Sonographer diagnosed holopresencephaly

(72 Posts)
Hope26 Sat 19-Apr-14 18:59:36

Hi all.

Last Wednesday I got given the worst news of my life. This is my first pregnancy and they detected NT at over 3.5mm. The ultrasound scan at 13weeks 5 days showed the baby had a flat face, couldn't see nose. They told me the baby will not survive and it looks worse than Down syndrome. I have been asked to come in the next two weeks for an amnio test to confirm what is going on. Anyone experienced the same thing? Any advice will be very helpful. I am so confused right now and have lost my appetite completely. Thanks

Onlysteelheals Sat 19-Apr-14 19:07:54

I don't know what to say except I'm sorry you're going through this.

Is your dp/family around to support you? Take it easy - try and nibble on toast and have tea with sugar to keep your strength up.

Hope26 Sat 19-Apr-14 19:10:55

I can't think of anything else except this and te wait is a killer. I'm in utter shock. I'm hoping to speak to people in a similar situation who can advice me or share their experiences. Yes I have a loving husband, and a supportive family but I can't help feel this anxiety and depression. Once I go back to work I'm hoping I will not think about it

gunwalloe Sat 19-Apr-14 21:39:52

Sorry your in this situation I hadn't even heard of this condition until I read your post. Did they not pick up any signs at the 12 week scan?

gunwalloe Sat 19-Apr-14 21:46:55

Sorry for some reason I read wrong I thought it was at the anomaly scan

Hope26 Sat 19-Apr-14 22:01:43

they didn't pick anything up at my 11 week scan (they thought i was 12 weeks).Told me to come two weeks after. I've seen images on google and read up on it and it looks really bad. I'm just praying for a miracle now and hoping things improve as I have my 16th week scan on the 29th. So stressful. In a second my life turned upside down.

BobbyGentry Sat 19-Apr-14 22:14:24

Hi,

Sorry for the tragic difficulties you are experiencing right now. The important thing is that you & your baby are loved and, no matter what happens, that remains. The charity ARC will be worth the while contacting ARC www.arc-uk.org/

"ARC is the only national charity which provides non-directive support and information to expectant and bereaved parents throughout and after the antenatal screening and testing process"

You have a very hard road ahead and ARC can help; best of luck.

Hope26 Sat 19-Apr-14 22:26:07

Thank you Bobby. Please pray that the amnio comes out clear and there is rapid improvement in the baby's development on the 29th! Still hopeful for a miracle

HappySmileyFace Wed 23-Apr-14 14:21:21

Hello Hope,

I have been through this - my first pregnancy also. It was a very difficult time (I would advise staying away from Google). Honestly the waiting and unknown was truly the worst part of it all. I was told at 12 weeks that they suspected something wasn't going well and had this condition confirmed at 17 weeks (took a while for reasons outside of the pregnancy). For our baby it was not compatible with life.

I hope that things turn out ok for you. No matter what, you will be ok.

(I went on to have 2 very uneventful pregnancies after this happened).

Thinking of you.

Hope26 Wed 23-Apr-14 16:24:33

Hi happy

I'm sorry for your loss. I'm still in a shock that I'm in this situation. I want to ask you something's if you don't mind?

Hope26 Wed 23-Apr-14 16:42:24

I have sent your a private message x

Hi Hope,I'm sorry to hear your baby may have some issues thanks

My first daughter had the most severe form of HPE and lived less than an hour after her premature birth. Google can be very scary so I too would advise trying to stay away from it, difficult I know.

If I can be of any help please feel free to PM x

Hope26 Wed 23-Apr-14 17:16:28

I have sent you a message don't know if you have received it? That sounds very awful but it's amazing how you didn't terminate the pregnancy. I'm so worried and praying its all a mistake or a miracle happens..

I didn't google for about a week when I found out and then I couldn't stop myself. Everything I read is very pessimistic. I'm assuming you didn't get any tests done as you decided to go through with the pregnancy?

HappySmileyFace Wed 23-Apr-14 17:22:57

Sorry you experienced this also plum and sorry for your loss

Have pm'd you Hope

I've also PM'd you.

Sorry to hear about your little one too Happy x

Hope26 Wed 23-Apr-14 18:57:26

Thank you ladies for your support I will keep you all updated x

Hope26 Thu 24-Apr-14 17:03:11

Amnio is on Monday afternoon instead of Tuesday. hopefully it will go well

TheBabyFacedAssassin Thu 24-Apr-14 17:11:07

Hi hope, so sorry to hear you're going through this. I really hope that you get positive news from your amnio.
I got the diagnosis at my 20 week scan that my baby has a condition that is incompatible with life. I'm now 30 weeks pregnant. I'm in Northern Ireland where termination of pregnancy is illegal, even for medical reasons. I truly hope that termination is not an avenue that you have to consider but if you find yourself there and want someone to talk to please feel free to get in touch. There are many amazing women here who have empathy and advice who have gone through a termination in similar circumstances to yourself. I can maybe be of some support to you if you choose to continue.
As I said, and I emphasise, I really hope you don't have to think about that but if you do I am here for you.

Hope26 Thu 24-Apr-14 18:10:59

Thank you so much for your support. This forum is probably the best forum I have come across with so many supporting women who share their experiences. I really hope your baby is healthy and it all works out for you. I will keep you updated on the test results. If I can provide an insight into any condition I will be more than happy to share my findings.

Thanks once again

2kidsintow Thu 24-Apr-14 18:17:39

There's a facebook page for a little girl born with this. Her name is Charlie Dawn Rinard.

Hope26 Thu 24-Apr-14 18:41:21

She is beautiful and a little soldier! ❤❤❤❤❤❤

Hope26 Mon 28-Apr-14 13:28:24

Im going for my amnio test now.. Excited to see my baby but worried about its development. I will keep you all updated.

Sahkoora Mon 28-Apr-14 15:48:29

Will be thinking of you,Hope, and waiting for news. Stay strong.

Hope26 Mon 28-Apr-14 18:50:21

Hi all

Came back from hospital. Didn't need to do amnio as my baby's heartbeat stopped. it's awful but then again a blessing in disguise. It was very sick and nature took its course. However the doctors still don't know what happened to it as even at 16w it wasn't growing. It was still measuring 12 weeks. I don't know the sex of the baby that can't be determined either. It's all a mystery. Whatever happens happens for the best, I know my angel is with God in save hands. All the best to you all, I hope you all have healthy babies xxx

Oh Hope, I'm so sorry. Wishing you gentle days ahead. Much love thanks

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