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High nuchal translucency - causes

(7 Posts)
FindingNemoandDory Mon 11-Sep-17 17:31:44

Have posted in pregnancy too and poster kindly suggested here

4mm nuchal fold seen today at 11+6 ultrasound and got NHS dating scan later in week. Harmony tests hopefully back Fri-Mon

If NIPT is good, does anybody know chances of heart defect or rare disorder? Already considering full amniocentesis if NHS will offer it and so afraid of something terrible

Can there be benign causes? I have a virus at the moment and have flown recently

Thank you

Iwillbemrsminty Tue 12-Sep-17 21:10:43

Just wanted to offer a positive story OP. I have 8 month old twins and my little boy twin had a nuchal measurement at 12 weeks of 6.1mm which gave the combined screening risk of 1:14 for Down Syndrome and 1:28 for the other two syndromes. We had the Iona NIPT done which came back as very low risk for all three. For other reasons I had amniocentesis done at 29 weeks which also came back all clear. Both babies are fine and there's nothing wrong with either of them. Sometimes it can just be one of those things. I hope it is for you too op. Stay positive!

thisgirlrides Tue 12-Sep-17 21:21:36

When I had ds2, I too had high nuchal reading of 5.8 and combined results of 1:14 & 1:9 and I remember feelings not gutted (especially compared to ds1 who was in the tens of thousands). Further test was inconclusive so I had a cvs which ruled out chromosomal abnormalities but not heart defect so I was monitored regularly until birth and he appeared without a thing wrong with him grin. It is stressful and I really feel for you but please don't forget the test is just giving risk factors not definitive answers.

FindingNemoandDory Tue 12-Sep-17 22:00:44

Thank you both. I have been hearing positive stories. It would be wonderful if there were know benign explanations too that we could cling to rather than the not knowing and hoping!

Iwillbemrsminty Wed 27-Sep-17 16:40:10

Op just wondered how you are getting on, did you get your results back? X

FindingNemoandDory Sat 30-Sep-17 09:04:02

Iwillbemrsminty thank you for your message! CVS array has come back normal which is great news, we have fetal cardiac scan in a couple of weeks. I know there is still an association with genetic syndromes and am still really worried, but taking it one scan/test at a time! Trying to look it as we're lucky baby keeps being checked up on to give us the best chance for them smile

Iwillbemrsminty Tue 10-Oct-17 11:00:16

Fantastic news op!! Brilliant. I had the fetal cardiac scan too, it wasn’t what I imagined at all - I had visions of being wired up to all these monitors etc but it was just an ultrasound scan same as what I was used to but the consultant basically zoomed in on the heart etc and had a very detailed look. It was fine, please don’t worry about that. Nothing abnormal was found at ours, fingers crossed yours is the same. Day to day and scan to scan is the best way forward in my experience, and yes totally agree with that way of looking at it. Baby is being looked after extremely well and checked on so that is very good smile keep us posted, going to keep checking back for updates for you. Good luck xx

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