Petrified. Just got 1 in 38 chance of Downs from Nuchal scan blood results. Advice please.

[HeyThereSantasGirl]

I'm 38 years old and am 12+4 pg with much much wanted DC3.

I've just been called by Babybond with results for my scan and blood test for my nuchal scan. For my age I have a 1 in 112 risk of Downs, my hormone levels give me a 1 in 240 chance, but the adjusted score for me personally is 1 in 38. This is high risk.

I've just come back from seeing my GP who was lovely, but said that she thought it was a serious enough result to warraant a CVS.

I am PETRIFIED. I don't know what to do. I think I'll probably hve the CVS done. Although I know this carries a risk of MC. Although I don't know what I'll do if the CVS comes back positive for Downs. I have 2 other DD's (7 and 3) and a lovely DH who is incredibly supportive.

I've had 2 m/c before this pg, so it's incredibly hard to get these results.

DH and I are seeing private OB/GYN on Saturday to get some further information.

I'm just a soggy weepy mess at the moment.

Any advice would be very gratefully appreciated.

Thanks.

I had a similar calculated chance of Downs with DS after the triple test, and remember a horribly panicky midwife rushing me in to the hospital to discuss what to do. The wonderful consultant said that at my age (41) and weight (I was a size 24) the accuracy of prediction from the triple test was debatable in the extreme, because I was so far from the norm of the population used to generate the prediction. (I actually found his fairly robust approach very reassuring!)

If, as I did, you then do the basic arithmetic, there is a less than a 3% chance that there is a problem - this is a 97% chance that all is well. People will invest large sums of money on those sorts of odds!

I had an amnio (this was 10 years ago and neither CVS nor nuchal fold scans were available where we were) and I can still remember the hellish wait for results. During that time, I realised that there was no way I would terminate. In the event my son was (and is) fine - just as the odds predicted!

So to sum up, the odds are probably not quite as bad as they sound, and you need to think very hard about what you would do with the information before you submit yourself to the stress of more tests. However, having had the fears raised, it is difficult to leave it there, and I guess in our own case it was good in the end to know in advance that all was well.

Hi, I can sympathise how you feel. I had a one in 76 chance of a downs. After the amnio and a long wait, it came back negative. Try to be positive although it is easier said than done. Thinking of you.

Everlong Bloods are: PAPP-A 1.1308 MoM and Free Beta HgC 1.7066 MoM. From what I've been able to read on internet, think the Free Beta HgC might be near the hi end. It's all so confusing. The report also says: 'Diagnosis: No obvious fetal abnormality. Low risk genetical screen'. ?????

Ballonslayer Have had a look on the link. Thank you. I'm outside what they think is the norm for 11+ weeks at 2.4mm. But, never say never.

*Riven. Yes I agree with you. But I do need to know. Just so that I can make the best decision I possibly can. Believe me, the thought of terminating makes me weep. I DO NOT want to go down this route if at all possible.

Cote and NeverSayDie Thank you for your advice. It does make sense. I think it's the not knowing that is so awful. I feel so utterly powerless. Least its only a couple of days before we see the consultant. Although he's being rather doom and gloom it must be said.

Riven Babycentre says: 'An NT measurement of up to 2.0mm is normal at about 11 weeks, and up to about 2.8mm by 13 weeks and 6 days. This is because the NT normally grows in proportion to the growth of the baby'. But if you can find me somewhere that says 3mm, I'll gladly take it!!!!!

I got a risk of 1:24 at the age of 43. Before I had the amnio (at DH's insistence) the consultant did a wonderfully detailed colour scan of the baby's heart and showed us that there were no problems there. Would that be an option for you?

I got a result of one in eleven with 3.1 mm at 12 weeks ( and a few days), when I was 32 years old. I had the CVS at St George's where there was a doc with a very low miscarriage rate (1 in 300 rather than the average 1% risk IIRC). Anyway, all was fine, and I went on to have a lovely healthy boy. It was a horrible time though, and as I went on to have other unrelated health problems during pregnancy, my boy is an only child.

Good luck, and I hope everything works out for you.

My triple test result was 1/250 for DS, which is the point at which you get offered an amnio around here.

I had the amnio several weeks ago, and got preliminary all-clear results two days later (paid for FISH).

Catweazle I'll take anything at the moment that could give me a clearer idea of whether the baby has DS or not. Do baby's with DS have heart abnormalities then?

Riven Yes, it does look a bit inexact doesn't it.

Glasto My GP told me about the guy at St George's. Good to know that he has a low mc rate. Will look into him and also FMC in Harley Street. Glad that everything turned out well for you.

Cote Is FISH just a quicker way of getting results? How much? Glad that the results were all clear for you.

As glastocat says, what matters is the miscarriage ratio of the amnio team (doctor who does the puncture + ultrasound specialist who guides him) at your hospital rather than the global average.

When I was pregnant with DD, I found out that in the ten years since this same doctor has been doing amnios there, he has had only one miscarriage and that was a 42 year old woman with other problems in pregnancy. That was 3 years ago and when I asked again recently I found out that there hasn't been another miscarriage since.

And the quoted 0.5% (or even 1%) miscarriage rate is no longer the norm, apparently:

A recent study, led by Keith Eddleman, MD, of
New York's Mt. Sinai School of Medicine, and published in the November issue of Obstetrics & Gynecology, sought to determine if amniocentesis still has the 0.5% miscarriage rate (one in 200 pregnancies) that it did 30 years ago, when the last significant research was done. Dr. Eddleman offered amniocentesis to 35,000 pregnant women; 3,000 women opted to have it performed and the outcome was the same for both those who had the test and those who didn't -- about 1% of the women in both groups miscarried.

In this study the amniocentesis-related miscarriage rate was 0.06%, or one in 1,600 pregnancies -- significantly lower than the 0.5% rate that came out of studies performed in the 1970s. Since then, there have been many innovations in amniocentesis safety, the most significant being the use of ultrasound technology during the procedure - doctors are able to view the baby and therefore determine where to insert the needle.

From here.

I paid EUR 190 for FISH. While expensive, we felt it was worth it to have the peace of mind during Christmas holidays.

Amnio results come back in 3 weeks. (Mine haven't arrived yet). FISH results come back in two days. These are preliminary results, though, subject to correction by full amnio results.

Cote Thank you so much. This is invaluable advice. Would these results tranfer to CVS as well I wonder? I will be looking around to make sure I get the best possible person. This isn't a decision that can be rushed.

Santasgirl... I saw it a bit more optimistically than you, that it mentioned 11 weeks and you are over that!! I found seeing that some babies have it at 6mm reassuring.

If you were 20, a result that you have got (which seems to me to be on the high side of normal rather than purely high) would have shortened your odds of a DS baby but your odds would still not be high risk ... because of the age ... but it would still be the same baby IYSWIM.

In answer to your question, yes heart defects are reasonably common with Downs. In fact one of my friends I mentioned before was told her baby's heart had a feature which was found in DS babies. Baby didn't have Downs.

Another thing scans can look for is for the bridge of the nose. People with DS have a different facial arrangement, and clever sonographers can check this.

When expecting DS2 I would have liked to have found out if he had Downs or not. He was unplanned and we were contemplating moving house so he could have a bedroom. It would have been handy to know if we needed to consider catchment areas for certain schools. But there being so safe way to check, we didn't.

A friend of mine has a DS with the severest sort of ASD. The impact of his condition on his family's life - and of course on his - is completely cataclysmic, far beyond that of Downs. There is no screening for ASD.

I sometimes think that we get hung up on Downs Syndrome just because we can screen for it. It is not the worst that can happen by a long shot.

no safe way

Santa's Girl

Re your bloods.

As I understand, the HCG should be 1.0 therefore yours is raised. Mine was 1.2. Raised HCG is associated with downs

Your Papp-A should be 1.0. Mine was 0.56. Low Papp-A is linked with downs. No idea about raised Papp-A

Hope this helps

Balloonslayer The more information you give me, the more i think it would be prudent to get another nuchal done (if I can find an appt within the time frame) and ask them to specifically check nose and heart. Sonographer did say that nasal bone looked good and report says there are no heart defects. I hope this goes in my favour.

Mogwai It's on my list of (endless) questions to ask the consultant on Sat.

There is only a 2 1/2 % chance that your baby has downs syndrome. This is not a big chance at all. If you choose to have an amnio there is a 1 to 2% chance that you will miscarry a healthy child as a result. I think it is easy to be panicked by test results but in all honesty the chances that your baby has downs syndrome are very low.

You should also consider whether you feel you could cope well with a baby with downs syndrome. I decided that I would be able to and that I would get a lot back from a child with downs syndrome. If I had already had a child however I would want to factor in the effect on my other child and maybe I would have felt less confident in my abilities to deal with the situation... I don't know. Give yourself time to think things through properly.

regarding nasal bone

This can be misleading.

About 73% of down's babies have no nasal bone visible on the 12 week (ish) scan. So about 27% have a nasal bone.

Also, beyond 14 weeks the nasal bone can be hyperplastic (and therefore enlarged) which can look like a "good" nasal bone. No idea if this can be true before 14 weeks.

As far as I'm aware you have to be additionally trained or using a particular machine to judge nasal bone presence/absence as a marker for DS. My sonographer told me our baby had a good nasal bone when I was 13+ weeks but the consultant qualified this by saying she wasn't trained or using the right equipment to be making this statement (my hospital doesn't currently offer nasal bone scannign as a marker)

Also regarding statistics, I'm 36. Apparently 1.5% of women who opt for a nuchal scan plus bloods are given a "high risk" result at aged 36.

So 98.5% of 36 year olds don't get a high risk result.

I'd have been confident not to have been in that 1.5% so was quite shocked by the result.

Ultimately, statistics are a useful guide, but the choice must come down to whether or not you could cope with a DS baby. Having worked with many DS children I was certain of my feelings on the issue but people are so different and what seemed clear cut to me may be less clear cut to you, less of an issue.

The main thing is that you have time to think and the correct information. It does no harm to book an amnio - you can cancel later but might feel better knowing you've got the appointment so there's some sort of end-point to the current uncertainty. It's the uncertainty I found hardest to cope with.

In hindsight, the only thing I would have done differently would be having a second nuchal test. I've always had an inkling that the woman who took the nuchal fold measurement did it wrong, as I met a few other people in hospital who had been assessed as high risk by the same woman. Anyway, I would make the same decision again re having a CVS ( although now my boy is 7 of course the thought of risking losing him chills my blood). Stay strong, I know its no comfort, but chances are you'll both be fine.

Mogwai Thank you for all the information. And yes, the uncertainty that is crippling me and DH at the moment. To get some type of answer would be great.

I do need to work out whether we choose a CVS or amnio should the second nuchal not be practical (for time reasons) or that it gives us the same results.

I think its probably safe to say that this rounds off a real annus horriblus of a year for us.

Glasto I'm clinging onto any hope that I can at the monet that this is just a horrible episode that we have to get thru.