We received the genetics report back from my doctor yesterday.
I had been anticipating yesterday’s phone call since my D&C took place a month ago. I worried that the report would bring us results suggesting that I had done something wrong. (I think every parent thinks that.) I worried it might be something on Toby’s end. I thought the report might inform us that there was something horribly wrong with our genetic makeup. I mostly worried about my age and the eggs I have left. But none of that was the case with this pregnancy.
Our fetus had something called triploidy, a rare condition incompatible with life.
A fetus with triploidy has 69 chromosomes, rather than 46. The majority of fetuses with triploidy are spontaneously miscarried during pregnancy. Those that survive until birth will have severe growth retardation and multiple birth defects. This condition is incompatible with life.
This baby had a whole extra set of chromosomes, 69 instead of 46. It hadn’t had a trisomy after all, which is precisely what I had been feverishly researching.
I was floored by this information. The biggest question weighing on my mind at that point was: OH MY GOD. How did I go 11 whole weeks?
“That’s what I wondered too.” She said. “I’m shocked you didn’t miscarry sooner.”
She went on to tell me that this means there’s nothing inherently wrong with my eggs or my genetics and there’s nothing wrong with Toby’s either. She said there’s nothing I could have done to stop this and there’s nothing I did or did not do that caused it. She reassured me that should we ever wish to try again, there’s nothing that suggests we’ll have problems in the future.
We talked a bit more about how I have been and I thanked her once again for being so kind to me that day. She said I can thank her when she delivers my second child. And I wept.
It should go without saying that Toby Joe and I yearned for and imagined a healthy baby. But this was not that baby. This baby wasn’t the one we named or pictured in our minds. This fetus didn’t stand a chance at life at all. This baby simply wasn’t meant to be no matter how much we wanted it.
This information helped me immensely, but I still wish my body figured it out sooner. I wish it hadn’t worked so hard at keeping this fetus alive and for so long. And I’m left wondering if this is why I was so completely wrecked with sickness. But that’s something I’ll likely never know.
After we got off the phone, I began researching the information she had given me. I plugged terms into Google and it spit back answers. As I combed through information, I realized that she had inadvertently given me the gender. And I was surprised to discover that knowing as much didn’t bother me as much as I thought it would. I think that’s because I knew that this fetus never stood a chance at life, so this wasn’t the person I had imagined and named after all. (Or maybe it’s a defense mechanism, either way, I’ll take it.)
So, how does triploidy happen? Do you care as I do? The researcher and forever wonderer in me does care and so…
There are a few different ways triploidy pregnancies can occur:
The most common mechanism for triploidy is the fertilization of a single egg by two sperm.
This is what is referred to as paternal inheritance (2 sperm, one egg). It accounts for 60% of cases of triploidy. The placentas are small and non-cystic.
The other mechanism is an error in cell division in which an egg cell ends up with 46 chromosomes instead of 23.
This is what is referred to as maternal inheritance (egg with 46 chromosomes fertilized by sperm with 23). This accounts for 40% of cases of triploidy and is often referred to as partial molar pregnancy, where the placenta is enlarged and cystic.
My placenta wasn’t enlarged or cystic. A partial molar pregnancy had been ruled out for me.
In our case, this egg was most likely fertilized by two sperm (but I am by no means a geneticist).
Had you told me about this disorder a year ago—even two months ago—I would have thought, “Wow, that’s some crazy rare weird genetic stuff. What are the chances?”
Triploidy occurs in about 1–2% of all conceptions, but most of these pregnancies end in early spontaneous miscarriage.
Yeah, no chance that’ll be me.
A month ago, when my life became such a blur I’m not even sure I was the one living it, my doctor called to give me my options. After we decided to schedule the D&C, we spoke more about doing a biopsy and running the genetics. I wasn’t sure if that’s something I wanted to do at the time. I went back and forth with her on this and finally just asked her, as a friend, to tell me what I should do. She replied, “Well, knowledge is power.”
I agreed to do it.
Yesterday was a bad day all around for many reasons, so when her call came in, I prepared myself for the absolute worst. If there was one day I needed some power, it was yesterday.
I realize that this post may read a little matter-of-fact, a little stony compared to other posts I’ve written on this topic. You’ll have to forgive me for that. But yesterday’s news brought me some closure, a little more strength and a bucketload of hope.
I’m still not sure if we’ll ever have a go at this again. I am, after all, 35 and not getting any younger. But I know now more than ever before that some things truly are outside of my jurisdiction, completely beyond my control. I now know that for whatever the reason may be, this happened to us because it had to happen to someone.
Instead of asking, why us? Today I’m asking, why not?
So, if you’ll excuse me, I’m going to do something I’ve never done before: I’m going to buy a lottery ticket. Because I reckon our place in the universe (statistically speaking) has a little bit of leveling out to do.
thanks for sharing. I appreciated the information. I love the thought that knowledge is power, especially in such a tough choice as yours was. You are doing a good thing by sharing so that others can know they’re not alone. Hope you win something in that lottery.
I just think your body is SO GOOD at nurturing and growing life that it picked up some cells not quite ready to make it.
In my opinion, it’s because you’re so gifted at reproduction that this happened.
And also? Giant hug all over you.
I’m so glad you did the testing, and discovered the truth. I once had a doctor tell me, “With everything that needs to go right in a pregnancy, it’s a miracle that any of us are here.”
Still sending you mad love from here.
This post didn’t sound stoney at all. It sounds relieved and hopeful. I hope that things only start looking up for you. I know you’ve been through a lot. You’ve been in my thoughts.
P.S. that is the best ending to a post…ever.
i know this has been very hard on you both, but there is an odd sort of romance revealed that has been hidden in all of this mess. your eggs *really* want to be fertilized by toby’s sperm, and vice versa.
here’s to the future.
Sending so much love to you guys, Michele.
I’m glad you got some answers and, more importantly, some closure.
Much love to you and your beautiful family.
Sending you love and hugs. I’m happy you got some closure, but don’t afraid to still be sad, if that’s what you feel too.
Of course I’m still sad. I’m sad that things didn’t go as planned. I am sad for my husband, my son, and myself, to be honest. And I’m sad that this baby was so compromised. But I feel 10 times better than I did last month. So, there’s that.
I have good moments and bad ones. Today has been filled with good ones. Granted, blowing bubbles into the stream of our central AC unit with my son and my cats around helped.
I hv undergone the same phase as you… i just got the same reports as urs… but im relieved to not hv given birth to my child as it would hv suffered so much… waiting for conceiving again soon….lots of love..
i’d like to echo helen jane’s sentiments.
glad to hear today’s a bit of a better day.
Thanks for sharing. I’m so jealous of you for being able to talk about it and helping sb like me who went through some of what you went through. Hope all your future days are filled with good moments.
By the way I made the cake and it was awesome.
You sound relieved in this post. Glad to hear that you have answers and won’t beat yourself up over something so radically out of your control.
As a biologist I would just like to say how well written this post was, and as a fellow woman I would like to let you know that my thoughts are with you and your family.
Sending you hugs.
I keep thinking I have no idea what to say, never been through this so should say nothing, but how you’ve shared this has moved me. As I began reading this post and your why, I kind of imagined this little one as some sort of expression of the hope that you didn’t know was there for a second child….and at the end you said something about a bucketload of hope. It feels like there is a bit of lightness with this closure and for that I am glad. Thinking of you guys!
lovely post, truly
i am so, so sorry for the loss of your second child; i truly am, michele. i look forward to when she delivers your third baby…
Hi Michele– Great, informative post. Not at all detached. I can understand how this helped to give you some much-needed closure.
BTW, one of my friends who miscarried twice just had her second son at age 41. He is beautiful and healthy. So, if you do decide to try for another someday, know that it can be done (which I know you know, but sometimes it helps to hear other people’s stories.) Feel better soon, or at least soon-ish :-).
Knowledge is power. I’m a librarian who believes with in my being and education that those who are “information literate”, sorry a library-land term, at the end of the day gain power from the information. We have an easier ride with the good information but the bad can also provide good… over time.
Best to you and your loves.
One of my favorite sayings is “The more you know, the less you fear.”
I’m glad you’ve got answers now.
Lots of hugs to all of you..xox
PS – I made the angel food cake yesterday. YUM.
big bear hugs to you and your family, michele. i’m so glad this news brought relief to you. you’re so much stronger than you give yourself credit.
I was just as ambivalent about the testing as it sounds like you were. And I felt the same way when we got our results back: absolved of guilt and somehow comforted by the idea that there was no other possible outcome. Not that there isn’t still grief. It’s just…different now.
Thank you for sharing your story, and I’d say that the universe has a little work to do, leveling out. :)
Delurking to say how very sorry I am for you and your husband, but glad that you have found some comfort in knowing the science behind what happened. I do agree that “knowledge is power”.
Oh, and about being “35, after all” – I gave birth to my only child just after I turned 40. He’s now a very happy, healthy, all-boy, boy and almost 10 years old.
I wish I had been able to have another child, or at least to try. Our life is good and we are happy. But I would have loved to see my son and a sibling grow up together.
Please don’t think it’s too late to try again.
Wow, it’s kind of a relief to read all this. Closure seems to be a hard thing to find with miscarriages, or anything concerning your children, really. I’m so sad for the baby that you lost, both the actual fetus and the idea of the younger sibling for your Em. At least there’s some sense of hope and no concern a troubled pregnancy in the future.
And blowing bubbles with your son and cat sounds lovely… I’ll have to remember that when we’re having one of those days. (Often, lately, unfortunately).
It is so good to read your story, im very sorry for what happened i know what you are going through, i just had to terminate my pregnancy because of triploidy, i was 5 months, it was the worst time of my life and im so sorry for anyone that has to go through that, another bad thing about this was my 4 year old daughter asking me what happened, i had to tell her the doctor made a mistake that there was never no baby, its been a whole week and she has not mentioned it, that makes me feel better, like you said i know that this baby had no chance and as hard as it was, it was for the best and i had no choice, i keep telling myself. Everyday gets easier and i thank god for my other 2 girls that they are healthy and i know i will have another baby that is just has healthy as they are when the time is right and so will you….
I am having an amnio in two days at 17 weeks to determine if my baby is a triploidy. I went from having a dream pregnancy to having the shock of my life when the ultrasound showed evidence of triploidy syndrome. We tried to get pregnant for 3 1/2 years and did expensive fertility treatments. We found out we are having a girl. It is exactly what we wanted. I just never could have imagined something could go so wrong. Now, we are facing terminating a pregnancy that we wanted so badly. I just don’t want my baby girl to suffer. She is a fighter, hanging on so long. I think my body will never give her up.
My daughters baby was delivered yesterday it was nearly 15 weeks and was a triploidy baby The scan appeared normal the bloods were what set the alarm bells ringing, the cvs was done ,placenta grown and then we had the terrible news, the baby looked normal to me after it was born but I am no expert and we did not want to continue with the pregnancy as we were told that these babies are not compatible with life, we only wish nature
had made the choices instead of us.
Pauline-My baby thrived up until the day I had a D&E at 15 weeks on November 22nd (last week). I too, had great ultrasounds and no questionable measurements. My CVS test was driven purely by the blood results, so it all didn’t make sense to me at all. I too, wish nature had made me miscarry earlier on, but my body held onto that pregnancy through thick and thin. I had had immense cramping an bleeding up through 13 weeks and my pictures always showed the baby was fine. I recently received some closure after speaking to my doctor who confirmed that the fetus had “cardinal” signs of triploidy as well as a very thin placenta.
I am 35 years old…I had gone through a similiar scenerio. It was my second miscarriage. The first one…was a slight mystery, I started to spot at 6 weeks, had fetal heartbeat, but two days later, still with heavy bleeding…discovered no heart beat,, we didn’t do a D&C, I just took vaginal Rx and let nature take it’s course. I had pre-existing hypothyroidism and was taking 50 umg of Levoxyl. It was thought by the endocrinologist that I lost the baby because I wasn’t on enough Levoxyl. Now I am on 100 umg and have completely suppressed by thyroid stimulating hormone. Three months later, we tried again and we were pregnant. At 8 weeks, fetal heartbeat was present and everything looked ok, however, during a follow-up visit at 10 weeks, when I expected everything to be normal, the ob/gyn could not find heartbeat with abdominal US, so he tried vaginally, and still no heartbeat, he said that it probably died 3 days after my first exam…I was devastasted. Completely took me by surprise, because I felt fine, no bleeding or anything. This time I agreed to do the D&C, so that I can get a biospy of the “fetal tissue,” ….that was VERY sad to hear. My baby was now called fetal tissue, it sucked to hear it the first time, but in retrospect, it sort of helped me detach my feelings from “the baby, which was now tissue”….I know it’s a bit sick, but I will say it helped to call it that. And then results came in and the report said female triploidy. After doing some research, I believe, it had nothing to do with my age….we are now “trying” once again. I seems that are trying is successful, however, lets hope this time I can hold on to my baby….I won’t get my hopes up, until I deliver and the doctor says that he/she is healthy. All my life….I thought I was healthy….I am actually a bit of a healthnut….vegetarian, work-out, etc….over the past year, I have seen more specailists than I care to count….I have faith that next year will be a better year, and I hope and pray to become a mother. :) BRING ON 2010.
I too had a triploidy baby. He lived for six days. In the following year I had two miscarriages. I then went on to have two more children, healthy girls.
Thank you for sharing your story, I too lost my first child to triploidy. I carried her for 16 weeks before I had a d&c, it was the hardest decision of my life. I thought I had come to terms with what happened until recently someone told me I “gave up” on my child and I was a “murderer” never felt so hurt. I feel I gave her a gift of ending her suffering early for her and I shouldn’t be judged. Makes me feel better that others made the same choice, not that I want anyone else to go through what I went through. I am lucky to say today I have 2 healthy children now and I have one little angel watching over us all.
My daughter just had her first pregnancy and had a quad screen done which showed a marker for Trisomy 18, however based on the results of an amnio it turned out to be a Triploidy pregnancy. She carried the baby 31 weeks and when she delivered, the baby had died 2 days earlier. Tis baby had all the body parts, but many of the signs of Triploidy such as fluid on the brain, webbed fingers and many internal abnormalities. We held her, loved her but knew she had already gone to be with Jesus. Ther was no molar or partial molar involvement. My daughter just had her 1 month check up and everything looked perfect. Although we will all always have a special place in our hearts for this precious baby, when my daughter and her husband feel emotionally ready they will try again. The Drs. at Medical College of GA have told her that they have no more chance of this happening to them again than anyone else who becomes pregnant. We feel very blessed to have been so close to a teaching hospital and the best of specialists. They have also had genetic counseling and all appears well. If this happens to you, don’t give up. I pray that my daughter and the rest of you will be blessed with healthy pregnancies and babies. We have found much comfort in our faith in God and our church family.
I’m so pleased and relieved to read the initial post and the oats thereafter from the mums directly affected by this condition. I realise this is an old post but the situation is very real and recent to myself. I had to have a surgical abortion carried out at 21 weeks due to a triploidy pregnancy. Utter devestation. This was my second pregnancy- cherished and long awaited, and we were delighted that this time I seemed to have no symptoms! Too good to be true I continually thought- who knew?! I had been scanned about 4 times by the time I was 14 weeks due to some bleeding then on the day before my 20 week scan, went to hospital again due to bleeding. We listened to the heartbeat which was fine, I was then sent for a scan to check position of placenta as a precaution and that is when we found out initially something was very wrong. Throughout this terrible nightmare journey, for me, the moment we were told there was a ‘big problem’ was my worst point. My baby had severe hydrocephalus to which we were advised to have an amniocentesis done to determine if any chromasome Abnormalities. Results showed baby had triploidy. Horror, fear, frustration, shock, terror, devestation are a few of the many feelings we had. Researching everything in depth, I knew there was no hope. Maybe I needed to write this all down as some sort of release but knowing like minded people may see this brings me some comfort- we all know out families can be supportive and comforting but they can never ever know- there are no words to represent this period of our lives. I wish you all the best for your futures whatever you decide- god knows we deserve it. Strangely I thank god the decision to let my baby go was an easy one- it was taken out my hands as Phoebe had no chance before she even arrived. Looking for extra strength at Christmas this year as she was due on 25th December. Life really is so horribly cruel.
Gillian: I am so very sorry for your loss and everything you’re going through. I know you’re in the thick of it now, but I wanted to say that you WILL get through this. At times during 2009, which is when this all took place, I didn’t think I’d survive it. And I am a different person today because of it. But life is substantially better now. I went on to have a baby in 2011. He is now 2.5. He is a wonderful addition to our family. It sucks I had to go through the heartache to get to this point, and, like I said, I am different because of it. But I’m OK now. I’m stronger. And I just know, that you too will be OK eventually. It will take time. And everyone in the world could tell me this back in 2009 and I’d have thought they were wrong. I really didn’t think I would ever feel normal and whole again. But I do. And I’m OK now.
Again: I am so sorry. But I wanted to take a minute to let you know that you WILL get through this. Feel all the pain and sorrow and suffering you need to feel. You deserve to scream to everyone and anyone. But know that you will be OK.
Much love to you, my friend. Please do NOT hesitate to write me an email if you want to talk. I can be a pretty good listener when it comes to infertility and loss.
Thanks for your thoughtful reply. I hope I haven’t opened healing wounds for you xx
I just wanted to take a moment to say thank you for writing your experience and for those that have responded too.
My partner and I found out last week that our 16 week baby has triploidy and we are scheduled for the termination (hate calling it that) this Friday. I have accepted that our angel is a miracle too good for this earth and that they will become a guarding angel in our lives. However, at this point, I am dreading the procedure as I don’t know what to expect. I know we have to go through this and that it’s part of the process, but it still hurts like hell.
Thanks again for your stories ladies, they really do help.
I’m so sorry you’re going through this, Ellen. Peace be with you.
Thank you for this post. We received our results of our miscarriage yesterday, my baby hanged on till 21 weeks. The results were Triploid, we were rather matter-of-fact about the whole miscarriage, but after receiving the results yesterday I felt quite down. After reading your article it has lifted my spirits and reaffirmed there was nothing me could have done.
Perhaps I should buy a lottery ticket too!
Thanks again, E.
I had a triploidy baby that lived until 22 weeks. She may have lived longer but we decided to induce because we also had a partial molar pregnancy. Which means there was a risk for cancer.
I’m sorry for your loss.