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Antenatal tests

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Abnormal 20 week scan

32 replies

CherryO88 · 13/08/2018 21:08

Hi, I’m 20w4d today and had my anatomy scan. There is a cardiac deformity, she wouldn’t say anything other than she could not see all 4 chambers of the heart. Also, which are worrying me even more so, she queried increases nuchal measurements and possible inturning of the feet therefore the risk of downs is high.
I am beyond devastated. I am 30 and have a 17mo DD and I just keep thinking of the impact this will have on her.
I have had bloods taken for the harmony test and awaiting referral for fetal medicine and cardiac.
Is there anyone out there that has been in a similar position? I am trying to cling to any possible hope that it is not chromosomal

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CherryO88 · 13/08/2018 22:28

Anyone?

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kmreeve · 14/08/2018 09:26

Are you being referred to a specialist Fetal cardiologist .. that should be the next port of call and they should be moving on this quickly.. if not, push for this ASAP. They will know more and be able to tell you what it is, what implications it will be for the baby etc.

Wishing you all the best sweetie

kmreeve · 14/08/2018 09:27

Also look into having a harmony test, this will tell you if the baby has downs.. or you should be referred by nhs for an Amnio

violet0805 · 14/08/2018 09:27

My friend had this, she was sent to London for a heart scan and everything was completely normal and she had a healthy baby girl in July. I know it's easy for me to say but try not to worry, it's not good for you or baby.

CherryO88 · 14/08/2018 09:47

I has the bloods taken for harmony yesterday, he said can take up to 10 days to get results back.
DH rang the referral hospital this morning, we are being referred to fetal medicine and cardiology. The nurse said they have our notes and it will be passed to consultant today who will assess how urgent our case is and we should hear this afternoon when we will be seen.
I just have a gut feeling it is DS but praying and praying it is a cardiac issue that can be corrected

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CherryO88 · 14/08/2018 09:50

violet did your friend have any other markers for chromosomal syndromes on her scan other than possible heart defect?

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violet0805 · 14/08/2018 10:24

@CherryO88

No, not that I'm aware of..
I know they told her the same as you regarding the chambers of the heart and said they couldn't see the blood flow to the heart properly. She worried herself sick for the couple of weeks it took for the scan in London, when she had it she was told all was normal.

kmreeve · 14/08/2018 11:23

I'm going for my harmony test Thursday, they do a scan too.. did they pick anything up on your scan yesterday?

My screening test came back 1:165 for downs so I do understand the worry xxx

StylishMummy · 14/08/2018 11:33

Oh gosh OP I'm so sorry you're going through this, I know a couple of people who've been high risk for downs and baby has been absolutely fine- fingers crossed this is the same for you Thanks

CherryO88 · 14/08/2018 13:07

They don’t screen for downs here in NI so I have no current risk factor but I would imagine it should be low enough just on my age alone but I know that’s no guarantee.
I’m really not sure I will proceed with the pregnancy if we have DS confirmed.

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HaveYouSeentheWritingontheWall · 14/08/2018 20:49

I was in your position many years ago, 2 heart defects were picked up on my 17 week scan, i was told that they couldn't see all 4 chambers,we were referred to a nearby fetal medicine unit and had several different scans there over the next few weeks, in all there were 4 defects the worst of which was Hypoplastic Left Heart Syndrome (left side of the heart hadn't developed) there were no chromosomal abnormality.

Cariadxx · 15/08/2018 18:28

In DS the most common cardiac abnormality is a hole between the left and right sides of the heart so the sonographer would still be able to see all 4 chambers. The inturned feet point more towards Edwards and Pataus. However the ultrasound scan is not 100% perfect and is very much dependent on foetal position and sonographer skill so it may all be normal

CherryO88 · 17/08/2018 09:11

Getting my harmony results around 4 this afternoon and seeing fetal cardiologist at 3. So at least we will know a lot more going into the weekend. Praying hard for a miracle

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Cantchooseaname · 17/08/2018 09:14

Such a difficult path to walk.
Knowledge will help you plan.
Hope it all works out.

CherryO88 · 17/08/2018 10:13

Thank you cantchooseaname this has without doubt the worst week of my life. Never been so scared

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weasledee · 17/08/2018 17:30

Thinking of you cherry, I've been in a similar situation waiting for results, I know how hard it is :(
Wishing you all the best....

Cantchooseaname · 17/08/2018 19:23

Hope you got some positive news, or at least can make peace with yourself.

CherryO88 · 18/08/2018 12:41

Unfortunately not good news. Baby has an AVSD and probably tetralogy of fallot. They were basically sure it would be chromosomal. I was told twice by the lab yesterday that I would receive my harmony results and then at 8 my consultant rang to say there was an issue with my sample and further analysis is being done so it will be another 3-4 days. After everything it was like the final straw. The test offers me no hope but I just need answers so we can 100% decide and make a plan. I am 21 weeks now so time is running out.
I have spent all morning crying my heart out while my baby kicks and rolls inside me, it is the most devastating thing I have ever experienced

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Singingitoverandoverandover · 18/08/2018 12:48

This is absolutely heartbreaking I am so so sorry ☹️ What a painful thing to go through. I know nothing of the diagnosis. Does it hold no hope? X

TheVanguardSix · 18/08/2018 12:52

Contact ARC antenatal results and choices. The forum was my lifeline. I was in your shoes twice. Sad

Regardless of your decision (to carry on or not) I send you the biggest hugs. May you find peace in your day and in your decisions. It’s a terrible place to find yourself in. SadFlowers

CherryO88 · 18/08/2018 13:09

singing the heart itself has a chance of being fixed although it does mean major surgery etc, it’s just that it is strongly associated with chromosomal disorders too, some of which are fatal.

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CherryO88 · 18/08/2018 13:09

vanguard did your babies have the same cardiac defects? Do you mind me asking how things worked out?

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triwarrior · 18/08/2018 15:37

Oh, OP, I’m aching for you. I’m so sorry. We terminated for medical reasons at 17 weeks and waiting for a definitive diagnosis (which I just had to, before I could make a decision about the pregnancy) was the most difficult thing I’ve ever experienced.

I wish you peace in the next few days. I’ll be praying for you all.

Singingitoverandoverandover · 18/08/2018 16:37

cherry I see 😞 that’s so difficult. I hope you don’t have to wait to long before they can give you some answers. What an awful time.

weasledee · 18/08/2018 17:50

I'm so sorry cherry, I'll be thinking of you Thanks