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Amnio or NIPT?

(4 Posts)
Onedaymyluckwillchange Tue 10-Sep-19 14:07:53

I’m really confused and need to make a decision quickly as 20 weeks pregnant. I had a low risk NHS combined test 1/2,800 and no reason to think there would be any issues. However my 20 week scan revealed a congenital heart condition. This was confirmed by a fetal cardiologist yesterday. It was explained what would happen at birth to rectify this condition which would mean death if no operation. The prognosis however, looks very good with no long term issues and child being able to live a normal life. This particular issue is usually isolated on its own with no genetic link to trisomies, Edwards or pataus. But very scary and came as a real shock.

The thing is, I’ve suffered recurrent miscarriage and have always had a little niggle about this baby possibly having some chromosome issue. The fetal nurse and consultant I saw did ask if I had thought about having an amino. Because of suffering recurrent mcs, this option obviously scares me as I’ve been in that 1% before. However, it would give me the answer and be able to check for other chromosome issues which the NIPT does not.

I just feel so lost and alone as this is all down to me. DH will never take the lead. I feel we have had enough on our plate with a baby being born and needing immediate life saving surgery without the added shock of a disability as well.

I have a young DC already and need to think about how all this impacts them as well.

Ivfmommy2b Tue 10-Sep-19 21:57:56

@Onedaymyluckwillchange hi there. Sorry to hear your going through this. What is the heart defect? I have just been through a similar situation, heart issue detected at 20 wk scan, scanned a few days later by cardiologist & fetal medicine doctor. They confirmed a right aortic arch & said this could be linked to a chromosome problem, mainly digeorge syndrome. We decided to have the amnio, this was very scary given the risks, but they said it was low. Waited an agonising 2 weeks & thankfully all came back clear. Having another heart scan next month to double check. It’s such a difficult time. I’ve had ivf twice to become pregnant after 10 years of infertility, so it’s been really difficult xx

Onedaymyluckwillchange Wed 11-Sep-19 22:13:45

@Ivfmommy2b sorry to hear you've been on such a rough journey and thank you for replying. How many weeks are you now? Will baby need an operation at birth?

We've been diagnosed with TGA transposition of great arteries. The news hit us like a sledgehammer.

I decided to go for you NIPT in the end. I was all over the place yesterday, it was the fear of causing a miscarriage after having had 3. I'm really fearful. It's all so frightening.

Ivfmommy2b Thu 12-Sep-19 07:12:03

@Onedaymyluckwillchange, no problem, I am now 24+3. The baby won’t need an operation at birth, but may need 1 later on if a vascular ring develops as it can cause breathing & swallowing difficulties. I’m having another scan next month by the cardiologist to look st the heart. I’m praying they don’t find anymore issues with the heart & that they just c what they saw b4. I don’t know anything about your heart condition, but they can do so much these days & it’s brilliant that the baby should be fine after the operation, obviously it’s so awful to watch your baby go through an operation. It’s also reassuring that it isn’t linked to any chromosome issues. I get why you would want t check. My doctors didn’t actually recommend the nipt as they said it’s not fully accurate. Xx

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