just don't want to give up on our dream of having another baby, but I am blessed that we do have two and if its not possible to have 3 I guess we will have to accept that. I just hate the fact I can get pregnant, but my poor babies suffer and die.Thanks for all your info.Take care and lots of prayers for healthy future babies for all of us!



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