Screening Results Clarification.

[steHughes]

Hi, this is my first post and I would be grateful if someone could help me shed some light on things for me please.

My partner and I had a call from the midwife and she explained that we had a 1:5 chance of the baby having Downs Syndrome.

Some background info. She's 37, first pregnancy through IVF (so far 1st round success)

This is where I'm struggling a bit with the results.

Test. Conc, Unit. Corr.MoM
hCGb. 134.36 ng/mL 2.84
NT. 1.10. mm. 0.69
PAPP.-A. 522.22. mU/L. 0.19

I know this means that going off what they said, there's an 80% of the baby not having Downs Syndrome, but I'm wondering if them getting the gestation date incorrect would be skewing the results slightly

It's dated as being 12 weeks and 3 days but as we know the exact date to have been 12 weeks (with it being IVF). I'm wondering could the risk factor be potentially lower. Looking at typical hGC levels, there is a huge range and they drop rapidly at 13 to 16 weeks it would appear. +3 days could explain why they are high when they are expecting to see a drop!

We are currently waiting further testing but this will not happen until next Tuesday at the earliest we are told and results to follow within 48 hours. I may be clutchinghj at straws here but any insight in layman's terms would be greatly appreciated.

Thank you.

IVF babies always seem to vary by date a bit. I’ve been through IVF myself and most people I’ve spoken to were dated different to their IVF dates at the dating scan.
I was told that it wouldn’t make a difference to the results so I wouldn’t think that would be it.
Positives are the the NT measurement is low. A high NT measurement can be a strong indicator for downs or other problems.
Do you know if they saw a nasal bone during the scan? I was told that if they did then this is another positive thing.
The only thing that can tell you for certain is having further testing. It’s a really horrible time but it’s good to think about the 80% chance that it won’t be that.
I hope everything goes well next week.

If the bloods are off they are off , you can have a non invasive test first but if you don't want a baby with downs you will need to have a cvs or amino . Did they just say downs or possibly other genetic conditions ?

Like PP have mentioned, it's good the NT measurement is low, but your partner's low PAPP-A is much more likely to be the reason your score has come back high risk. That's the result I'd be asking questions about. Maybe also query whether the bHCG is on the high side.

Your partner's gestation (and 'official EDD) would've been decided by the size (crown to rump length) of your baby at the scan. I was also dated two days ahead of where I absolutely knew for sure I was. Babies don't all grow at the same rate and I think they date between 11-14 weeks because it's this period that's generally the most reliable indicator of future growth.

I think your next test is probably the NIPT which is more accurate than the combined test, so I really hope you get good news with that. If the NIPT also comes back high risk, though, and you want to, you can have CVS or amnio to actually diagnose if there's an issue. Despite the risk, I'd plump for amnio if I was offered a choice because it will tell for certain what's going on, whereas placental cells can sometimes confuse matters with CVS. Good luck to you!

As you mentioned there's 80% chance your baby is fine and I'd take comfort in fact NT measurement is low.

Maternal age alone significantly raises chances of Down's - and that is factored in.

I wouldn't worry until they give solid reason to be concerned.

I appreciate this will do little to alleviate your concerns but having been in a comparable position I'd suggest keeping distracted until you have results.

Best

Hi.

Thank you to everyone who replied.

@Banoffeepie91 Yes, we did see the nasal bone in the scan, it was only mentioned to us because baby was looking directly at the probe briefly, there was no further comment than that.

@gunnersgold no, the risk of the other Wes as normal, very low and there was no other mention of any genetic disorders.

@deliwoman1 we have been offered the NIPT but this wouldn't be until Tuesday next week as well and the results would take 7 days as they would need to be sent to Birmingham. Luckily, we have got an appointment sooner for a CVS test so will opt for that.

@BabyOnBoard90 again, thank you for your reply. As mentioned above, the cvs date has been pulled forward so we have our 🤞 for no further complications.

@steHughes that’s good your appointment has been pushed forward for a CVS. We had ours on a Wednesday and had got initial results for the main things they test for by Friday evening.
It’s the only way to give you a definite answer of what is going on and they can also do further testing with the sample if they think they need to after.
I hope you get some good news. The waiting is awful.