Stillborn at 36 weeks-genetic testing

[OPGsMummy]

I lost my baby boy 2 weeks ago, he was born sleeping at 36 weeks with severely enlarged ventricles and a bleed on his brain. He has gone for a post mortem and genetic testing, specifically trying to look for the L1CAM mutation. The consultant had to warn us it could be up to a years wait. Im in a nightmare right now and to think that could be the case just makes me feel even more hopeless. Does anyone have any experience with genetic testing with the NHS?

if it does come back that baby has inherited L1CAM, I will only be able to have baby girls. I can’t even imagine the anxiety I’ll experience if I get pregnant again after going 36 weeks with no problems.

Xxx

I’m sorry, I don’t have any experience of this to share, but just wanted to say that I am so sorry 💐

I've no experience, but I am so truly sorry for your loss.

So sorry for your loss op.. I have had 2 losses at 8 weeks....cant imagine going 36 weeks and facing such grief. Accept all the hugs you can. I hope you had time with your precious boy amd named him something wonderful..

I'm so sorry. I lost our first son at a similar time.

I'm sure they've proposed the testing for a good reason, but could you and your partner be tested instead? We have had generic testing and it took less than a year but sometimes they need to make probes for certain things.

I'm so sorry about the loss of your lovely baby, and also very sorry that there will be such a long wait for answers.

Is pre-implantation sex selection a possibility if it turns out that you carry the gene they're looking for? In your shoes, that's what I'd want to know, I think. A GP appointment or a private fertility consultation could be good ways to find out.

Sorry I meant to correct my post so please ignore the above.

For my genetic issue, I was tested very early in pregnancy to test that the pregnancy carried our mutation. We had CVS and amino, so worse case scenario we would have had to terminate early.

Also there is the harmony blood test too which is less invasive but was just being trialled 10 years ago so you may be able to do that.

I'm so sorry again.

My daughter was stillborn at 31 weeks in an otherwise perfect pregnancy so have some understanding, although she died due to a sudden placental problem. Just to say, very very sorry for your loss. Be kind to yourself. And call the Sands helpline to speak to a befriender if you need someone to talk to about your feelings.

I’m so so sorry, how incredibly sad and also worrying for you.

I have had NHS genetic testing, once via a CVS when pregnant with DC1 due to a high risk screen and then also blood tests on DC1 and DC2 when they were born as they were thought to have dysmorphic features. In all cases the results for the “main” trisomies eg Downs, Edwards were back pretty quickly (days) with a longer wait for more extensive testing covering a wider range of anomalies, but still only a few weeks’ wait.

I am not sure why any genetic test would take a year but I am no expert. I hope
you get answers much sooner and wish you all the best xx

Im so sorry for your losses, thank you, his name is Oscar xx

So sorry that you lost Oscar,

Please know he will always be remembered by your friends and family even if they don't mention him much in the future. Moments in your arms but in your hearts forever.

Regardless of the testing outcome your future pregnancies will be mentally and emotionally tough but you do get extra support.

SANDS is such a lifeline and community after losing a child so young.

MAMA academy is a fantastic charity to help with future pregnancies.

Thank you, as you can imagine I have been googling like crazy and have indeed seen info about the sex selection, but im unsure as to whether we would be eligible for that on the NHS. Such a shame as me and partner are able to get pregnant naturally which makes thinking of the future even harder after what has just happened. Thank you for replying x

Have you been in contact with your regional clinical genetics department? They will have clinicians and counsellors who will be able to give you more specific advice about any future pregnancies, as well as any information about Oscar as it becomes available.
I'm so sorry for your loss.

I am so sorry for the loss of Oscar. The pain is like no other.

My first son was stillborn at full term but we did not experience genetic testing so do not have any helpful information sorry but just wanted to reach out. It's truly devastating.

Like others have mentioned, Sands have been a lifeline for me. You might have a local support group with befrienders but equally the helpline is open a lot.

There's also a charity called Teddy's Wish who provide full funded baby counselling for families who experience Stillbirth, neonatal death and SIDS. They are amazing.

Again, I'm so sorry.

I’m so sorry for your loss. Sex selection is only allowed when one of the sexes is affected with a sex-specific disorder which you mentioned happened with your baby.

You may also be able to have free IVF on the NHS due to the chromosome issues with your baby but the funding for this varies on area.

I never thought for one second I would experience pain like this in my life, and i’m so sorry you have experienced it too. Im new on here for obvious reasons but have teared up already at the responses so thank you

I’m so sorry to hear OP. I lost a baby at 21 weeks 16 years ago. I know it’s terribly difficult waiting but the genetic testing we had done was helpful and a comfort in the end. I’m sure that they will offer genetic counselling if you need it so you can consider your options. Be kind to yourself and take time to grieve for Oscar. He sounds like he was a much loved baby 💐

Thank you, im glad I posted on here now as there are so many questions I should have asked the consultant back in the hospital but it is a big blur and I hardly remember most of it

So sorry for your loss; bless you baby Oscar

Oh it's such a minefield afterwards OP - take time to grieve but don't give up

had a MMC and a cp between my 2: it's such a hard time x

The worst girl gang, sands and tommys have lots of information and sands have an excellent helpline. They might be able to answer some of your questions or advise you about who to contact.

So sorry for your loss OP.

I had a TFMR when my baby tested positive for Pataus syndrome. I found ARC to be really supportive and informative. I believe they cover genetic testing too so it might be helpful to talk to them

Sending love

So sorry about your lovely Oscar.

We had genetic testing after dd was born (and died a year later). Me, DH and dd had whole genome sequencing. If they do find a specific genetic condition, you should be able to have a specific type of ivf (on the NHS) in future that checks embryos for the condition.

I am so sorry you lost your lovely baby 💔

If you have the name of the consultant, try the main switchboard to find out their secretary and then you could phone or email them anything you missed during your appointment. A lot of people forget to ask things in stressful medical appointments and I’m sure they’ll help you.

I hope you have lots of loving people around you to help you during this difficult time.

I'm so very sorry to hear about your loss. Sending you my best wishes 💐

Cant offer any practical advice other than what has been posted but i just wanted to say how sorry I am you lost baby Oscar. My sister had 3 MMC and the genetic testing did ultimately help her come to terms with it. Thinking of you x