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363110 tn?1340920419

To remind mommies of this forum

For anyone undergoing genetic testing or if you have questions feel free to ask me. I've been through  it twice (yep i'm under the 35 age for this forum, only 23) but my oldest son has down syndrome, youngest is "typical".....

I've also got a journal that might interest some of you.   There are NON invasive tests (Level 2 U/S, Fetal Echo, blood tests), and invasive tests (amnio. CVS)

A reminder: The blood tests are not positive or negative and only indicate a risk number for you. my current (and forever) risk will be 1:100.... and I'm fine with that number. :)

TTYL or hop on over to the preg 18-34 if you wanna find me!

Cindie
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363110 tn?1340920419
Bump again. This post is for those dealing with worries or possible positive test/amnio/ultrasounds..... or higher risks.
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363110 tn?1340920419
Bump for any new mommies with questions.
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363110 tn?1340920419
I agree with pertykitty, it sounds like your baby is healthy and fine. a 1.3mm is SMALL and normally a reading or 3 or 4 or higher indicates higher risk. remember the blood test is not always accurate and isn't positive or negative it's only used along with your NT test to indicate your risk numbers.

Thanks for the compliments, my little boys are my pride and joy. It's normal for new mom's to worry and believe me your always gonna have new things to worry about with your baby during your pregnancy and when he/she comes into this world... you'll worry about how your doing as a mom, how baby is doing, if he/she will grow up to be a good person, he/she eating stuff off the floor, lol.... it's life and it's meant to be enjoyed even if the baby has a health or genetic problem.  my lil guy has put a dog toy in his mouth before (i kinda just laughed because I know he COULD be eating much worse stuff and I took it away from him).

Keep me updated on how baby is and how your pregnancy goes please! I love seeing new babies and following mom's pregnancies because each is unique and different even if the outcome is the same.

pertykitty~ you too! lol, keep me updated. (i'll get you those pics tomorrow, sorry it's taken so long!)

TTYL, I'm gonna go snuggle with hubby and the boys.
Cindie
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Avatar universal
i have to say with your measurments and ratio it sounds like you have a perfectly healthy little baby.  i would just relax and enjoy your little bundle!
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Avatar universal
Thank you so much Cindie for all that important information.
I just got my results back from my doctor....1:85 for  DS this is only based on my NT scan for babies neck  fluid measurements which was 1.3mm.
Just waiting on the blood tests to come back now.
I'll check out that site but I'm sure  that I don't have to worry as much now.
I have read your profile and you are an amazing mum.Wonderful photo's too.
Thank you so much for getting back to me,it seems to be every new mothers worry.
You are very kind hearted and very blessed.
Kindest regards Erina
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363110 tn?1340920419
hi! sorry it took me so long to get back to you, I've been gone a few days.
First of all CONGRATS!

Babies with DS can have a nasal bone so it's possible. According to this site:

http://www.cdadc.com/ds/downsyndromepregnancysymptoms.htm

(I copied and pasted it for you)

According to a research report published in Lancet (2001;358:1665-67), 701 high risk fetuses at between 11 and 14 weeks gestation had ultrasounds. In 73% of Down Syndrome ultrasounds, the nasal bone was missing; the other 27% of Down Syndrome ultrasounds showed a nasal bone.

In terms of the normal fetus population, the nasal bone can be detected via ultrasound 99.5% of the time.

So if it is missing from the ultrasound, it is almost certain the baby has a chromosomal abnormality.

~~~~~~~~

so if the baby has DS most of the time he or she will not have a nasal bone present.

There are other markers they look for like size of the head and body compared to the length of the bones in the arms and legs, the NT as you mentioned and heart problems.

Just so you know, when I was 12w pregnant with my 2nd son we couldn't get a NT scan because of his position, lol. he was being stubborn about it however we did see a nasal bone also and all his other measurements were ok (he was born "typical")

If you have any other questions just post it here, and if you feel they're too personal feel free to send me a private message. (nothing is too personal for me to answer publicly, lol I'm a very open person)
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Avatar universal
Hi Cindie.I'm just wondering if you can please answer a question for me please if you can.....
I had my 13 week nuchal scan on friday and we saw a nasal bone.
Do babies with DS have a nasal bone????
Just I read somewhere that they do not have one.
I'm very unsure what to believe,even the lady doing the scan told me 'great I can see a nasal bone,good news for you'.That was her only comment as measurements for folds in the back of babies neck where hard to do due to babies body position.
If you can answer that for me I'd really appreciate it.
I'm high risk for DS as I'm nearly 45yrs and 14 weeks pregnant.
I will be seeing my doctor this week but it would be great to get any answers you might be able to share with me.
With many thanks   Erina
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363110 tn?1340920419
Bumping, I'll be bumping it each day
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363110 tn?1340920419
oh and I forgot to mention PerkyKitty~ After the OHS (Open heart surgery) they eat AMAZINGLY well! You may very well have problems with her being a 'sleepy baby" and not eating alot, it may require work BUT once she has her ohs it'll change everything.

Before OHS it took TJ 45min to eat 2oz, after.... he ate 2oz in 5 min his first feeding post op and it was AMAZING. I've just gotten my computer back and have compiled a list of pics after ohS so moms know what to expect (baby will be on a vent, etc.) and so they can kindof desensatize themselves. so If you want message me your email addy and I'll email you the pics I have got. (I'm working on it for another site of mine... there is a board there with about 20 moms who have kids with DS or are pregnant with a baby with DS. I messaged it to you it's the "center" board) (i can't post it on here they'll delete my post)

Cindie
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363110 tn?1340920419
blueeyes~ TJ was born 5w early due to no fluid. He spent 1 mo in NICU due to his VSD/ASD which was huge and required surgery (long story, we had an especially hard time due to some rare complications)

PerkyKitty~~ it all depends on the health issues the baby is born with. Some are born ok and keep their temp and weight up fine, others like TJ have harder times and can't keep weight on right or keep their temps up. By the way if surgery is done it's done usually when the baby has failure to thrive and stops putting on weight usually by then the meds aren't working well enough.

Some mommies go full term and baby goes right home, it seems a 2 or 3w is the average for those with health issues.

The GOOD thing about surgery is they don't remember the pain, they forget about it because they are babies or YOUNG toddlers when it's done. They treat the pain while in the hospital and send them home on tylenol and ibuprofen.  

anytime you have questions, and if you would rather message me than post on a public forum just send me a message, you know I'll reply.

TTYL
Cindie
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Avatar universal
well my little girl has an asd and vsd.  (holes in the upper and lower parts of the heart).  she will need surgery after she is born, but i guess they wont know how long months, ect.  i cant imagine how it must feel for a baby to be away from mom, to have pain, the other kids emotions towards it.  

is there an average to how long they are in the hosp?  i really know the answer must be "it depends" but i feel a bit needy for answers today.  

the good news is i am going to deliver at the hosp and with the dr i really wanted.  i am being referred and will start steriod shots in a few weeks for her lungs due to my preterm baby history.  she is a cutie though!!
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725941 tn?1297882209
Thank you for your response!  No other questions at the moment, I think I'll have to wait until my next appt on the 17th with the placenta specialist to see what they say.  I already know that they want me to deliver early, at least 3 weeks maybe more depending on how the baby is growing and if the placenta is provinding enough nutrients for my little man to get nice and strong lol!  After 26 weeks I'll have to go in for u/s's every 2 weeks to monitor my progress.  You've certainly given me alot of information and I'm extremely thankful for that!  Here's hoping that things just keep on moving right along they way they should be.  Hopefully the placenta will have moved up and I won't have to worry about the spotting anymore!
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363110 tn?1340920419
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363110 tn?1340920419
Well CONGRATS MAMA!!!

at first a 1:16 chance sounds fairly high, however since your U/S's have not shown any markers for down syndrome I think it's safe to assume your LO doesn't have it.

You can always ask for a fetal echo to see if your baby has any of the heart issues associated with down syndrome, but I think your safe.

If you really worry, then you can always get the amnio (it can be done at any time during the pregnancy after 16w)

to me it sounds like it's the placenta that's causing your higher indicated risks, not the baby itsself.

any other questions?
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725941 tn?1297882209
Thank you for posting this!  I'm 35 and my quad screen came back with a 1:16 chance of down's.  I don't know what to think.  I've had 3 very detailed ultra sounds (I'm now 21 weeks, last one was at 18 weeks) and none of the u/s showed any of the markers that they would look for.  They said that either those are the real odds for down's or that the placenta isn't as healthy as they'd like it be and that could be causing the high risk number to come through showing as the odds for down's.  Any ideas or suggestions would be very helpful!

Thank you and take care :)
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363110 tn?1340920419
Pertykitty~ aww thanks! :) I heart you too your a great mommy and your gonna be a great mom to your little girl!

Adgal~ thanks! :)
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377493 tn?1356502149
Welcome Cindie!!!  No worries, we have lots of "underage" members here..lol.  All are welcome.  And I know you are a bit of an expert when it comes to these tests.  I am glad to see you posting here and I know many of our other members will find your info really helpful!!  Thanks so much for joining.  Amanda
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Avatar universal
cindie is a smart cookie!! she has been so helpful to me.  the what ifs are scary but she has a way of helping you to understand so it isnt scary.  i heart her!
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