Nuchal Translucency and Absent Ductus Venosus???

(3 Posts)
skyandmae Tue 07-Oct-14 03:24:00

I am 29 weeks pregnant and just had yet another (5th) scan and I am going out of my gord here. I was told at 14 weeks the nuchal fold came back thick at 4.5 so they sent us to the genetic counselor who told us it could be associated with a heart defect which my boyfriend has two children from his previous marriage with pulmonary stenosis. So I naturally started panicking while being confused because it didn't show up with his other two kids on anything. Well after an echo at 23 weeks they said it didn't look luke she had it but it could appear later because while in utero the pulmonary system isn't used as much because the lungs aren't being used. They also mentioned that she had an umbilical cord variable and today at 29 weeks I found out it was called an absent ductus venosus. So I googled......and now im in a raging panic again after 6 weeks of peace because its saying all this stuff about how it is linked to heart defects and how if you also have a high nuchal fold it makes it more likely and I am pretty much flipping out. Has anyone had anything like this happen and baby turn out fine? Oh I should I have mentioned the two kids he has have Noonan syndrome which is believed to be inherited from their mom because of her height but they are gonna be doing more tests i guess idk . But because of our daughter showing all of these things its making me panic......someone help .-.

mb2512cat Thu 09-Oct-14 11:10:53

Hi Sky - I'm so sorry you are in such a panic. If your boyfriend's children have been 100% confirmed as having Noonan syndrome then they should also know for definite which of the parents it has come from. If it definitely their mother who has it, then the issues with your baby are totally unrelated. If there's a chance that it could be your boyfriend who has it, then that would need some looking into. It's good you've seen a genetic counsellor as I hope you might have talked these things through? Is he or she aware of the issues with your boyfriend's first children? What are your next steps with the hospital? Are they an bing more tests or scans? I wish you all the best - these scans can generate enormous amounts of worry - I have been on the receiving end many, many times unfortunately. Fingers crossed for you that it's a false alarm.

Bronnells Thu 02-Jul-15 11:51:26

Hi Sky,I've just been diagnosed with absent venosus ductus and high NT of 6. This is just 6 months after I had a termination at 17 weeks due to NT of 7.1, absent venosus ductus and a heart valve on the wrong side. In both cases all CVS results were normal. They said it was extremely rare for it to happen once but now it looks like I'm facing a similar outcome again. I'm devastated and just can't understand why, nor can the consultant. I hope you had a good outcome but wanted to check if anyone has experienced this before?

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