High risks downs combined test ?

[Edinburgh00]

so this is my background

Hi all I am looking some advice, I am 36 and my midwife told me at booking don’t be alarmed if you come back as high risk because of your age. I thought surely not , well I got a phone call today from my local screening midwifes to say the my bloods have came back as high risk for downs 1/51 ? I had the nuchal scan also which was 3mm which I was told at the time is considered normal but all this combined with my age, bmi (slightly higher than normal) and bloods have put me in a high risk category. I don’t even know what to do think. Any advice would be greatly appreciated. Many thanks xxxx

I have been to the screening midwife today to get some more information surrounding my results. This is what I was given
PAPP -a 0.68
NT 3mm
BHCG 1.26
My risk is 1/51 I am trying to remain calm as it is just screening and not a diagnosis both myself and my husband have decided not to have any invasive diangnostics as it won’t make a difference we will continue the pregnancy. I am trying to rationalise the odds they have told me high risk (everything has a risk ) but looking at figures I have a 98% chance of baby not having Down syndrome so that’s good odds. I have been researching and googling everything and anything that I can think off just for reassurance I guess but no matter what this baby will be loved I will just need to see what happens at the 20 week scan, nothing was mentioned at my dating scan the sonography said baby had beautiful profile and was even pouting ? So I suppose even though I will continue the pregnancy I am just grasping at straws for a sign either way. I know I have the NIPT test but after speaking to a private clinic this morning I too have decided against that as they said even a low risk is not a no risk ? And a high risk would require an Amnio 🤔 so I will have to wait and see at the anomaly scan throws anything up. All I ask is the baby is healthy xx

Hi, I’ve not been in your situation but I do have a baby with Down syndrome (first baby at 35 years old). We declined the combined screening test as we had already decided a high risk result would not have changed the course of the pregnancy and we wouldn’t have risked an invasive test. Both our 12 and 20 week scans were “normal” and no soft markers were visible (we were told if any markers were present sonographer would have had to tell us and usual referrals to fetal medicine made even though we’d declined screening). When newborn checks were carried out we were told that it was suspected our baby had T21, genetic testing was done (blood test) the following day and the diagnosis confirmed at 10 days old. Our baby is completely healthy with no medical conditions and is the best thing to have happened to us! Please try not to be worried and try to avoid google as you’ll probably only find negative/worse case scenarios! There are some fantastic Facebook pages and the Sally Philips documentary is definitely worth a watch. Enjoy your pregnancy and if you need anyone to talk to please feel free to send me a message xx

Thank you so much for your message, I do appreciate your reply and have found it really helpful thank you for the offer to have someone to talk to I am sure I will message you it will be lovely to have someone to talk to. X

The blood test i had for dd when i was 34 came back at 1 in 60. I had an amnio which came back clear. Lovely Dd will be 21 next month

You’re welcome
Wishing you all the best for a happy and healthy pregnancy, enjoy it it’s such a special time! x

Thank you for your reply 😊. X

I was also 36 when I had DS and fold measurement was also 3mm. Our risk came back as 1 in 20 for Downs. It was such a distressing time and we were so so torn about what would be the best thing for our family (also have a DD).
Anyway we had the NIPT test and were told it was low risk - I can't remember the statistics now but it was enough for us to be very confident in the result. He's now 2 years old.

Good luck to you

I was in exactly the same situation as you are now, but we decided before we started the pregnancy that we would terminate a child with a significant disability.
After we were contacted by the midwife about our results we had an appointment with a consultant already booked by her the following day. We chose to have amnio. It took 3 weeks to get the results back. It was negative.
This was 20 years ago. It was an absolutely terrible time, but not as terrible as that of my sister Prior to this who had a baby with Edwards Syndrome. Sometime life sucks. Good luck, and be positive.

The NIPT test is virtually diagnostic. It will either come back as 1/10,000 or 1/2 (that's what I was told when I had it) so if it comes back at 1/10,000 that is a negative result for Downs

I'm personally glad I had it (despite the £400 bill!) as I was then able to relax and stop worrying so much

THAnk you very much for replying xx