Low hcg and Papp-a levels, low risk result blood test for DS, but amnio due to scan results

[Hlister90]

Hi there, I have had the week from hell and needing to vent my feelings while I wait for that all important phone call...

Basically I am pregnant with my second child, first pregnancy was straight forward no worries.

The first concern I got was when I was 14 weeks, got a call from consultant regarding my screening test results for Down's syndrome. It came back low risk. But my hcg and Papp-a levels were abnormally low so I was invited to further Scans to monitor. 2 scans and everything appeared to be normal.

Fast forward to this week, on Tuesday I went for my 20 week scan, and was told that there was a hole in baby's heart and left ventricle was larger than the other. Heartbeat present and decent blood flow and all 4 chambers present but one side larger than the other.

I then went in to get an amnio yesterday to test for any other chromosome abnormalities, despite being low risk for Down's syndrome. My consultant was most concerned about chromosome 18.

Another doctor scanned me and had same findings about the heart so amnio went ahead.

I am waiting for a phone call to let me know results either way I will need a cardiologist involved to look at heart.

Has anyone else had this issue with the heart working but one side being bigger than the other. Me and partner are very very worried and it's been a terrible week so far. The worst part is the waiting.....

[SirVixofVixHall]

How worrying for you. I don't have experience of this - did they give you no thoughts on what might be needed in terms of treatment for the heart? Hopefully someone knowledgable will post shortly.

[bayswatersophie]

The waiting is awful I know. Thinking of you xxx

[Hlister90]

Thanks ladies

No they didn't go into too much detail they just wanted to rule out the chromosome abnormalities option first but they hav told me that they hopefully will call me this afternoon so at least I won't have to wait for weeks like others if they do.

[KittyandTeal]

I'm sorry you're having such a tough time.

Your story, sadly, sounds very similar to mine. Low Papp a, low risk for trisomies, extra scans all fine.

20 week scan they found a small brain anomoly but nothing else, sent me to Kings the next day who found problems with her cerebellum, a hole in her heart, strawberry shaped head and arms that didn't move at the elbow.

We had the amnio but I knew already. She had T18 and was born with all the above plus a small jaw and clinched fists with crossed fingers. We chose to have a termination at 22 weeks. It was pretty rough but the right choice for us.

I am happy to talk to you further about our story. If it is a positive for T13 or T13 (likely with low hcg and papp a rather than T21) there is a wonderful lady who carried her Dd with T18 to term and she lived a few months, I'm sure she would be happy to talk about the option of ctt.

Fingers crossed for a negative amnio. Are they doing 48hour rapid results for you?

[KittyandTeal]

Sorry just seen you're getting results today. That's great.

Dd2 also has uneven sized heart. Very common with trisomy babies. However, it usually comes with all the other soft markers too

[TheDisillusionedAnarchist]

Hi
I am the person Kitty referred to who carried to term. Sadly low hcg and low PAPP A with a cardiac anomaly put you at high risk of a chromosome anomaly particularly trisomy 18 or trisomy 13.

We also discovered anomalies at the 20 week scan including a similar heart defect which eventually led us to amnio and a diagnosis of trisomy 18. We had our daughter in September 2015 and she died on New Years Day this year.

Children with trisomy 18 live between hours and into adulthood. Oldest UK survivor is 24 and oldest globally is 50, although most children die within the first year partly due to the rampant medical discrimination against them. We keep a blog at //www.rumersrainbow.com about trisomy in the UK and I'd also suggest contacting ARC who are very supportive when any anomaly is identified.

I would add that the particular kind of heart defect you describe is very common in trisomy pregnancies but oddly enough seems to resolve before birth for most. I can think of three babies where it persisted to birth out of probably more than 50.

I'm sorry you received this bad news and I hope very much it is not trisomy 18 or 13 but please feel free to contact me if you want any info at all. i know there are a number of trisomy families around here too.

[KittyandTeal]

Any news op?

[Hlister90]

Hi everyone thanks for supportive messages, unfortunately it was not the news I was hoping for, baby has Edwards syndrome/trisomy18 and its heart and brain very damaged. Have made the heartbreaking decision to end the pregnancy which will happen this week. Devastated and heartbroken.

I already have a 3 year old girl who I've not shared the news with yet but she has been ill with a fever and is definately affected by the stressful situation, she hates seeing mummy upset :(

Also me and my partner dealing with things differently I want to see the baby and name him or her and preserve its memory but the idea of this freaks out my partner. It's just been a horrendous last few days so far but I have a feeling the next few days will be even worse. Take the tablet on Tuesday and will give birth on Thursday.

It's difficult as I will be 21 weeks and some people would consider it just a fetal loss but this is a baby to me, I've carried him or her for half a pregnancy and I cannot bear the idea of "disposing" of remains and pretending it never happened. So gutted.

[CuppaTeaAndAJammieDodger]

I'm so sorry for your news - I understand why your DP is freaked out by the idea of seeing your baby, hopefully he will come round to it over the next few days after the initial shock has settled.

Of course this isn't just a foetus, it is your child, and of course you want to treat him/her as such. I hope the next few days go as painlessly as possible, I for one will be thinking of you

[KittyandTeal]

I'm so sorry. I have been through almost exactly the same and am happy to answer any questions.

Your baby will not look like a foetus, he or she will look like a tiny baby. Our dd2 was 22 weeks but iugr meant she was measuring closer to 19 in size. She still looked like a perfect little baby. I have photos and a memory box for her.

My DH was unsure about seeing fun a spending time with her but I knew I needed to so we decided that I would see her and if, at the time he decided he couldn't, he would wait outside. As it was it wanted to see her and was glad he did. It gives you something more tangible to grieve for I think.

At 22 weeks giving birth was like a short labour and I took a decent amount of morphine.

Sands are a fantastic charity after loosing a baby and arc and also brilliant after a tfmr.

I am so sorry, it is one of the hardest things you will ever do. Be kind and gentle with yourself and you will get through it some how 💐

[Hlister90]

Thanks you both of you that has really helped me.

Although I'm heartbroken I strangely feel at peace with the whole thing in a weird way.

I'm sure my partner will come round and do what feels right for him but at the same time supporting me.

He's had to seek a lot of support from his mother which I appreciate he needs but I find her to be quite overbearing I think she was suggesting she wanted to see the baby but I cannot deal with that at all I need it to be a private moment between me and my partner, I'm going to get her to watch my daughter so hopefully that makes her feel important and needed but at the same time keeps her away. It's hard I know she's meaning well but I do find her to be overbearing.

I am just so sorry for anyone who has had to go through this it's horrific.

[bayswatersophie]

Hi OP
I have been reading your posts and praying for a different diagnosis for you... I just went through exactly the same diagnosis and tfmr 5 weeks ago, also at 21 weeks. I am so sorry you are going through this and I sincerely wish it was different for you. My thoughts and love are with you. It is all still very raw for me but please know that although it is the hardest thing you will ever do, you will come through it. For me waiting for the diagnosis was awful, having my worst fears confirmed was almost a relief so I could confront them. For sure waiting for the date of the tfmr is hard, just take it hour by hour and do what you need to do to get through it. Be gentle and kind to yourself. The birth itself for me was much longer than I was mentally prepared for so even if it can be quick for some women, it was not for me. I wanted to tell you that as I wish I had known myself before. If you have any questions on the birth, feel free to PM me. I know I really wanted to know what would happen so I could prepare myself. What you are feeling about your baby is so natural. He or she is a baby, and you should not feel bad for honoring those feelings. At 21 weeks my little girl Lily looked like a tiny perfect baby. She only weighed 340g but she was beautiful. I was scared about seeing her afterwards but I am so glad I did and that I spent time with her. My husband did not and I respect that, it was too hard for him and he had not engaged with Lily the way I had. It is ok if you see him or her and he doesn't, and equally he can change his mind at any point, even a few days after. Don't feel under pressure for that. I named her but my husband doesn't know her name as he found it too hard but maybe someday he will change his mind. As for your MIL, tell your husband to keep her at a distance if that is what you need. I didn't want anyone near me for weeks apart from my husband and children. I still find it hard being around people and I think it is completely normal. Don't feel bad about that and put yourself first. You, your husband and your daughter are all that matter at this time. I am thinking of you and sending you virtual hugs and support, please, if there is anything you want to talk about don't hesitate to message me. Xxxxx

[Hlister90]

Hi bayswatersophie thank you so much for your message and support its been really helpful to me.

Unfortunately things are not good between me and my partner, he has dismissed my wishes that his mother keeps her distance as he says he needs supported, I cannot have that at all and he is not thinking of our daughter and who is going to watch her during it. I don't think he quite knows exactly what is going to happen so I'm hoping our appt tomorrow before I get tablet will help him see. He's so caught up in his own anxieties and fears that he can't see that it is me who will have to go through the procedure. So so hard.

I am so sorry you have had to go through this you have handled it so well and I pray for all the happiness for you and your family during this tough time.

Thanks again!

Xx

[bayswatersophie]

I am so so sorry, that is not what you need at this tough time. Whilst it is hard for the dads, I really think it is different and harder for us emotionally, but certainly physically. You are right to want your little girl to be with her grandmother and to have the space you need. I hope the hospital appointment will help your husband understand that - I wonder if you can find a way of having the midwife or consultant address your needs with your husband? It might be easier for him to hear from someone neutral. You are in my thoughts xxxx

[Hlister90]

Thanks so much, I'll have to keep on at it, I think she herself would respect my wishes but him on the other hand.

I'm experiencing for the first time since the whole thing started immense feelings of anger and "why me???!?!???" It's so exhausting staying strong for everyone and he is just too consumed in his own grief by staying silent. Even had the cheek to say will we go visit my mum even tho I have been surrounded by his family all weekend to keep my daughter and step daughter distracted. I just want to be alone right now. My mum will be coming up tomorrow to watch my wee Girl while we go to the hospital this will be the first time I've seen her since the news as she lives far away and his mum lives close to us now.

Just so bloody unfair :( you will know exactly how I feel, amazing how such a rare occurrence has effected so many other people I'm so glad I've spoken to people in the same boat as me xxx

[bayswatersophie]

It is bloody unfair, I totally get the anger and feelings of why me... None of us deserves to be in this horrible situation. Sadly though when you do join this group of mothers you start to realise 'why not me'. It is humbling to say the least. I am glad you find comfort in not being alone in this, so do I. The ARC forum afterwards is a huge source of comfort and support, don't hesitate to become part of the community if sharing helps. I have had so much help in my dark moments from the helpline and the other ladies on the forum. Speaking of which maybe your husband might benefit from speaking to them to help him help you? I don't know you or him and I don't want to comment on your relationship at a time like this but seriously I want to shake him. Your wishes should be paramount at this time, you are the one dealing with the brunt of it. I really hope you don't feel pressured into being around his family too soon. I could not bear being around anyone for weeks and I really think you need peace and somewhere to retreat to lick your wounds. You certainly shouldn't have to feel under pressure to be strong for others. My heart goes out to you and I wish you strength, love and support through this. You sound like you are being amazingly brave xxxxx

[KittyandTeal]

I still have those feelings of why me and it's so bloody unfair. Because, you know what, it is unfair. None of us did anything to deserve this.

Please don't try and be brave for others, I did this and it really took its toll on me. You need to look after yourself. Even if that means saying to you dh 'no I'm not seeing your mother'

Lock yourself up and be alone for as long as needed. I stayed alone for months, I didn't stay in, I did things but I did them with minimal contact with others. Swimming helped me at first, I paced a swimming pool for an hour at quiet times. I run now, it's the best type of solitude for me.

I've become a much more solitary person since dd2, not in a bad way though.

Like Sophie I found the arc forum a great help and support for those first few months. It's such a strange situation, having had to 'choose' to end your pregnancy and loose your much wanted baby, the medical terminology etc. I can be very lonely. Even in sands groups, which are great, I feel a bit separate somehow. Arc is really the only place I felt I fit.

It's such early days. Do whatever you need to to get through xx

[Hlister90]

I'll def try that support group out, it's true our situation is very unique and specific.

Im now having to deal with my partner refusing to come to the appointment with me this morning and saying for my mum to go instead cos he's not dealing with it.

Just can't believe he's doing this to me, I get he needs to grieve too but I never imagined in a million years he would abandon me when I need him the most.

I feel too drained to fight with him.

[bayswatersophie]

I'm so sorry, that is beyond hard on top of everything else you are facing. I don't know what to say or suggest..... Just that we are all with you 100% in spirit. Maybe ring ARC before and/or after your appointment. The ladies on the helpline are there for you and will really help you. 0207 713 7486. They open at 10. You are so brave and you are not alone xxx

[bayswatersophie]

Hi OP, just checking in to see if you are ok after your hospital appointment today Xxx

[KittyandTeal]

That's terrible hlister. You're right, everyone does grieve differently, however now is the time to suck it up and get one with the medical stuff (in the nicest possible way) Greiving can wait until the physical stuff is over. I am so angry for you.

Don't take on this fight right now, deal with the most important thing right now, and that is you. Deal with him later.

I hope you took someone supportive with you and that it went as OK as it could. I've been thinking about you.

Now might be a good time to reach out to arc with your dh being so utterly useless. They are really supportive and will allow you to feel whatever it is you're feeling.

[bayswatersophie]

Hlister, thinking of you on this difficult day. I hope everything goes as peacefully for you as possible and that you have the support you need. Sending love and courage xxx

[KittyandTeal]

Thinking of you today 💐

[HopefulHamster]

Thinking of you OP. Hoping your partner is starting to put you first.