Jump to content

High risk downs
Worried due to high risk for downs


  • Please log in to reply
11 replies to this topic

#1 LouF1

Posted 02 July 2013 - 06:44 PM

Hi ladies

I hope I'm writing this in the right place, you all seem to know what you're talking about so I'm hoping someone can give me some advice?

I had my 12 week scan and the sonographer said everything looked in order.
NT was 2.00 mm
nasal bone was present.

My maternal serum biochemistry increased my risk to 1/120 risk of downs.
Free beta hCG: equivalent to 1.7000 MoM.
PAPP-A: equivalent to 0.4300 MoM.

I'm 37 and this is my first pregnancy. I'm trying to be rationale and realise 1/120 is not the end of the world, although I can't help but worry.

I'm booked in for an amino on 12/7/13.

Have any of you had a similar experience? Do you know what this means? Should I be preparing myself for bad news?

Thanks in advance

L

#2 Zachary Quack

Posted 02 July 2013 - 07:25 PM

Basically if you have 120 pregnancies (you personally, not compared to the rest of the population), statistically one of those will have Downs. Or to put it in another format, this pregnancy has a 0.008% chance of having Downs.

These tests are not definitive - the amnio is. The NT and bloods just give the odds, not a final answer. Don't worry yourself until you have to (easier said than done).

Good luck, let us know how you go.

#3 maryanneK

Posted 02 July 2013 - 07:28 PM

try not to worry,  and wait for the amnio
or, rather than have the amnio - do you know about the new blood test you can have instead? It isolates fetal DNA from your blood and they do the DNA analysis on that. its an alternative to the amnio - ask your dr about it. not cheap but avoids the need for amnio
good luck

#4 Nervousmama

Posted 02 July 2013 - 07:32 PM

Hi there - you should head to the Support group for High NT results - it helped me to read everyone's  stories when I was going through the same thing a few months ago.
I was given 1:45 odds also due to biochemistry results - HCG of 2.18 mom and Papp-A of 0.303 mom. Everything looked fine with the baby - NT of 1.8mm and wasn't told anything about nasal bone so it must have been okay.
I opted for CVS because I couldn't bear the wait for an amnio. Preliminary results came back clear in 24 hours and full report came through 2.5 weeks later also clear.
The concern was mostly the low Papp-A. It's still a concern at 25 weeks but am just having more regular appointments with my OB to make sure growth is okay. All good so far.
"They" like your numbers to be 1.0 mom for each hormone and any deviation from this seems to get you "caught in the net". Being 37 probably elevates your risk factor slightly so a 25 yo with your numbers would probably not be considered high risk. My first pregnancy I was 28 yo and my numbers were worse than yours but being that bit younger saved me from being considered high risk.
The worst thing about the whole ordeal is the wait.
I am now 31 yo and having a girl this time around. It seems that my body produces a different level of hormones to the norm, but it's normal for me if you know what I mean. I'd probably have bad numbers if I were to go for a third baby.
Try not to stress, it's very very very likely that all is fine but look through the High Risk Support threads as there are heaps of good outcomes.
All the best x
PS sorry for the long windedness!

#5 LouF1

Posted 02 July 2013 - 10:53 PM

QUOTE (Nervousmama @ 02/07/2013, 07:32 PM) <{POST_SNAPBACK}>
Hi there - you should head to the Support group for High NT results - it helped me to read everyone's  stories when I was going through the same thing a few months ago.
I was given 1:45 odds also due to biochemistry results - HCG of 2.18 mom and Papp-A of 0.303 mom. Everything looked fine with the baby - NT of 1.8mm and wasn't told anything about nasal bone so it must have been okay.
I opted for CVS because I couldn't bear the wait for an amnio. Preliminary results came back clear in 24 hours and full report came through 2.5 weeks later also clear.
The concern was mostly the low Papp-A. It's still a concern at 25 weeks but am just having more regular appointments with my OB to make sure growth is okay. All good so far.
"They" like your numbers to be 1.0 mom for each hormone and any deviation from this seems to get you "caught in the net". Being 37 probably elevates your risk factor slightly so a 25 yo with your numbers would probably not be considered high risk. My first pregnancy I was 28 yo and my numbers were worse than yours but being that bit younger saved me from being considered high risk.
The worst thing about the whole ordeal is the wait.
I am now 31 yo and having a girl this time around. It seems that my body produces a different level of hormones to the norm, but it's normal for me if you know what I mean. I'd probably have bad numbers if I were to go for a third baby.
Try not to stress, it's very very very likely that all is fine but look through the High Risk Support threads as there are heaps of good outcomes.
All the best x
PS sorry for the long windedness!



#6 cinnabubble

Posted 02 July 2013 - 10:59 PM

OP, please remember that your testing only shows you at mildly elevated risk based on your age. Please don't fret. I have had both a CVS and an amnio and, while they're not fun, they're fine in the end.

http://php.med.unsw.edu.au/embryology/inde...sk_maternal_age

#7 Justaduck

Posted 02 July 2013 - 11:04 PM

I too was going to suggest the high risk thread.

At 23, I was told DD had a 1:207 chance of having DS so we panicked as well. The worst of it was my hcg was 6.01MoM & pappa was something around 0.5Mom or 0.7MoM. No google searches really brought up anything about 4.0MoM so that scared us even more. We opted for no amnio due to risks and it was a very long wait til the next scan/next scan/next scan/birth til we knew for sure.

They monitored her closely as often DS babies/babies whose mother has elevated hcg can have growth issues. She was born fine and had a chromosome test within an hour of birth and it is all clear.

This pregnancy we were expecting the worst with testing but I screened better for my age. Even still my hcg was 3.59MoM and pappa 0.9MoM. I do not know if there is a link to anything, just a guess of my own, but I was diagnosed with pcos at 13, so I do wonder if it is linked.

All the best for your amnio and hope you can stress a bit less with a negative result for any abnormalities.

#8 LouF1

Posted 02 July 2013 - 11:06 PM

Thank you so much for your responses.

MaryanneK- My ob's told me about the verify test but we decided against it as he said there are 3 possible outcomes. Low risk/low range, mid range/inconclusive or high risk/high range. I just thought its a lot of money to spend ($1200) if there's a chance of getting an inconclusive result, but more so than that, we could end up with the additional stress of still needing/wanting to get another test at the end of it.

Nervousmama- thanks for explaining the results further, that was really helpful.  I debated the cvs, but for me in the end we decided on the amino as it was less risk of mc.  Glad to hear all was well with your previous pregnancy and fingers crossed everything goes smoothly this time too.

2catsandababy- sound advice about not worrying. I will try my best:)

#9 melanieb530

Posted 02 July 2013 - 11:10 PM

As others have said the odds are still in your favour.
I have three perfect children, one who happens to have Down Syndrome and I really belive that there is nothing to fear about having a child with Down Syndrome, she is the greatest little kid and I wouldn't trade her for a "normal heathy" child despite having some major surgery and a couple of stints in ICU.
Good Luck wherever your journey takes you.

#10 beckyp80

Posted 02 July 2013 - 11:23 PM

Hi Everyone, i'm new to this site and would really appreciate some help. I am beside myself after just having my blood test results back.
I was aware after my NT scan that there would be a higher risk of downs as my result was 4.8mm, i am 33.
But my previous pregnancy last year was 1:120 after NT of 3.5 and blood works coming back.
This result has come back 1:2 these are my blood results

Free BHCG 117.0 Free BHCG mom 2.68
PAPP-A 2470 PAPP-A mom 0.92
12 weeks and 3 days CRL 59mm
NT 4.8mm NT mom 3.29

Can anyone make sense of what i should be looking at as there are two different readings, i can't believe the results have come back so high

Thank you in advance

#11 Justaduck

Posted 02 July 2013 - 11:40 PM

becky I would assume that it is based on the increased NT fold. Just by plugging in your CRL & NT into the perinatology website it comes back to say the NT is greater than the 99th %ile of what is to be expected for a bub that size. The expected NT for a 12w3d fetus is 1.59MM.

I plugged your info into a calculating program http://www.sbpsoftware.com/trisomy-risk-calculator.html
and put in in with a"normal" nt of 1.59 as the perinatology site suggested and your risk with a smaller NT came back as 1:1447, but when I put in your actual NT of 4.8mm it is where the numbers jump.

It would really depend on your exact bloods to know what your risk would have been last time

Have they booked you in to see a counsellor to discuss your feelings and what to do from here whether it is the blood screening test/amnio etc?

Edited by Justaduck, 02 July 2013 - 11:41 PM.


#12 beckyp80

Posted 03 July 2013 - 12:12 AM

Hi

Thank you for your reply, i really didn't want to but have booked in for a CVS, i would have avoided this at all costs if possible because of the risk of miscarriage, but due to the really high result i feel i don't have a choice, my CVS is on Monday.

I have read some people post that they have NT results of 5 plus and there chances come in less than mine, which is why i am so shocked at the results.






0 user(s) are reading this topic

0 members, 0 guests, 0 anonymous users

 

Share your baby's first taste photos to win

Heinz and Essential Baby are giving away $1000 and baby food hampers - enter today!

Mum speaks out after being verbally abused while breastfeeding her baby

We don't use clickbait headlines here at Essential Baby, but here's one case we would consider breaking our rule for.

What medications can pregnant women take?

For most women, forgoing anything that poses a risk to the baby is a no-brainer. But what about medication?

Win a luxury baby bag

To celebrate the launch of our exclusive Essential Baby offers email, we're giving away an Il Tutto baby bag valued up to $450.

My friend fed my daughter when she couldn't feed hers

When everything is broken and mixed up we have to create our own beauty from the pieces.

Baby Aubrey's smile for the dad she'll never meet

It is a precious image little Aubrey and her family will treasure forever.

Congratulations - it's a Ford Foetus!

It wasn't until he zoomed into the picture that he noticed a familiar shape

The life-changing magic of tidying up: parents' edition

It made me swoon to think of a house so neatly organised that anything could be located at the drop of a hat. That said, I must admit I struggled to relate to a lot of it.

Sextuplets recreate viral baby photo six years later

You may have seen the amazing photo before: a dad lies on the floor, six babies sleeping happily on and around him, as his wife looks on.

Dad no match for baby's smelly nappy

He somehow managed to avoid it for three months, but the time finally came when new dad Brendan Andrews had to deal with a dirty nappy.

Pregnant teens smoking in hope of having small babies: study

Pregnant teenagers are smoking in the hope it will result in them having smaller babies, according to new research.

Why all births should be followed by a debrief

During a birth debrief, the new mother has an opportunity to talk about her birth experience.

Dealing with new mum insomnia

So your baby's finally asleep, and now you can't get any shut-eye? You're not alone.

Style inspiration: 10 more dream nurseries on Instagram

We've spotted some amazing decorating talent on Instagram. Tune in for the latest nursery inspiration.

How to choose a rare and unusual baby name

On the hunt for an rare and unusual moniker? Here's some advice on how to search for 'the one'.

How to work from home with a baby

When it comes to working from home with a baby, life can certainly be both challenging and different.  

Paul Chai

'Aren't you lucky you had boys?'

"If I had a penny every time I heard this, I'd have amassed a lot of cash by now," writes Paul Chai.

How I learned to love my mummy body

When I had my two daughters, my body became all soft. Some bits wobbly, others a bit saggy.

Adult breastfeeding relationships - yes, this is a thing

An Atlanta mother, Jessica Mulford, has attracted worldwide attention for admitting she breastfeeds her boyfriend, thirty-six year old Brad Leeson.

The best pregnancy pillows

A maternity pillow is a must. Here's a roundup of the best of each kind.

White couple 'adopts' leftover black embryos

"It forces you to think in a new way about the way you think, speak, act and live."

How stars dealt with their real-life pregnancies on the small screen

When a TV star falls pregnant but the series is in production, there are tricks and ways to hide a growing belly. 

 
Advertisement
 

Top 5 Articles

Advertisement
 
 
 

What's hot on EB

Win a luxury baby bag

To celebrate the launch of our exclusive Essential Baby offers email, we're giving away an Il Tutto baby bag valued up to $450.

I think my toddler has a sensitive tummy ? what should I do?

For some children, upset tummies come and go. For others, they feel like a regular part of life. (SPONSORED)

Is this the best ever gender reveal photo?

The phrase "it's a boy!" is not an unusual thing to hear in a delivery room. However if the mum and dad-to-be believed they were expecting a girl, the words would come as a bit of a surprise - just ask Koto Nakamura.  

Hilarious reply to mum's inquiry about "broken" baby

What do you do when you have something new and it doesn't appear to be working properly? Look for the guarantee, of course. 

Jena Malone's unusual baby name choice

Jena Malone and her boyfriend Ethan DeLorenzo have welcomed a son, giving him the unusual name of Ode Mountain.

Toddler diagnosed with early onset puberty

A one-year-old boy in India who developed facial hair and sexual urges was diagnosed with a rare hormonal condition.

The pain of teething

If the tooth fairy takes teeth away, it must be something like a goblin who brings them in the first place.

10 things I need to thank my partner for

He didn't have to grow a human, recover from childbirth or learn the ins and outs of mothering two children, but he did have to do an awful lot.

My in-laws snubbed our wedding

For your own husband's parents not to come to your wedding is an utter embarrassment.

Dad shares hilarious video on how to travel with a baby

Travelling with a baby can be a daunting task for new mums and dads.

Adorable triplets give garbage men a hand

Tuesdays and Fridays are the favourite days of the week for toddler triplets Heaton, Wilder and Holden.

The new family holiday: the maternitymoon

It's an idea that makes some people feel excited, while others shudder at the increased difficulty.

Symbolic permanence: the rise of tattoo wedding rings

Couples are choosing to get inked in honour of their lifelong commitment to each other.

Is it okay to reward children with food?

Does giving children food as a reward turn them into emotional eaters?

Exhausted mums share their 'sleepy selfies'

Two photos of mums have shown the world the physical impact of exhaustion in all its frazzled glory.

Mum shares pic of Gordon Ramsay's baby doppelganger

A Welsh couple have realised their newborn has a striking resemblance to a certain celebrity chef.

Do you hide your emotions from your kids?

I want my children to grow up and know it's okay to feel strong emotion and to display it. Vulnerability and imperfection do not equal weakness.

 

ENTER NOW

Win a luxury baby bag

To celebrate the launch of our exclusive Essential Baby offers email, we're giving away an Il Tutto baby bag valued up to $450.

 
Advertisement
 
 
Essential Baby and Essential Kids is the place to find parenting information and parenting support relating to conception, pregnancy, birth, babies, toddlers, kids, maternity, family budgeting, family travel, nutrition and wellbeing, family entertainment, kids entertainment, tips for the family home, child-friendly recipes and parenting. Try our pregnancy due date calculator to determine your due date, or our ovulation calculator to predict ovulation and your fertile period. Our pregnancy week by week guide shows your baby's stages of development. Access our very active mum's discussion groups in the Essential Baby forums or the Essential Kids forums to talk to mums about conception, pregnancy, birth, babies, toddlers, kids and parenting lifestyle. Essential Baby also offers a baby names database of more than 22,000 baby names, popular baby names, boys' names, girls' names and baby names advice in our baby names forum. Essential Kids features a range of free printable worksheets for kids from preschool years through to primary school years. For the latest baby clothes, maternity clothes, maternity accessories, toddler products, kids toys and kids clothing, breastfeeding and other parenting resources, check out Essential Baby and Essential Kids.