Down Syndrome and Testing?

J3nn1f3r7 · February 2014

My husband's sister had down syndrome, she was the first born. His parent's didn't keep her saying costs were too much. It made me really sad to hear this. I was also concerned it might be in his genes, but after a lot of research I realize it is not necessarily a hereditary trait, its very rare if it is. I am not sure if they know which it was. Honestly to me it doesn't matter. Of course, I want a healthy baby but that doesn't influence whether I would keep my child or not.
My issue is he told his parent's the other day that I'm pregnant and their first comment was about me getting tested because I am at higher risk (Which now I know isn't necessarily true). It really bugs me that they are so judgmental! I had a sonogram and checkup on Tuesday and I denied the screening for things like downs. To me, I really don't need to know and the screenings aren't the most accurate.
I guess I'm not really asking a question here, more like ranting about my in laws!

kibylou · February 2014

They aborted her or gave her up for adoption? Just wondering...

J3nn1f3r7 · February 2014

Adoption. I think they expect me to abort if I found out I had a high risk. Some of their opinions really aren't welcome!

MrsSinner402 · February 2014

kibylou said:

They aborted her or gave her up for adoption? Just wondering...

She said she was the first born, so I'd assume adoption. So sad.

LEP424 · February 2014

Knowledge is power. I view screening as a opportunity to research everything necessary (ahead of time) if we were to have a child with a cognitive or physical impairment. I would want to have interviewed therapists (OT, PT, SLP) ahead of time to ensure my LO had all the possibilities the world had to offer them. Agreeing to screening doesn't mean a person would change anything about her pregnancy.

miss.brittany · February 2014

When my mother was pregnant with me her ob/gyn did the testing and told her that I had Down Syndrome and then gave her a pamphlet on abortion and asked her when she'd like to schedule it (how insensitive right!?!?). My parents chose not to abort me and I was born completely healthy and I do not have Down Syndrome. So they definitely can be wrong!!

Edit* spelling

MagentaMouse · February 2014

Even though you wouldn't do anything differently if the baby had Downs and you're probably not at higher risk, I would at least consider getting the testing. Babies who have Downs can have more complicated births and can need extra help becoming stable once born (for heart reasons, lung reasons, etc.) and it's just a lot safer if the medical team is aware before the baby is born so that they can take the best care of the baby. Just something to think about!

J3nn1f3r7 · February 2014

I will think about screening. I denied with my normal OB but I'm being sent to a high risk Dr. hopefully within the next week or two and my original OB said the high risk Dr. would probably offer it again so something to think about. (High risk for blood clotting/Factor II). Thanks everyone

I definitely want to do the best for my child. Unfortunately my husbands mindset has been warped by his parents but I know its because he doesn't understand options. I'm in the early childhood field so I have a better understanding to begin with.

megsandjohn · February 2014

We declined the Downs screening for our first two.

But with our first, we ended up finding out at 20 weeks that his left arm didn't fully develop. It was very stressful and the doctors put a lot of fear into me and pressured me to switch from my midwife to an OB. I almost wish I didn't know because they then considered me high risk and I had so many extra appointments. He was a healthy baby and did not need surgery (they were concerned his bone would be exposed, which it wasn't).

On the other hand (ha! Excuse the pun) it gave us a chance to adjust to his difference which might have been difficult finding out at birth. Although there was no name for it and we weren't able to get much support during pregnancy until I found an online support group. Until then, trying to research it myself just made me even more anxious.

The worst part was when the doctor asked me if I wanted to discontinue the pregnancy. I was horrified! How could I end my baby's life just because he didn't have a hand????

So my son was born without a left hand and his left arm is amputated below the elbow but it hasn't held him back in any way. He is so active and determined, plays hockey etc and has proved everyone wrong who has doubted his abilities! He is just amazing and I feel so blessed to be his Mommy.

ETA:
Btw I wrote a blog about our journey and to encourage other parents who find out similar news during pregnancy.
Http://Onelittlefin.blogspot.com

Schell2013 · February 2014

At my 10 week appointment the nurse and I had this discussion. She said really if I am young and healthy there is no reason to test. She also said that the test isn't as accurate as you would think and it can be wrong either way. So even if everything comes back ok it may not be and vice versa.

So knowing the testing isn't overly true I opted out. For us it wouldn't matter if we kept our baby or not even if he or she was born with down syndrome.

archi35 · February 2014

I think the testing just gives you the opportunity to plan appropriately. I would think there are so very many things that change with a special needs child, and you would be doing a disservice to the child if you did not give yourself the most time possible to prepare. Understandably people's opinions are going to vary and its always disappointing when family is not supportive. But if the idea is that this child is welcome and loved no matter what, then I think you should prepare as best possible for them.

eredee · February 2014

With my first pregnancy, I has the testing done. Didn't come back with good news..however I too read about how the testing was always wrong and how you shouldn't rely on just one test. I even had people here on TB say that the tests were sometimes in accurate. But with mine, it wasn't just one test. They did the screening, drew blood and it didn't come back good. They referred me to a maternal fetal medicine doctor at the hospital where I had 2-D ultrasounds, and an amino done to confirm, and it wasn't good. My doctor just didn't suggest termination based on the first screening. I agree with others on here, knowledge is power and the more you know the more you and your doctors can prepare. Whether that preparation is getting yourself ready to have a baby with special needs or making the decision to let your baby go. Also, I was 28 with absolutely NO risk factors for any genetic abnormalities, so even at low risk I would always suggest the screening.

Greenmood · February 2014

My husband's brother has Down Syndrome. He's a lovely person who gets along in the world, incredibly charming. However, this fact and several other "red flags" in my husbands family tree are enough that the midwife is recommending a consult with a Geneticist who can help us sort out what's inherited and what's just the luck of the draw, and who can explain our testing options.

I see zero problem with this.

Having spoken at length with my MIL over the challenges of raising a special needs child (plus my own experiences on the medical side), I understand the value of appropriate planning.

OP - your in laws are coming from a perspective you don't yet (and may never) truly understand, although since you say you have experience in early childhood I would hope you can at least empathize. What you consider judgmental may be their expression of their own fears, based on experience. Framing it that way might help you tolerate their concerns more easily.

fireflyrebirth · February 2014

There was a story on NPR about a "new genetic screening" but they didn't actually name the test. I assumed they were talking about this test though?

https://www.npr.org/templates/story/story.php?storyId=283117669

femail · February 2014

We were offered this test at our appointment yesterday, but turned it down. If you had the test and it was positive, would you do anything different? We wouldn't have, so it didn't make sense for us to test.

raynes · February 2014

LEP424 said:

Knowledge is power. I view screening as a opportunity to research everything necessary (ahead of time) if we were to have a child with a cognitive or physical impairment. I would want to have interviewed therapists (OT, PT, SLP) ahead of time to ensure my LO had all the possibilities the world had to offer them. Agreeing to screening doesn't mean a person would change anything about her pregnancy.

I don't think that I could agree with this any more.

For us, we chose to go through with the IPS (integrated prenatal screening, includes both the NT scan and 2 rounds of blood work several weeks apart) so that we could be fully prepared for anything we might have to face.

MrsSarahRenee · February 2014

@femail I was offered it today to make an appt. I would do a lot different. I would read books on raising a downs baby, I would find a recommended pediatrician, I would set up early intervention professionals etc.

I completely understand not wanting to test, but I can also see why people with no plan to terminate would test also. A riskier pregnancy and more challenging parenting lifestyle is something I would want to prepare for.

amandacaffrey · February 2014

LEP424 said:
Knowledge is power. I view screening as a opportunity to research everything necessary (ahead of time) if we were to have a child with a cognitive or physical impairment. I would want to have interviewed therapists (OT, PT, SLP) ahead of time to ensure my LO had all the possibilities the world had to offer them. Agreeing to screening doesn't mean a person would change anything about her pregnancy.

Totally agree with you here. We opted for the 11-13 week u/s that measures the neck but in no possible scenario would we abort/put up for adoption. We also denied further screening/amino for risk factors fyi

Raesofsunshine1 · February 2014

Can we save this conversation for when more people hit the 12 week mark? This will be asked approximately 1 million times and I think all the viewpoints were covered nicely in this thread.

vrj0522 · February 2014

Wow, I'm so sorry you had to deal with this!

Sofia2529 · February 2014

LEP424 said:
Knowledge is power. I view screening as a opportunity to research everything necessary (ahead of time) if we were to have a child with a cognitive or physical impairment. I would want to have interviewed therapists (OT, PT, SLP) ahead of time to ensure my LO had all the possibilities the world had to offer them. Agreeing to screening doesn't mean a person would change anything about her pregnancy.

I agree. Many people also forget the test screens for other conditions far more serious than Down Syndrome.

AlliBalleza · February 2014

LEP424 said:

Knowledge is power. I view screening as a opportunity to research everything necessary (ahead of time) if we were to have a child with a cognitive or physical impairment. I would want to have interviewed therapists (OT, PT, SLP) ahead of time to ensure my LO had all the possibilities the world had to offer them. Agreeing to screening doesn't mean a person would change anything about her pregnancy.

Agreed absolutely.

chucktgirl · March 2014

megsandjohn said:
We declined the Downs screening for our first two.

But with our first, we ended up finding out at 20 weeks that his left arm didn't fully develop. It was very stressful and the doctors put a lot of fear into me and pressured me to switch from my midwife to an OB. I almost wish I didn't know because they then considered me high risk and I had so many extra appointments. He was a healthy baby and did not need surgery (they were concerned his bone would be exposed, which it wasn't).

On the other hand (ha! Excuse the pun) it gave us a chance to adjust to his difference which might have been difficult finding out at birth. Although there was no name for it and we weren't able to get much support during pregnancy until I found an online support group. Until then, trying to research it myself just made me even more anxious.

The worst part was when the doctor asked me if I wanted to discontinue the pregnancy. I was horrified! How could I end my baby's life just because he didn't have a hand????

So my son was born without a left hand and his left arm is amputated below the elbow but it hasn't held him back in any way. He is so active and determined, plays hockey etc and has proved everyone wrong who has doubted his abilities! He is just amazing and I feel so blessed to be his Mommy.

ETA:
Btw I wrote a blog about our journey and to encourage other parents who find out similar news during pregnancy.
Http://Onelittlefin.blogspot.com

Hi Megs, does your son have symbrachydactyly? Have you checked out the Lucky Fin Project? A friend of mine started it and I know a lot of parents of kids with limb differences have gained from it. Just throwing it out there!

Dubsgirlie · March 2014

femail said:
We were offered this test at our appointment yesterday, but turned it down. If you had the test and it was positive, would you do anything different? We wouldn't have, so it didn't make sense for us to test.

I couldn't handle the false positives!!!! Pregnancy is hard. Even harder when you think there's something wrong with your child. My DS had a cyst on his brain between 19-26 weeks in utero - it was hell! He's fine now and it's completely gone, but I can't imagine a test telling me that my child "might" have something. My sister had the test for her first and again, a false positive for DS. Obviously she opted out the second time.

Also, maybe I'm a little biased because I'm a speech pathologist that works with special needs individuals and my husband is a social worker - we know pretty much all there is to know about services.

AggieBeth06 · March 2014

fireflyrebirth said:
There was a story on NPR about a "new genetic screening" but they didn't actually name the test. I assumed they were talking about this test though?

https://www.npr.org/templates/story/story.php?storyId=283117669

This is a follow up:
https://www.npr.org/blogs/health/2014/02/26/282095202/blood-test-provides-more-accurate-prenatal-testing-for-down-syndrome

Quote: (CAN SOMEONE PLEASE TEACH ME HOW TO USE FORUM CODE TO QUOTE FROM ARTICLES?)
"The test's "positive predictive value," which is its ability to accurately predict whether the fetus has Down syndrome, was 10 times greater than standard testing, the researchers reported (45.5 percent compared with 4.2 percent). The standard testing produced 69 false positives for Down syndrome. The test was similarly more reliable for a related condition known as Edwards syndrome."

megsandjohn · March 2014

chucktgirl said:

Hi Megs, does your son have symbrachydactyly? Have you checked out the Lucky Fin Project? A friend of mine started it and I know a lot of parents of kids with limb differences have gained from it. Just throwing it out there!

Nope it's not symbrachydactyly. Just a random limb difference that doctors are unable to explain. It wasn't caused by Amniotic Band Syndrome either.

But thankfully, I'm very familiar with the Lucky Fin Project! Our whole family has a lucky fin bracelet and Molly even made a tiny little pink one for my daughter when she was born

Thanks for mentioning it!

chucktgirl · March 2014

megsandjohn said:

Hi Megs, does your son have symbrachydactyly? Have you checked out the Lucky Fin Project? A friend of mine started it and I know a lot of parents of kids with limb differences have gained from it. Just throwing it out there!
Nope it's not symbrachydactyly. Just a random limb difference that doctors are unable to explain. It wasn't caused by Amniotic Band Syndrome either. But thankfully, I'm very familiar with the Lucky Fin Project! Our whole family has a lucky fin bracelet and Molly even made a tiny little pink one for my daughter when she was born Thanks for mentioning it!

Yay! It makes me so happy that she has touched so many people's lives in such a positive manner. I marvel at her determination. I'm so happy you found the LFP. I also wear my Lucky Fin bracelet-- in my university's colors, green and white!

flyinmommy · March 2014

I didn't in my first three pregnancies but the tests are better now and knowledge can be power for some and anxiety for others. It's a tough personal choice.

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