# Miscarriage & Trisomy 21



## slowtime (Sep 25, 2006)

The doctor just called with the results of the genetic testing we had done after our D&C last month. Our baby had Down Syndrome. I did some web-searching, and found that there's a strong link between Down Syndrome and miscarriage.

We don't know if that's what happened with our miscarriage last year. The doctors we saw then didn't feel like it was worth investigating - they wouldn't even confirm that I was having a miscarriage until it was too late to learn anything about what happened. The ultrasound we had in the emergency room showed an empty gestational sac when I was supposed to be 10 weeks along, but they don't know if it was a blighted ovum, or what.

This time I saw a healthy baby at my 8 week ultrasound, and when I went in again at 12 weeks they found the baby had been dead for two weeks. Now we know why.

When I was a little kid, I had acute myelogenous leukemia. One of the genetic tests they ran on me indicated a mosaicism associated with Trisomy 21, or Down Syndrome. No one in my family has Down Syndrome, on either side, but my mother has always worried about that. When I got married, she recommended I get tested to see if the mosaicism was still there, and if it meant I was a carrier for Trisomy 21. She wanted me to know so that if I ever got pregnant with a Downs baby, I could abort it. I found her attitude repellant, so I ignored her altogether.

Now it looks like I am a carrier. I've been pregnant twice this year, and I lost both pregnancies towards the end of the first trimester. We'll never know about the first, but it's certain that I lost the second due to Trisomy 21. If we get pregnant again, I could easily conceive another baby with Trisomy 21. The risk of miscarriage or stillbirth is high. The risk of medical problems if the baby survives is high.

I am not against being mother to a baby with Down Syndrome, but I'm terrified. To go through all this, knowing all the risks...

Obviously, I need to see a genetic counselor and get tested again. But I'm pretty sure I know what the results will be. And if I am a carrier, with a high risk of passing on Trisomy 21, is it a) worth it to my mental and emotional well-being to risk more miscarriages; b) worth it to my family and the quality of our lives to deliberately get pregnant and give birth to a baby whose risk for heart failure and childhood leukemia is significantly elevated?

It would be one thing if my pregnancy had continued, and I'd given birth to a baby with Downs. I loved my baby in-utero - of course I'd love any baby I gave birth to. Love isn't the issue, and Down syndrome isn't the worst thing that could happen. Risks are everywhere. But to run the risk deliberately is different.

I don't know. I'm sort of thinking out loud.

Has anyone else here faced something like this? How did you handle it? Did you risk another pregnancy, and if so, how did it turn out?


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## ecstaticmama24 (Sep 20, 2006)

First off, I'm so sorry for your losses.

I can't speak from personal experience, but I have learned alot from a friend's experience.

She gave birth to a baby with Down Syndrome (he is now 7) and although her risk of having another child with DS was very high, they still went ahead and tried for another. They had a little boy without Down Syndrome.

My point is... just because the risk is high, does not mean that it will happen. In fact, in my friends case, iI believe it was more likely that she would have a healthy "normal" pregnancy and have a baby without DS than she would have had a baby with DS, BUT.. her chances compared to other people were still very high. Does that make sense?

It sounds like you're in such a hard place right now, I think you're doing the best you can with the genetic testing etc.,

(((hugs)))


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## 2boyzmama (Jun 4, 2007)

nak

i completely understand! my second son has a genetic syndrome, and my husband and i were faced with this decision. we both got tested with the agreement that we would sterilize if one of us had a chromosomal arrangement that caused it.

It was a very difficult decision, on one hand we love our son dearly and would never wish him away. Of course we wish he didn't struggle, any parent would wish that, but we've never wished we didn't have him. We didn't know in-utero that he had a syndrome, and if we had known, we would not have considered aborting.

So on the one hand, it felt a little...unfair? to our second son that we would make a deliberate decision not to bring another affected child into this world. But there's a lot more to it than that! It's the physical, emotional, financial burden...Connor receives a lot of therapies, has special state insurance, receives a lot of services FOR FREE, taxpayers are paying to raise my son. That's not something I take lightly!!

If I were to conceive a child that had special needs, I would never consider terminating, but I also would never knowingly take the risk of conceiving in the first place!!

It's very gray area...because what if we carried the deaf gene? Would we still choose to not conceive? Is deafness that big of a burden to our family and to society? I don't think so. But I think that my son's syndrome is. What about autism? What if we had a family history of autism? Would we choose not to conceive then? I don't know.

So we based our decision off of our family's ability to parent another special needs child, and then factored in the genetic test results to determine what to do. It turned out that my husband and I both have complete chromosomes, so our chances of having another effected baby were low (still increased, but low) We were unsure of what to do, when we conceived again accidentally. I had a lot of fear during my pregnancy, but my 1 week old is sitting in my lap right now, apparently completely healthy.

SO...I guess my point is that I understand your conundrum, but I don't think it's a black/white issue. Definitely meet with the genetics counselor and go from there. Know also that you do have the option of IVF with pre-implantation testing. That was not an option my husband and I were comfortablke with, but again it's an ethical gray area that you may feel different about.


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## alternamama82 (May 28, 2009)

Our daughter was born full-term in March and we didn't know about her condition until the day of her birth. She was diagnosed with Trisomy 18, which is similar to Trisomy 21, but the outcome is much more dire than T-21. She lived for fifteen days.

I do not have genetic mosaicism, and we have met with a genetic councellor on numerous occasions. He did not think further testing was necessary for us, as our daughter had a 'full' trisomy which means that every cell in her body contained the extra 18th chromosome, and it is not inherited the way a translocation is.

Our chances of having another baby with a Trisomy is higher than those who have not had a child with a Trisomy, but given my age (27,) it is more than likely NOT to happen again. Although yes, I always keep in mind that it is possible.

We decided that we would have more children. I am pregnant and due in April, and although I do worry about the chance of having another baby die, I'm really trying to work on my anxiety and take things one day at a time. Honestly, I would be thrilled to have any baby who will be healthy enough to come home with us, Down Syndrome or not. I just pray that it's not another fatal Trisomy.

It's a tough place to be, especially given your increased chance of having a DS baby because of your mosaicism. It's a personal decision - you need to decide whether or not a DS child is something you could handle. I know for myself, after having my baby die, NO chromosomal disorder could ever possibly be worse than losing my daughter (except another fatal condition!)

There is something called Preimplantation Genetic Diagnosis in which embryos can be screened for genetic disorders before they are implanted via IVF. I know this can be a touchy subject for some people because of ethics, but I don't know your stance on this. Here is a link: http://en.wikipedia.org/wiki/Genetic_screening


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## Vespertina (Sep 30, 2006)

I'm so sorry for your loss.







Many hugs, mama.









Our son had Ds. His case was 'worst case scenario.' There's a wide range when it comes to Ds. 40-50% are born with a CHD. Some do fairly well and others have more challenges. The severe cases are not as common and usually result in miscarriage or stillbirth. With our son it was heart problems. He had multiple heart defects. He went into congestive heart failure and passed away. That tends to be what is looked for when it comes to babies with Ds.

In our case it was not due to a translocation, which is where there's a hereditary link. It was just a random event at cell division. Honestly, our only hope with this pregnancy was that if this baby did have Ds that he/she not have severe complications. The Ds part didn't worry us. It was the condition of the baby. My risk only went up 1%, so nothing significant. I had the first trimester screening done and it was a screen negative. I still opted to see a perinatologist to have my diagnostic ultrasounds done to rule out any problems and for reassurance.

There's a mama that visits this board that has a daughter with Ds. Her screen name is Guinevere, I think.


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## Amy&4girls (Oct 30, 2006)

I am so sorry for your losses. And what a difficult situation for you-I'm sorry.


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## MySunflowerBoys (Nov 22, 2005)

Hi there!
I am so sorry to hear of your miscarriages! Losing a baby is just the worst, no matter what the reason.

I have 3 living children, the middle one has Down syndrome, and I had 4 losses. I didn't have genetic testing on any of my loses, so I don't know exactly what caused them.

There is some confusion on your understanding of Down syndrome (trisomy 21.) There are 3 types of T21:
1. "Down syndrome is usually caused by an error in cell division called "nondisjunction." Nondisjunction results in an embryo with three copies of chromosome 21 instead of the usual two." this is the most common type of Ds, and what my son has. It is not based on heredity.

2. "Translocation accounts for about 4% of all cases of Down syndrome. In translocation, part of chromosome 21 breaks off during cell division and attaches to another chromosome, typically chromosome 14. While the total number of chromosomes in the cells remain 46, the presence of an extra part of chromosome 21 causes the characteristics of Down syndrome." "The age of the mother does not seem to be linked to the risk of translocation. Most cases are sporadic-that is, chance events. However, in about one third of cases, one parent is a carrier of a translocated chromosome. The risk of recurrence of translocation is about 3% if the father is the carrier and 10-15% if the mother is the carrier."

3. "Mosaicism occurs when nondisjunction of chromosome 21 takes place in one-but not all-of the initial cell divisions after fertilization. When this occurs, there is a mixture of two types of cells, some containing the usual 46 chromosomes and others containing 47. Those cells with 47 chromosomes contain an extra chromosome 21. Mosaicism accounts for about 1% of all cases of Down syndrome." This is extremely rare.

It sounds like your mom believes you are a carrier for translocation Ds. Once you have been dx with this genetic trait, it is always a part of you and you do not outgrow it. Yes, this does increase your risks of having a child with Ds. Genetic counselors can tell you what your risk percentage is and can tell you what type of prenatal testing you can do.

I did not know prenatally that my child would be born with Ds, but would have welcomed him into our family had would known earlier. Our lives have been enriched by our child with Ds and he has brought more to us than we could of imagined. If it were me, I'd continue to try to create my family and welcome any child with love.


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## homeschoolingmama (Jun 15, 2007)

You could check out Downsyn forums to learn all about DS if you choose. It really is very informative. One day we hope to adopt a child with DS.
I am very sorry for your losses


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