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Original poster

Nuchal scan results a worry

42 replies

NatzCNL · 25/08/2010 23:56

Hello,
I am new to mumsnet. I am pregnant with my 3rd child, I have 2 daughters ages 2 and 3 years. We had our 12 week scan today which delivered bad news.
It showed an increased fluid on the babys neck and around the head, measuring 9.8mm.
The sonographer told us it was almost definate that our baby has a chromosomal abnormality and has referred us to Kings College, London for further testing this friday. I had my bloods taken and should hear back tomorrow.
Me and my husband are heartbroken. We are both 29 and were totally unprepared for todays findings.
Is there anyone who can give advice on what to expect? Has anyone else had such a high nuchal reading and gone on to have a baby without any chromosomal problems?
I have googled nuchal scanning results, and have been unable to find anyone who has had a reading more than 6mm. I am so worried and upset x

OP posts:

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NamedAfterTheBandActually · 26/08/2010 00:01

I haven't any experience of this and I'm sorry. I can't imagine what you are going through.

This website is supposed to be very good. I know a friend had a lot of support from them.

Original poster

NatzCNL · 26/08/2010 00:13

Thank you for the website, I will be calling them tomorrow.

OP posts:

missedith01 · 26/08/2010 00:15

I think that's a high reading but was your sonographer qualified to take a nuchal scan? I believe it involves specific training and isn't something any sonographer can do competently. Also the result of a nuchal test as I understand it is a probability based on the scan plus bloods plus a few other markers (presence of a nasal bone on so on) ... you've had your dating scan(?) and bloods taken today so I'm wondering if the further test on Friday is the actual nuchal scan?

I've had two really crap nuchals and gone on to have a clear amniocentesis in both cases (one was a 1 in 33 chance of Downs and the other a 1 in 8). A friend of a friend was told she had a 1 in 2 chance after a nuchal and went on to have a healthy baby.

I hope you get better news on Friday, OP. It's hopeless to say don't worry but there's lots of support here if you feel the need to say "wah!"

Original poster

NatzCNL · 26/08/2010 00:25

We should have the blood results back tomorrow which will give us a clearer indication of the meaning of the amount of fluid.
They are going to re-scan us on Friday and will probably have the CVS (?) too?

Initially before the scan we were told we wouldn't have any results till the bloods came back, but after she did the scan, she told us it was highly likely that baby has chromosomal abnormalities. They are rushing our bloods through as they usually take 2 weeks, but we should get a phone call tomorrow.

I cant think about anything else. Our families keep telling us the hospital could have got it wrong, we hope that is the case. There was just so much fluid.

Thank you for your message, I hope I can get back on here on friday with more positive news. Fingers crossed

OP posts:

lucy101 · 26/08/2010 12:04

Kings College is a very good place to be as they are closely allied to the FMC. It is a terribly scary time for you but you may still have good news. ARC are amazing - you can just ring them up and talk - and I found them a real lifeline when I was in your position. They are at:

www.arc-uk.org/

Also take a look at the board here:

www.mumsnet.com/Talk/antenatal_tests_choices

There are lots of mums there who have been in your situation, some with happy results and others with sad stories but I am sure you will find some support/comfort.

Wishing you better news, take very good care of yourself.

SoozleQ · 26/08/2010 13:43

One of my friends was in a similar position - I think the reading was over 6mm with fluid on the stomach as well. They also used the "almost definte chromosonal abnormality" line and even offered her a termination there and then at one of her appointments(!)but her CVS came back all clear and follow up scans a few weeks later have shown the fluid has reduced down to normal levels. She's currently about 19 weeks with a scan booked in to specifically look at the baby's heart but is otherwise absolutely fine and has been hearing a nice strong heartbeat at her midwife's appointments.

I hope everything works out well for you. My friend's experience has definitely shown me that these tests and results are merely indicators and their "almost definite" certainly doesn't actually mean definitely.

Original poster

NatzCNL · 26/08/2010 16:10

Our blood results came back this morning, with a high risk for Downs and other chromosomal abnormalities.
Thank you all for your words of advice and support. We are booked into Kings tomorrow for the CVS, I am just hoping like your friend SoozleQ, that the results return as normal. We've been told we may have to wait up to 3 weeks for the results. Luckily my husbands work have been very kind and signed him off for two weeks.
My eldest daughter yesterday asked me if I had a baby in my tummy as it looks round. I almost cried. :(
I am going to call the ARC today as I cant quite get my head around all of this.
Am terrified about the CVS tomorrow. But even more scared about the results.

OP posts:

prettysunset · 27/08/2010 00:55

Missedith01...Sonographers are independent practitioners, studying a 3 year Bsc (hons)in Diagnostic Radiography before a 2 year post grad in Ultrasound. We train extensively from there on in in every new techique and are not allowed by law to perform new techniques such as NT unless we have been deemed competent by a governing body.
These tests are 'screening tests' so of course some normal babies will be shown to be high risk...vice versa some Downs babies et al will 'slip through the net' NatzCNL, my thoughts are with you, best to direct ant firm questions to your Midwife or prenatal diagnosis team for concrete advice. Xx

missedith01 · 28/08/2010 09:14

andyflo - just to clarify, wasn't meaning to imply sonographers couldn't ever do the nuchal, just that anyone who did would have been trained specifically. Would it be normal practice to inform someone that they are high risk after the scan w/o the results of the blood tests? Not in my experience, but that might just be the way it's done round here ...

Sorry to hear about your results , OP ... I hope the CVS comes back negative for you.

Original poster

NatzCNL · 28/08/2010 10:22

Hi all, we had our CVS at Kings College yesterday and a repeat scan. Unfortunately, the scan showed that our baby has Hypoplastic Left Heart Syndrome, we had a consultant Cardiologist diagnose it. She gave us very little hope that baby is going to have much of a life outside the womb.
It also showed an absence of the nasal bone, which is another indicator to Downs Syndrome.
The CVS was awful and quite painful, although the staff were amazing, and I have so much admiration for all the wonderful staff who have to deliver heartbreaking news to expectant parents.
I had a huge bleed a few hours after the CVS and rushed straight to our local hospital, they couldn't say if I was at the begining of a miscarriage (there is a 1% risk after CVS), so have to wait until Tuesday to get a full examination - due to the bank holiday. Why is every department in the NHS open 365 days a year except the scan department...?!
No bleeding today, feeling bruised and tearful. We should get the prelimary results of the CVS either Weds or Thurs (results for Downs, Turners, Edwards and Patau), and full report in a couple of weeks.
Im sorry to come back with such a negative report, I just cant really talk to my family as they are all so positive and keep telling me it could all work out, but even the experts have very little hope, so how can I?
My wonderful husband has been a rock, we are just keeping busy and waiting. It will be a very long bank holiday.

OP posts:

clarebear1 · 28/08/2010 10:31

Aww NatzCNL just caught up with your thread what very sad news, never been in this position but im sending best wishes to you all x

prettysunset · 28/08/2010 15:17

Bless you NatzCNL...love to you all. Xx

hairymelons · 28/08/2010 15:23

So sorry it wasn't better news. I've been in your position and the wait is unbearable.

Original poster

NatzCNL · 28/08/2010 15:40

Thank you all. We are waiting for the results of the CVS before making a final decision. I know I may be clinging to the last threads of hope, but I am going to ask for a second opinion on the prognosis for HLHS, I accept the diagnosis, but am hoping it isn't as severe as the Cardiologist said it was.
I have been reading up on HLHS. I cant bear the thought of putting my baby through all that. If there is any chance she was wrong I have to know.
Hairymelons, did your child have HLHS too? Im sorry to pry x

OP posts:

eminty86 · 28/08/2010 16:17

I am so very sorry for what you are going through!!!!
I had a 1:2 risk for downs with my dd, and in view of my hubbys health problems(renal failure-he had a functioning transplant then which has since failed) we knew we couldn't cope with a very handicapped child.
But I know what you are going through and my heart hurts when i think what you are feeling at this time.
It doesn't sound hopeful, but you'll know what is the best to do when you have all the info. Its the waiting that is soul destroying.

tryingtobemarypoppins2 · 28/08/2010 16:45

NatzCNL just wanted to send you an enormous hug. This must be such a hard time for you. I'm so sorry you haven't had better news.
A friend of mine raised money for the charity below, link below, they may be of use to you.

www.lhm.org.uk/

Original poster

NatzCNL · 28/08/2010 17:24

So sorry to hear about your decision too eminty86, and about your husband, I hope he is ok?
Thank you tryingtobemarypoppins2, I have looked on that site and I think they are all amazing, I was given the website also by another mumsnet user.
I cant believe how much support I have got from here, and am so glad I found this site at this difficult time. It has given me so much strength xx

OP posts:

eminty86 · 28/08/2010 17:39

Thank you NatzCNL!He desperately needs a kidney. His brother has offered so we're waiting to see how that goes. It makes such a difference doesn't it, to know people care so much?
Good luck this week, I'll be thinking of you.Please post your results if you can, can't stop thinking of what you're going through.

xxxx

pinkheart · 28/08/2010 17:45

thankyou andyflo, was about to jump in with the post grad and qualifications we have etc as sonographers. missedith01, with a thickened nuchal over a certain size at my hosptial we still inform parents and advise the parents to visit the fetal medicine consultants. even if the parents do not want screening tests, with an overly thickened nuchal we refer our patients for advise and consultations. We no longer use soft markers such as you mentioned due to studies showing there was no links between specific pathologies and the presence/absence of soft markers.

Alibabaandthe40nappies · 28/08/2010 17:50

Natz how awful for you :( Really hope you get those results through quickly.

missedith01 · 28/08/2010 20:38

That's interesting pinkheart thankyou. I might have seen some non-standard practice because I miscarried after an amnio (prob due to an infection picked up as a result of the procedure) and the second time around the lovely doctor who did the amnio looked at everything to see if he could reassure us enough so that we wouldn't have to go through with it. Nasal bones, heart structure, thumbs and I don't know what else!

I'm mortified at having come over as -ve about sonographers - I was scanned an awful lot last pregnancy due to complications and I never met a more professional bunch. It was one of you lot that told me my first baby had died when the consultant was "in a meeting" Apologies for expressing myself so badly.

Truly sorry to hear what your going thru, OP. I hope there's better news for you soon.

hairymelons · 29/08/2010 17:51

Natz, sorry no- by in your position, I just meant that interminable wait between the nuchal scan and having some concrete information.
We didn't have a heart scan until 18 weeks and got the quad test results back at around 20 weeks. The heart looked ok and the quad test results were more positive than the nuchal results so we are very lucky.
Do seek out a 2nd opinion. Have you had support from the screening midwife at the hospital? Ours was fantastic and arranged for us to see a consultant in fetal-maternal medicine who talked us through everything- including the difficult bits about how they would advise we manage the pregnancy/ birth and any problems that could arise after the birth.
So sorry you're going through this.

AmIGoingMad · 30/08/2010 18:56

Natz- I'm sorry to hear what you're going through. Will be thinking of you. x

Original poster

NatzCNL · 02/09/2010 17:43

We got the prelimary results from the CVS today. Our baby has Turners Syndrome as well as Hypoplastic Left Heart Syndrome. The midwife I spoke to today told us there was a very low chance baby would survive.
We are seeing a consultant to discuss eveything in detail.
Cant believe this is the result. Feels very unreal, and we are hurting so much. :(

OP posts:

jeffily · 02/09/2010 20:11

Oh Natz, I'm so, so sorry. I posted on your HLHS thread and have been looking out for your news since. Nothing I say can help, or take any of your pain away, but I am here and I am thinking of you over the next few days, weeks and months. Keep posting, if you can bear to.

I hope that the consultant you see is good and makes everything as clear for you as possible, and that the decisions you have to make and the next few weeks pass by as quickly as possible for you. It seems like no help to you at all now, but time is a great healer and once you are through the next bit you can start healing.

Sweetheart. I wish I could help in some real way, but typing is all I can do. No one should have to go through this. Take care of yourself.

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