"Very abnormal" nuchal biochemistry results, CVS result currently unclear.

[Mallory1980]

Hi all, this is my first post on Mumsnet and I wondered if someone might have some advice.

Basically I had my nuchal screening done at 11+5. The sonographer had no concerns at all - she described the baby as "perfectly shaped" with a nuchal fold within the normal range and a strong heartbeat.

However my biochemistry results came back all up the creek. While I am considered low risk for Down's Syndrome my results were described by the screening midwife and everyone else involved as "very abnormal, very unusual biomarkers". My hCG was at 0.19, and my PAPP-A was at 0.19. Not only is this very low, but apparently it's also unusual that BOTH values are low. So another, more severe chromosomal abnormality was suspected, namely either Trisomy 18 (Edwards Syndrome) or Trisomy 13 (Patau's Syndrome). Both are "incompatible with life" (there's a phrase I don't ever want to hear again).

So at 13+4 I had a CVS done. Not much fun, but bearable. The consultant did a scan beforehand and again I was told that thus far the baby looks normal. I was also told to expect the test results within 3 days. However, after three working days (and a weekend - agony) had gone by I was told that my results are "not clear-cut" and that I have to wait another 2-3 weeks for a full karyotype. Ahahahahasob. I was told that Trisomy 18 (Edwards) is definitely present in my placenta, but they have reason to believe that there might be a very small chance that the baby is unaffected. The lab report mentioned Confined Placental Mosaicism (no, me neither) as a possibility, but there's no way of telling for sure yet. The screening midwife told me she isn't optimistic.

So I am basically spending the 2-3 weeks I have to wait by googling (I know I shouldn't) and going deranged. Google isn't yielding much - it would seem that my particular situation is indeed quite unusual. So I wanted to find out if anyone on here have been in a similar situation? If so, what was the outcome? If the baby did turn out to be normal was the placental function affected? I basically just want to find out as much as I can, if someone been through something similar?

So very grateful for any advice.

I just wanted to update you lovely ladies who provided such great support and encouragement. The CVS came back saying my baby has full Edwards syndrome. I insisted on a scan. I guess I was hoping for a miracle. No such thing. It was heartbreaking. The baby was so active - moving around, playing with the umbilical cord, sucking its thumb - and apart from a clenched left hand looked so normal. But there's spinal problems, heart problems and entire parts of the brain simply haven't formed. There's no chance.

Tomorrow I go in to take the pill. On Saturday, when I am 18 weeks, they'll start my labour. I am beyond heartbroken, and possibly going a little bit mad. I've made a blanket for baby to be swaddled in and a little stuffed bunny because I feel baby must have something. It all feels so wrong. Baby is just so alive in there. Of my three babies this is probably the most active, and for every flutter and movement my heart breaks a little bit more.

On an intellectual, logical level I know I'm making the right decision. For my two children's sake. For baby's own sake. For my sake, and my partner's sake, as I'm not sure we could bear holding a baby in our arms only to watch it pass away. But all my instincts are telling me to protect my child, to hide, to run away to some magical place where miracles happen and my baby can be healthy. There's no such place, is there?

Anyway, this became long and rambling, and I only wanted to write a quick update. Sorry, and thanks again for your support.

Malory I am so sorry to hear your news. I have been there with exactly the same diagnosis . My baby was the same doing somersaults and like you the mothers instinct to protect is so strong it was truly heartbreaking to lose him . For me this happened many years ago and In that time I have often wondered wether I should have seen it through to the end but I know deep down I made the right decision for him and our family and I am certain you are doing the same for yours

I am so sorry.

Oh Mallory I am so sorry to hear that, I wish you could have had a happy ending after all the uncertainty. It must be so hard when you know things are seriously wrong but on the scan all looks fine I will be thinking of you on Saturday. x

I'm so sorry Mallory. My thoughts are with you.

I am so, so sorry :-( It sounds like you have done absolutely everything you could by insisting on the scan, and I guess for your sanity it is good the scan finally showed something so there could be no doubt. If only there could be miracles

Those two trisomies are beyond cruel. Most trisomies result in a loss long before this point, taking away the need to make the most horrific decision a mother could ever make. You are making it with love though, never forget that - your baby will only ever have known your love and never suffered.

I hope all goes as well as it can tomorrow.

Oh no Mallory. I'm so sorry .

I'm so sorry to hear your devastating news Mallory. I've been sort of in your shoes, ended a pregnancy at 22 weeks as my baby had downs syndrome and very significant heart abnormalities. Good luck with getting through the next few days and take all the pain relief on offer. You are protecting your baby from future pain, you are being a good mum. Be thinking of you.

So so sorry to hear your news x

Thinking of you Mallory Different condition but we too know how it feels. Its heartbreaking but you are doing the right thing and in time it will get easier to deal with and remember xx

Bigspottycupoftea - "Protecting your baby from future pain" - As silly as it may sound I've never thought of it like that before but you are completely right. When I have one of my more difficult days I'm going to think of this. Thank you x

My thoughts are with you today Mallory, so sorry you have to go through this and hope you have people around you to take care of you x

Thank you so much for your kind words. And for those of you who have been/is in a similar situation to me, how I feel for you. It's a pain I never wanted to experience, and I can only imagine how it is for you.

You are absolutely right, CrispyFB. However much that scan shattered my heart into a million tiny pieces, i needed to see. I could never have terminated on the word of some anonymous lab technician alone, I would have clung to the hope of a miracle, that maybe MY baby would be the one to beat all odds. But now, late at night when I can't sleep and I doubt my decision, I look at the scan report. "Sacral spina bifida", "absent cerebellum", "Arnold Chiari malformation", "agenesis of the corpus callosum" "abnormal outflow tracts" and on and on. However much it hurts to read I know I'm doing the right thing.

I was meant to go in first thing this morning but as there are no beds currently available on the gynae ward they changed it first to 11am and then to "14pm-15pm, maybe. We'll call you." Meanwhile I can feel the baby kicking all the time, and it's breaking me. I took mifepristone Thursday morning and was assured it would "put the baby very gently to sleep", but not so, it's still moving in there as normal and there are no words to describe that feeling.

I just want it to be done so I can start picking up the pieces and move on.

No woman should ever have to experience that, I can't even begin to imagine how much every kick must be destroying you. It is bad enough this is happening anyway without having it prolonged like this - really they should be pulling out all the stops to make sure you're not messed around when it is something as devastating as this. You're not just a regular gynae patient ffs

Really hoping you can get in today.

I am so very, very sorry to read this.

I can only hope that you have a speedy resolution, because as CrispyFb says, no woman should have to go through this.

be kind to yourself, you are doing the only thing possible.

I delivered a teeny tiny but perfectly shaped baby boy on Saturday night. We got to spend as much time as we needed with him, and the hospital staff were all beyond lovely. We're having a very small - just my partner and I - service for him next week.

The thought that I will never see him smile, talk, run, play and love is causing me more pain than I could ever anticipate. Sometimes it feels like it's physically impossible to breathe. But I take comfort in the knowledge that my little boy never knew anything of pain. All he ever experienced was the warmth and comfort of my womb, and he fell asleep to the sound of my heartbeats.

Thinking of you. Having experienced the same agony earlier this year I know how you feel. The pain will get easier and please take comfort from knowing you did the right thing. Sending big hugs x

So very sorry Mallory, beautiful words to describe all he knew. May he rest in peace x

I have been thinking of you all

I'm so glad the hospital staff were lovely and you are going to get to say goodbye properly.

All he ever experienced was the warmth and comfort of my womb, and he fell asleep to the sound of my heartbeats.

That's such a beautiful thought.

I'm so sorry for the loss of your baby boy and hope the service brings some comfort to you and your DP.