High Risk for Downs Syndrome

[MummytoLoganDarcy]

Morning all

We had our 12 week scan yesterday, unfortunately we were given the news our NT measurement is 6.8mm and way above normal, the sonographers didn't look hopeful and sent us to a quiet room, we were distraught, shocked and confused.
We had a lovely midwife come and explain the possibilities of all the chromosomal and heart problems possible and our options. She offered the CVT but luckily our hospital is trialling harmony which will give us an answer in two weeks, so at the moment it's a waiting game..a horrible one!
The midwife rang again later that day with the expected high risk combined results..we have a 1 in 4 chance of having a downs baby. I am still waiting for my blood work to come in the post. I would love to hear from anyone in a similar situation or who has been. Thanks xx

I'm so sorry you're dealing with this situation

Was there anything else seen on the scan? Was it a very detailed one - there are lots of soft markers they can check for but most NHS hospitals don't. Some places like Kings College or UCLH and some other London hospitals do very detailed NHS scans, especially in the presence of a high NT. If you did have a very detailed scan and it came back clear then that might give you a little bit of reassurance. The incompatible with life trisomies usually show soft markers on ultrasound at this scan if it is detailed enough, and I think around 50% of babies with Down Syndrome do as well.

If you have the money and you don't think you had a very detailed scan and can get to London, I'd highly recommend the Fetal Medicine Centre for a detailed scan. However it wouldn't be as reliable as Harmony is in terms of proving there isn't an issue, but if there IS an issue, the chances are good they'd spot it and be able to explain it to you.

If you're stressing big time during the waiting game and feel the cost is justified, it might be worth considering. You will also be scanned by a sonographer who is also a research doctor who will be able to answer any questions you have far better than most sonographers/midwives etc you'll see on the NHS, and they do bloodwork there with results straight away too.

I have had a 1 in 5 (borderline NT and dodgy bloodwork combined with age) before and baby has had typical chromosomes. Hang in there!

Hi, I have a son with Down's syndrome. It's not as terrible as you are probably imagining at the minute. It's a lot to come to terms with (we had an antenatal diagnosis) but most children with DS now lead a fulfilled life, many attend mainstream school and the opportunities our children get are much greater than before. If you have any questions please PM me.

Thank you. The scan took a long time and a few sonographers came in and had a look. They said they can see nothing else wrong with the baby, just the high NT reading. I didn't look at the babies measurements and the femur length is shorter which I read can be a marker for downs. We don't have the money for private scans at the moment, so it's a case of waiting to see and going from there. The midwife mentioned regardless o my blood results my risk factor will come back high, so I am looking forward to seeing these in case they are low and the high NT brought the average up?! Maybe clinging to any bit of hope.