Trying to figure out what to do

amandaluv5 · July 2015

so I did the genetic screening and my baby had tested positive for Down syndrome we went to the hospital here that does the further testing by the ultrasounds.. Everything on my ultrasound scan showed normal no signs for Down syndrome but here where I'm trying to figure out what to do... They said that I could do the test for amino testing but it's can cause a miscarriage.. I will raise this baby no matter what and love him with all my heart regardless.. So I'm not sure if I want to do the test because at 38 weeks i am going to be getting induced only for medical reasons and they will be doing the amino testing then.. I'm going through this pregnancy alone and making all my choices alone because the man I'm pregnant by is impossible to talk to we are not together.! I just want advice from other moms what would u do..??

kristen2b · July 2015

What do your Drs say?

amandaluv5 · July 2015

this is why I'm confused.. Chances of miscarriage is 1-400 for this test, not only that but they said the ultrasound is only 50/50 some babies can still be born with Down syndrome even if the ultrasound is normal.. Ugh I just want to know what to do this is why I didn't want to do this alone.. These decisions I have to make on my own are hard

helen76d · July 2015

If you wait until 38 weeks to get that amio do you feel like that would be enough time to prepare yourself if the baby has downs?

amandaluv5 · July 2015

Even if the baby has Down syndrome I'm gonna love him no matter what and my ultrasounds looked normal... I'm just torn right now

rmj28 · July 2015

First of all, what screen did you have?

I did a quad, then Verifi, then amnio to diagnos Doen syndrome about two weeks ago. His ultrasounds show no markers.

Have you met with an MFM? A genetic counselor? What does your Dr say?

Screenings are just that. Your screening may show an increased risk for Down syndrome but the only diagnosis is through CVS, amnio or after birth.

I chose amnio, after reviewing my doctors statistics with amnio and made the decision so I could prepare to be the best parent I can be.

Amnio at c-section has me confused. Amnio is amniotic fluid being tested after drawn through a needle from your uterus, usually in the second trimester. They would be able to diagnose DS at birth without - until it came time to process social security at which time they require karotype testing - similar - in that the chromosomes are counted but it's not amnio.

In addition, now that we have the diagnosis, we have regular ultrasounds and echocardiogram see how our son is developing and if he may need immediate care at birth as heart defects and other problems are more common with Down syndrome children.

Let me say that I'm not trying to scare you. I was in your shoes and I understand. And I wish someone told me the facts and didn't just hold my hand.

Also, Down syndrome is not as bad as the stigma. Yes, it can come with extremely scary things like heart problems.

I'm glad you will love your child the same either way. And the choices you make are yours but be sure to have the facts.

My husband and I are positive about the diagnosis and we are excited to meet our son, as I'm sure you are!

Feel free to PM me.

Edited for clarity.

amm0512 · July 2015

The risk of miscarriage caused by amniocentesis is about .7%, so if you are considering the test to get a definite yes or no for DS, you need to evaluate if that is an acceptable risk for you.

One of the benefits of knowing for sure is you will be able to plan if you need to give birth at a hospital with resources for children with special needs. That being said, babies are born with all the time with abnormalities that were not previously detected, so the hospital will get your baby any additional help it would need if they were not able to provide it.

The 20 week anatomy scan will also look for markers of down syndrome, so if you don't feel comfortable getting an amnio now, they can detect later on too. Good luck in your decision!

dec15mum · July 2015

Thats such a tough one, I'm glad you say you'll raise and love it anyway- my mother works a lot with Down syndrome children and she always says they are the happiest kids she met.
Honestly the decision is yours, you're not going to make a wrong decision because it's what you think is best.
my advise would be to research it a bit, sleep on it for a few days, if you can find someone you trust to talk to and only do what you feel comfortable doing.
I wish you and your baby all the best *hugs*

Mizuiro007 · July 2015

I'm so sorry you're going through this. To me not knowing would be hardest. I suggest enough just hoping my son doesn't have Tourette's syndrome (50/50 chance with each child since I have it).

I have known a couple people that had the testing done and were told the baby was positive for down syndrome markers, then had the baby and there was no down syndrome or it was much less severe than doctors had predicted.

If it was me, I'd be wanting to get information to prepare and hope I don't need it. Sometimes the bank can help make suggestions to set up for financial needs in the child's future. Also look at programs and schools available in the area, even if there are special parent groups.

I'm the plan for everything type though. I'd rather have it and not need it than need it and feel more stressed trying to scramble around getting it together. I hope this helps.

It sounded like they're wanting to do the amino around the same time you'll be induced? Unless they will want to anyway because of inducing a little early, I would wait and find out at delivery. Back 30 some years ago my mom was scheduled to have a c-section with my brother at 39 weeks so they did an amino a few days before to check his lungs.

amandaluv5 · July 2015

So I went to the hospital here in iowa that works with all special cases and so on.. They gave me my risk and everything.. We had a long talk.. My chances of having a baby with Down syndrome is 1 out of 10 then we did my ultrasound and they said everything looked completely normal. But just cause the ultrasound looked normal there could be a 50/50 chance that he could still have it.. I don't have anyone here holding my hand I have gone through my facts done complete research spoke with the genetic counselor and I'm just stuck..!

caitlyn5454 · July 2015

If you'll love your baby regardless of whether or not they have DS, are you willing to risk the possibility of miscarriage to find out? If I was in this situation, I would probably decide to go for the amnio and prepare myself for the chance that the baby will have DS until I knew. Talk to mothers of children with it, read up on any special care he/she might require, and pull together a support group from your doctor, family and friends to talk to about any concerns you may have about raising a child with DS on your own. Good luck with whatever you decide to do!

*edited for autocorrect

amandaluv5 · July 2015

They have to do the amino testing at 38 weeks to make sure his lungs are fully developed before they induce me that's why they want to do it then.. But my scheduled testing is for this Tuesday in which I will be 18 weeks 3 days and I'm just really scared part of me wants to know the other part wants nothing to do with knowing I just want to see my baby.. I know the risk of having a baby with Down syndrome and those are my only fears is my baby being sick..!!

rmj28 · July 2015

amandaluv5 said:
So I went to the hospital here in iowa that works with all special cases and so on.. They gave me my risk and everything.. We had a long talk.. My chances of having a baby with Down syndrome is 1 out of 10 then we did my ultrasound and they said everything looked completely normal. But just cause the ultrasound looked normal there could be a 50/50 chance that he could still have it.. I don't have anyone here holding my hand I have gone through my facts done complete research spoke with the genetic counselor and I'm just stuck..!

I understand that.
And yes, only 50% of children with DS have soft markers.
What screening did you have? The quad is the least accurate, where Harmony, Verifi and MaternT21 tend to be more a accurate.
Remember, 1 in 10 means you have a 9 in 10 chance of a child without a chromosomal abnormality.
Amnio is your choice, 100%. It was important to me to meet the doctor and review her statistics for miscarriage before the procedure. It was also important to me to have a diagnosis rather than wait. I understood the risk and chose to do it. And I would do it again given the same circumstance.
Regardless, I'd love my son the same, but I feel like a better parent, more educated now than I would have been if I hadn't known.

rmj28 · July 2015

I forgot to add that with the diagnosis we are better able to track any structural problems my son may have to prepare if he would need medical intervention. THAT is ultimately what swayed my decision to get the amnio. It could save his life at birth.. Or it may not be needed. Again, not every situation is the same. I'm just trying to explain that I was in your shoes and why I made the choices I made. Again, it's up to you.

Edited for clarity.

Mizuiro007 · July 2015

If you don't have family and friends available for support, you may be able to find someone else. A therapist may be helpful, find a parent group (some might let you join in your situation to provide the support you need), even a patient rights advocate might help.

A quick search brought up
https://www.nads.org/
They might be able to help more with resources and their website has a place listing local support groups.

herewegrow · July 2015

So many prayers to you going through this. I would want to be prepared as well and make sure I was getting the most appropriate prenatal care if baby does have different needs. I would do the amino now and plan accordingly from there. Best of luck!!

Marchmellow2 · July 2015

I'm sorry you're going through this. I had an amnio done at 17 weeks because my matenit21 screening came back positive for Trisomy 13. So an amnio was a necessity in my case. Since trisomy 13 is incompatible with life, I pretty much HAD to know. I checked with the doctor (MFM) that would do my amnio and he had zero miscarriages from doing amnios for 12 years. That was good enough stats for me to choose him to do my amnio. My amnio went well and my results came back negative for all trisomies.

Like others have suggested, ask the MFM doc that you're referred to what their miscarriage rates are. If they're too high for you, keep asking around and find a MFM doc that can do it that has the best mc rates.

If you want my opinion, I think you should do it, just find the best MFM to do it. It's better to be prepared for yourself, babies health needs and to have peace of mind during the rest of your pregnancy.

I would take up @beccachartier offer and pm her since she's been through this and she can be a good support. Sending you lots of love and comforting thoughts through this time. I admire your strength for doing this alone. I couldn't imagine going through all this alone...((((HUGS))))

amandaluv5 · July 2015

Thank u ladies and I think I made me choice to go through with it on Tuesday just because I feel like I need to know at this point for medical reasons.. I just feel lost going though this alone..! I wish men didn't suck so much at this point

Cmagno · July 2015

No advice but big hugs and you're an amazing momma! I'm a speech therapist and love working with children with Down's Syndrome, they really are always so sweet and loving! Prayers for you and baby!

AlejandraN2 · July 2015

I think you made the right decision. Good luck to you and praying you get good news. Can a friend or family member go with you? Any support you get will help a lot.

nik6499 · July 2015

Good luck, I also totally agree with your decision and would make the same decision for myself. amnio is a really old test and has come along way and the miscarriage rates are drastically lower than before. Every clinic actually posts their miscarriage rate for you to review as well.

weasleyB5 · July 2015

This happened to my cousins - they were given a 1 out of 27 chance their baby would have Downs! They were going in for the amino when another Dr. looked at it and said not to do it - baby was perfectly healthy. They went through 2 weeks of what you are going through. While I know this may not be the case for you, I definitely suggest you go for a second opinion. I don't know much about how this works I just believe it's important to talk to another Dr. first. Good luck with your baby! No matter what you will love it unconditionally and it will all be okay. ❤️

kepoole · July 2015

amandaluv5 said:
Even if the baby has Down syndrome I'm gonna love him no matter what and my ultrasounds looked normal... I'm just torn right now

I wouldn't do the amino. I would just do my own research on downs and caring for a child with downs and just be prepared for that scenario and then happily surprised if no downs!!

BostonBaby1 · July 2015

nik6499 said:
Good luck, I also totally agree with your decision and would make the same decision for myself. amnio is a really old test and has come along way and the miscarriage rates are drastically lower than before. Every clinic actually posts their miscarriage rate for you to review as well.

I agree with this and I feel that you have gotten some wonderful advice from women that have been through what you're going through. If it were me, I would definitely want to have the test done so that I can be prepared at birth for whatever needs the baby has (particularly if they may be emergent.)

Please know that I am sending lots of prayers and (((hugs.)))

amw2133 · July 2015

BostonBaby1 said:

nik6499 said:
Good luck, I also totally agree with your decision and would make the same decision for myself. amnio is a really old test and has come along way and the miscarriage rates are drastically lower than before. Every clinic actually posts their miscarriage rate for you to review as well.
I agree with this and I feel that you have gotten some wonderful advice from women that have been through what you're going through. If it were me, I would definitely want to have the test done so that I can be prepared at birth for whatever needs the baby has (particularly if they may be emergent.)

Please know that I am sending lots of prayers and (((hugs.)))

I'm going to second this. I think that @nik6499, @Marchmellow2, and @beccachartier all have excellent advice. I think that your decision to go through with the amino is great. I'm sending you lots of love and hugs. Please keep us posted.

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