12 week scan yesterday - 1 in 3 chance of Trisomy 13 or 18

[GEH]

Hi ladies,

Had my 12 week scan yesterday and as per headline it wasn't the best news. Baby looked so perfect in every way, was very active, counted fingers and toes, checked all vital organs etc. and they said they couldn't see a thing wrong with him (they're 80% certain it's a boy) BUT part of his bowel was still in umbillical cord and this should have gone back in as it does with all babies at 11 weeks/4.5 cm. Mine was measuring 5.1cm and 12 weeks 1 day. I am slightly dubious on dates as I was pregnant with another baby and hadnt yet miscarried 12 weeks and 2 days ago, but obviously the size is pretty indisputable.

My bloods were also perfect, nuchal measurement super low etc. but my risk rate went from 1 in 44,000 to 1 in 3 with this bowel out diagnosis. They medical team were amazing - I went to Fetal Medicine Centre on Harley Street - and they've got me back in for a second opinion and to go through options again today. They've said it's very rare to see an otherwise healthy baby with this and it be Trisomy 13 or 18 but that it's not unheard of and the risk still stands. They recommed I have CVS or the harmony test ( although the accuracy for these abnormalities is only 75%) and should work this out today.

Just feel so sad and worried. After three miscarriages in the last year I really thought this was going to be it, and after already having 5 scans (non of which picked it up!).

Has anyone any experience of a story like this? Any advice on CVS, if its worth the risk etc.

Thanks x

 

[Binzy]

Sorry, I don't have any experience of this but can completely understand the panic you must feel. I'm sure there are lots of ladies who can advise you. Big hugsx

 

[Mummyof3tobe]

Sorry to hear your worrying news. I don't have any experience either but I know a couple of mummies to be on here have had either cvs or the harmony test so hopefully they'll reply x

 

[twixi]

Sorry to hear this but it sounds like they're taking good care of you and getting the best advice. Take care xx

 

[lozzalozza]

Hi I had cvs about 2-3 weeks ago. It was ok, it kind of hurt but not unbearable and was over pretty quickly. I was really happy with the doctor as I could see on the scan that the needle was nowhere near bubba but it was quite an aggressive procedure in that the needle was moved back and forth about a dozen times to get the sample which I wasn't prepared for. Anyway we got our first results in 48 hrs which showed we were clear for Edwards, downs and pateaus ( don't know how to spell that) and the rest of the results came yesterday. After the procedure I took 2 days off work to rest and felt totally fine no pain or bleeding afterwards. So I would say go for the test then you know what you're dealing with. I'm so sorry this is happening to you it is devastating xxx. Good luck x.

 

[GEH]

Thanks so much for all of the advice and responses. Went back today for a second opinion with a more senior consultant and outlook still the same - perfect baby, no obvious abnormalities other than this small intestine still being in the cord. I decided to opt for the harmony test initially as it has a 98% rate for trisomy 18 and they know it's not 21 and almost impossible to be 13 due to the fact no other structural problems. From this they will either confirm I'm high risk or almost rule out the chances so I can decide if need CVS. I just felt like I had to try this initially as the thought of the CVS is just terrifying. Thanks for sharing your experiences Lozza and so glad all was ok.

Just feel so lost and sad and like I love baby so much already. The next two weeks are going to be hell xxx

 

[Bev999]

Hey, sorry your going through this do you know what is involved in your harmony test? I will keep my fingers crossed all is ok. Xxx

 

[GEH]

The harmony test is literally a blood test but they send it off to the US to a specialist centre. Apparently it's 99.9% accurate in diagnosing downs, 98% trisomy 18 and 80%ish for 13 (but this is usually visible on ultrasound due to abnormalities). By all accounts it's the new big thing in testing to avoid unnecessary invasive tests. I figured it was worth trying this route first V CVS as if it comes back low risk the chances of it being anything other than a small issue that may correct itself/need an op at birth are v slim. Article on it here http://www.dailymail.co.uk/health/a...carriage-Screening-accurate-safer-babies.html

Would highly recommend the Fetal Medical Centre- the service and care was amazing. They saw me the second time free for a second opinion x

 

[Dotty_woman]

Sorry to hear you've had this news and hope you are OK. It is less clear cut with Trisomy 13 and slightly less for18 as part of the Harmony test as you say but I must agree that the staff at the Fetal Medicine Centre were excellent and very thorough. I had the Harmony test and was lucky enough to get a good result for Trisomies 13, 18 and 21. That's a tough decision particularly when you think you might be at risk of one of the less common Trisomies. What does your gut instinct tell you to do? If you are worried about the risk if miscarriage from the CVS/amnio, maybe the Harmony test migt be the way to go. A blood sample is taken and sent off to the States for chromosonal analysis. the results take the best part of two weeks to come back. If the Harmony test suggested a high likelihood of one of the other Trisomies I believe a CVS or Amniocentesis is recommended to confirm the findings but by that time you will already have an indication that 13 or 18 may have been detected. If the cost of the test is an issue, maybe the CVS is the way to go. Good luck with whichever option you take. xxx