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No reference to other chromosomal symdromes in CT results?

(7 Posts)
HardCheese Sat 17-Sep-11 22:29:07

I am 39, in my first pregnancy, and had my twelve week scan a fortnight ago, with a NT of 1.3. Had a phonecall from my midwife to say my Down's Syndrome risk was 1 in 2,832, and a letter confirming this a few days ago. (I was thrilled.) However, I notice on other threads that people suggest I should have been given risk factors for other chromosomal disorders as well as DS, but there is not mention of them in the letter. Is this something I should follow up with my midwife?

Also, I note that other women of my age seem to regularly have private scans that offer more detail than the NHS one, which is making me slightly nervous. Is this something I should consider doing? Any advice welcome.

mrsbigz Sat 17-Sep-11 23:41:54

hi - i can only speak from my own experience, but with my first son i wasn't even offered a nuchal (didn't have them at the time at my NHS trust), with my second son i was offered a nuchal which came back low risk (and that only gave a risk factor for DS). with my daughter, the nuchal (which was 7.4mm) came back very high risk for DS (1:5) so i was then referred to the prenatal diagnostic unit in my hospital, we had an amniocentesis at 15wks which confirmed DS and that, along with other problems (a cystic hygroma down the length of her back, and potential heart problems) we sadly chose to end the pregnancy at 17wks - that being the right decision for us and our family.
I am currently 14wks pregnant now, and this time around we were under consultant care because of my history. i had an early scan at 8wks, and then rather than have the NHS nuchal scan, i opted for a private scan as they DO look for other soft markers and give you a risk factor for Edwards and Pataus syndrome (as well as DS). I chose to do this as i wanted as MUCH information as possible to hopefully avoid invasive testing this time around, they look for soft markers such as a nasal bone (which my NHS don't!). thankfully all seems to be okay so far.
I think what i'm trying to say is that i don't think it is general practice for the NHS to offer risk factors for all of the trisomys, and the ladies on here who are getting them usually have either been for a private scan OR have had a previous trisomy pregnancy so are under a higher lever of care as a result
I hope that this helps and puts your mind at rest. For what it's worth, 1.3 is a fantastic nuchal measurement, as is the risk factor you've been given so i don't think you have anything much to worry about.

mrsbigz Sat 17-Sep-11 23:42:29

am SO sorry - i also meant to say MANY CONGRATULATIONS on your pregnancy!!!!! grin

HardCheese Sat 17-Sep-11 23:59:01

Thanks, MrsBigz, that does help clarify. I know so ridiculously little. I'm so sorry your pregnancy with your daughter ended in such a heartbreaking way, and very glad things are looking good this time. Very best wishes to you in return for the rest of your pregnancy.

mrsbigz Sun 18-Sep-11 00:11:13

thanks Hardcheese smile

Also meant to mention that i'm 37 - so in that 'advanced maternal age-band' whatever they like to call it!!

Best wishes to you - i think the reassurance for you is that if they thought they'd spied anything that raised any concerns at your scan they would have referred you xxxxx

Cantdothisagain Sun 18-Sep-11 08:16:55

Hi HardCheese,

I am another veteran of the screening procedure, having lost one baby following the nuchal scan(nuchal risk 1 in 2), and one after the anomaly scan (having had a fantastic nuchal scan), both with conditions that meant they couldn't live. I also have a healthy daughter born before the 2 that didn't make it, and one born after. With my youngest daughter, they didn't give me an exact risk factor for the trisomies other than Downs at the nuchal stage, but did say that the risk of Edwards, Pataus etc was less than the risk for Downs (and that risk was very low in itself). They said new hospital practice was not to state those risks unless they were high.

Tbh given your age background risk, your risk is brilliant, and the risk for the other trisomies must be lower I think, so feel reassured.
Good luck with the pregnancy and congratulations!

HardCheese Sun 18-Sep-11 12:20:21

Thanks, Cantdothisagain, for sharing your own experiences, and your good wishes. I'm so sorry for your losses. Having expected to be ripped limb from limb on Mumsnet, I'm touched by how kind everyone is being.

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