Quad Screen Results - 1:2 Risk for Down Syndrome - Update 1/29

aceoffaith · January 2016

We got our quad screen results back last Friday and were told our risk for Down Syndrome was 1:2, meaning that there is 50% risk that our baby will be born with Down Syndrome. We have been referred to a genetic counselor where we will get a better explanation of the results and start the process for the MaterniT21 test. Our appointment is Thursday.

While this has certainly altered our sense of reality and expectations for parenthood, we are resolved to do the best we can for our child. Neither of us know anyone affected by Down Syndrome in our families or in our other social experiences. I was hoping that some of you ladies may know of some good resources for us to begin educating ourselves to help prepare for the possibility. We wouldn't get our MaterniT21 results for almost 2 weeks and I need to feel like I'm doing something productive with these results and gaining knowledge seems like the best way to do so.

UPDATE:

Thank you so much for all of your great resources after the first post! There are some great organizations out there.

We met with a Maternal Fetal Medicine Specialist and Genetics Counselor last Thursday. We had a level 2 ultrasound and did the blood draw for the MaterniT21 test. The doctor found 1 soft marker on the ultrasound, but told us that generally when they see mothers with my results (my inhibinA was over 4) it turns out to be placenta insufficiency rather than Down Syndrome. Either way, he told us that we would transfer to him as our OB for the pregnancy and we would be considered high risk for the remainder of the pregnancy.

We got the call today that the MaterniT21 test results came back negative for an chromosomal abnormalities, great news! There are no physical signs of placenta insufficiency, but they plan to monitor the baby closely with ultrasounds at every regularly scheduled appointment.

Thanks for the support! You ladies rock!

PugsandKisses · January 2016

1) call your insurance. They may be able to point you in the right direction as for clinical resources.

2) look up local support groups, and FB grouos. Those parents will have a plethora of information.

1) google DS organization (professional ones, not just blogs and such). They can help you through the process of diagnosis and potential treatment plans.

Also, I am sorry you are in this limbo stage. Hugs to you.

stillcozy · January 2016

^I agree with everything she said. Sorry you are having some anxiety over the results. Glad to hear you are doing a more conclusive test though. I agree to finding other support groups like on Facebook where you could talk to other moms and get some insight. As well as maybe researching highly reviewed books about it and then seeing if your library has any of them to read as well. My thoughts and prayers are with you during this waiting period!

LifeofLauren2 · January 2016

@aceoffaith I have a friend who has a 9 month old daughter with Down Syndrome. I messaged her. She said start with your local First Steps program. They are a great resource. She said she also read a great book that she highly recommends. She is at work and is going to message me the title when she gets home late tonight. I'll update this when she does.

megstervt · January 2016

It's a few years away, but contacting your local early intervention provider may be helpful for learning about that aspect of raising and supporting your child. If you don't know who provides EI services in your area, your local school district can point you in the right direction.

mswings1 · January 2016

I don't know any resources to help with raising a child with Down's syndrome but I did work for 6 1/2 years as an instructional assistant in special needs classrooms and had some Down's kids. If you wanted to spend some time with kids that have it you could see if the local school(s) would let you volunteer in those classrooms?

PhoebeJune1984 · January 2016

My thoughts are with you, while you wait. I think the waiting is the hardest part, but I agree with the PP....glad you are taking the next step for further testing.

My cousin's test came back with a 50% risk, and when they did the measurements at her 20 week scan, the length of his femur (and a few other things), also pointed towards Downs. She decided not to do extra testing. Her mom has worked with people with Downs for years, and she was exposed (gosh, saying it that way makes it sound like a disease or something, but how else do you put it?!), at an early age and felt prepared enough to handle whatever was going to be thrown at her. He was born three years ago, and does not have Downs.

At least with further testing, you will have more of an idea on what the outcome will be. ((hugs))

DominiqueU · January 2016

I have no advice, but I just wanted to stop in and say hang in there. It sounds like you're open to taking steps and making preparations no matter what the outcome. With that attitude, you'll get through whatever life throws at you.

And we're always here to support you in any way we can.

brielle330 · January 2016

I agree with @megstervt about early intervention- but NOT a few years away. I've worked in EI, and if this is your new reality- contact ASAP (right after birth!) They can provide services as soon as baby is here, including PT, OT and Speech (I'm a speech pathologist that has an infant feeding-heavy caseload. Children with Down syndrome frequently have difficulty with oral feeding skills from the beginning, and these people can be your lifeline!) Blessings to your family, no matter what happens!!

megstervt · January 2016

@brielle330 good call, I hadn't considered that! I work in EI a bit as a behavior analyst, but since my specialty is ASD I don't see kids until around 1.5 years at the earliest.

brielle330 · January 2016

@megstervt Ah! That's why I love my feeding kiddos! All of my ASD/language friends I have to wait to see until 18 months like you!! It's always nice to have a tiny little newborn to break up the day

keep fighting the good fight!

pourmeanothermocktail · January 2016

A very good friend of mine has a happy healthy daughter with Down Syndrome. Her daughter is 12, going to be 13 this year. I could tell 100s of wonderful stories about her. I won't right now - but PM me if you want to hear anything, and once you get your final results back, please feel free to reach out again/more. I could put you in touch with a few moms of children with Down Syndrome who have been there.

In the meantime, here are a few resources I can vouch for. I don't know what area you're in, but Gigi's Playhouse is a wonderful group who could put you in touch with local parents of and children with Down Syndrome.

https://gigisplayhouse.org/
https://www.nads.org/
https://downsyndromepregnancy.org/
https://www.ndss.org/

The waiting game is awful, I hope reading up helps you feel better (or at least prepared) and again, feel free to reach out. I am neither working nor a mom yet. Hang in there!

aceoffaith · January 2016

Wow! Ladies, these are fantastic suggestions. Thank you so much...I will update when we know anything and am really excited to check out all of the leads and ideas.

DobbysSock · January 2016

I hope you get some answers soon, one way or another! I don't have personal experience but I thought I'd share a story of a woman I know.

When I met her she had a 6 year old son, a 2 year old daughter, and a 6 month old son. Her daughter had Down's Syndrome. As she was low risk they had not done any testing and found out her diagnosis at birth. She told me she was devastated and overwhelmed at first, but very quickly her health care providers connected her with resources and support. She told me that her daughter brings a huge amount of love and joy to their family and they wouldn't trade her for the world. She was an incredibly sweet, funny, mischievous, smart little girl, and so adorable.

I don't know how helpful anecdotal stories are, so I'm sorry if that's not beneficial to you. I wish I had more concrete suggestions. I'm sure once you have more information, your genetic counselor will have tons of local resources to refer you to if it becomes necessary. Hugs and support to you - I'm sure this is stressful!

kayham12 · January 2016

@aceoffaith I totally feel for you. At our 20 week scan with DD she had a soft marker and we took the MaterniT21 test. I remember that two week wait and the sinking feeling in my heart when I found out that our baby tested "possible Turners syndrome" I declined further testing due to the risks. The genetic conselor we talked to was super doom and gloom. We were told to expect her to have all kinds of health problems, including mental retardation or severe developmental delays. She was born without physical symptoms of Turners and was confirmed with a blood test later on. She has a very rare form of Turners. I have learned a lot more than I have ever wanted to about chromosomes and genetics trying to learn everything I can about my daughters syndrome. My suggestion is to find a parent support group and read their stories. Doctors can tell you what the books say, but other parents will give you the glimpse of what it's like to raise a child with the syndrome. Those people are my inspiration and have lived what I'm going through.

cheezus · January 2016

Nothing to add but wanted you to know I'm thinking of you and hoping for the best

fleurdelakeview · January 2016

My younger sister has Down syndrome. My mother joined the local Down Syndrome Guild after she was born and they had a lot of resources available for parents and families, including things for expectant parents. They also had a lot of family activities, sibling groups, etc. She was involved with them for a long time and found them very helpful. The most helpful part of that group was all the families and parents that had been there and could share their experiences. I would suggest seeing if there is a local chapter near you and connecting with them if that seems agreeable to you.

BostonBaby1 · January 2016

It sounds like you have a lot of good resources. You may want to also look into a high-risk OB also known as a maternal fetal medicine specialist (MFM). Often times, they want to watch babies with downs much more closely and possibly deliver in a hospital equipped to handle any potential medical issues that may arise. Hopefully you won't need that resource, but it would be good to have it set up if you do. Sending lots of thoughts and prayers your way.

MrsRo731 · January 2016

Sending lots of positive vibes your way while you wait on the results. My cousin has Downs and is really an inspiration to me; he has such an amazing view on life. I definitely recommend finding your local Down Syndrome Guild and speaking with other families to get a better understanding. Hang in there, mama.

jlgriff11 · January 2016

I would like to applaud you on seeming to have such a positive attitude about it already. Kudos to you.

aceoffaith · January 2016

Update in original post.

Nerdchild · January 2016

That's great news @aceoffaith!!

PhoebeJune1984 · January 2016

Great news!

thebigoaktree · January 2016

Great news!

blissylissy86 · January 2016

So glad!!!

Weville · January 2016

That's fantastic news!

sboston06 · January 2016

Great news

Sounds like you are in good hands!

Puddles03 · January 2016

Wow, that's great! I am glad that there were no chromosomal abnormalities but I am glad they are willing to monitor you closely throughout your pregnancy.