High Risk Pregnancy chance 1 in 7 risk Down syndrome

[sterlihalla]

Hi everyone, i hope its ok for perspective Dad's to post on here. Me and my wife are going through her pregnancy and it has been one of the most stressful periods of my life. She is also stressed but i have been able to calm her down but i seem to be feeling it a little bit more at the moment. I just felt like posting on here just to hear some success stories and advice.
My wife is 32 soon to be 33 in June, she is mixed race and this is her first baby. When we went for our 12 week scan we couldnt get the NT measurement because the baby was the wrong way round and would not move. She were offered the quad test. Here results were below:

Marker Corr MoM Pattern
AFP
0.67
Low
hCG
3.25
High
Inhibin-A
1.12
Slightly high
uE3
0.50
Low
Risk
1 in 7
Higher-chance screen

I managed to take a sneeky picture of these results even though i probably was not allowed to but i needed to know why she was higher risk. Has anyone ever had similar quad results and been ok? or can share a similar story?
She also has rhesus negative blood which can be a problem because i am O positive. Has anyone dealt with that before too?

I was o- my partner and baby o+. It just means you get an injection at 20 weeks and after birth (and any stomach trauma eg getting punched by a toddler)

My downs syndrome chance was 1 in 60. Baby didnt have downs. 1 in 7 means 6 in 7 babies not having Downs and even that 1 in 7 that do, many people choose to continue and accept it.

Sorry maybe I’m naive, what does her being mixed race add to the discussion? Genuinely curious, again apologies if I’m missing something

I think its part of the profile but dont think its that relevant to the screening. Do you have anything to share?

Congrats on your baby. I just dont understand why its such a high risk especially for a 32 year old.

You mentioned she was mixed race OP so I wasn’t sure what that has to do with the subject, I thought you may know as you’re the one that mentioned it. Either way I was curious and I thought I was about to learn something. For eg I know people from west Africa & some Asian countries are more likely to have the sickle cell gene. So since you mentioned your wife is mixed race, I was curious as to why. I guess you were just mentioning :)

Hi we had a 1:2 chance of downs we went forward with the amniocentesis is this an option for your wife? If it is I would proceed with this if you want a definite answer.

Mine wasn't quite so high but I also had the quad test as they were just bringing in the nuchal screen and still training the sonographers/piloting it. So I had the test but they couldn't use or share them with me.

I had an amnio and all was well. The quad test isn't as accurate so you may have got better results if you'd had the nuchal fold measurement. Is NIPT an option for your partner?

I hope you get good news.

What was the outcome if you dont mind me asking?

We had the nipt. Guessing you were low risk?

I was younger than your wife.

Its just random chance. Some people have down syndrome at young ages.

What happened?

I had a 1:50 chance. We had the NIPT but they said for odds higher than 1:10 they would recommend an amnio. The NIPT was clear but it was a stressful time.

Do you know what the nuchal fold measurement was on the scan?

It was 14 years ago and NIPT wasn't an option so we went straight for amnio.

If you got 1:7 from NIPT then that's more accurate but is still a risk ratio not a diagnosis and still more likely that all is well rather than not.

They couldnt measure the neck. Wow stressful. How old were you?

Sorry I missed that part. What have they offered you now? I was 35 when I was pregnant.

I think her HCG is quite high, usually they say HCG and Papp-a should be around 1. That may be increasing the risk.

I was very high risk due to my age and ended up paying privately to have CVS at the Fetal Medicine Centre. The baby was healthy. However before I got the results I almost drove myself insane worrying about it. Remember 1 in 7 means that 6 out of 7 children will not have Down. If this was a horse race you’d place a winning bet with those odds!

Before you and your wife do anything else, discuss what you will do as a couple if you have further testing and the results are not what you wish for. Ultimately she is the one carrying the baby and has the final word, but it is important you have the discussion.

I have done some work with Down’s charities and met old mothers, young mothers, mothers who have had only one pregnancy, mothers who have had multiple pregnancies. Although we think of age as being the main risk factor, there is also the Robinson (?) gene that can cause Down’s.

Good luck with whatever you decide to do.

We did quad test now did the nipt waiting on results.

I had 1 in 10 last year, but that was the combined test, not the quad test, so I can't compare my results to yours. We had NIPT as we didn't want any risk to the baby (we would have kept a baby with Down's) and it came back low risk.

Race is a factor in the combined test too, as well as your weight and some other things IIRC. But they are smaller factors in the calculation. The main ones are the actual blood results and NT, which they then apply to the standard risk profile for your age.

So sorry you are going through this. I had a 1 in 4 risk and all turned out fine, but I remember being sick with worry. Opted for the NIPT test following a detailed scan with the fetal medicine unit. The consultant was very confident in saying the NIPT would be negative as they couldn’t find any markers.

I had a similar risk level for Downs with DS and I found it comforting to think of it in percentage terms.

If it's a one in 7 chance, that means there's around an 86% of everything being fine, which is pretty good odds.

Wishing you all the best.

They couldnt do nt because of the babies postion

I hope it goes ok for you. It’s a really stressful time. I’m not sure when you had the NIPT, but the results of mine came back after about 5 working days.

My results were 1:6 and the baby had Downs. I was 27 at the time, it's just one of those things that can happen. I had the CVS to confirm.

Hey what was your quad results if you dont mind me asking? Was it your first child? Did you keep the baby?

My beta HCG was 67,7 and Papp a was 0,08 - but that's the only numbers I have from my blood sample. I don't know any calculated values for the 1:6 result.
It was my first pregnancy/child and I didn't keep it (a girl). I've since had two children. I have no regrets at all. I sometimes think about what could have been, but not in a way in which I regret my decision. I'm actually very grateful for the health care system and that it was discovered.