Nuchal fold tests

[bozzy]

Hi, I have just spoken to my friend who is in shock because she has just had her 12 week scan which, after age consideration (just turned 40) the scan has come back at a 1 in 15 chance of downs sydrome. How accurate is the nuchal fold test and what chance is there of a miscarriage if she was to have an amnio (which she is reluctant to do)?

My understanding is that an amnio carries a 1% chance of m/c, but I'm sure others know more about this stuff than me. Hope your friend is ok.

hi bozzy, don't know that much about this, but i hope someone comes along soon. The usually quoted risk of miscarriage following an amnio is I think between 1 in 100 and 1 in 200. I am not sure if age affects the rate or not. There is also another invasive test CVS that I think can be done earlier than amnio. Again though that would also have a risk of miscarriage. They might get a better idea as to the likely accuracy of the nuchal fold scan by reading the nuchal fold test results in conjunction with blood tests - AFP tests that I think are done about 15/16 weeks. Has your friend been told what the next steps would be from the medics point of view?

Hi again, my friend is considering a blood test and it was suggested that she got in touch with a midwife to discuss further options - she also has postnatal depression so this is the last thing she needs to worry about! She only had her scan this morning so she is in shock and i would love to be able to tell her something positive and supportive!

bozzy your friend should ask to be put in touch with a genetic counsellor, i did at the hospital where i had my 2 girls, and she didn't mind how often i rang her. i had amnios with both my pregnancies and would have opted for termination if i hadn't had a good result, especially as what they were looking for was Edwards syndrome,less common than Down's but much more severe (ie it's normally fatal within a year). if your friend would not terminate a downs pregnancy then i think the obvious answer is for her not to have the diagnostic test. the blood tests for various levels of hormones can only be done as mummytosteven says in the 2nd trimester, and these were what my obst. picked up (my nuchal measurement was well within normal limits), but turned out to just be on the low side of normal. i had further growth scans, but dd2 turned out a bouncy healthy 8lb 9.5oz. my consultant did my amnio (both times) and did a thorough scan at the same time - one of the markers for the syndrome she was looking for was crossed-over fingers and toes and she kept saying what lovely toes my baby had. it was v reassuring. having said that a friend of mine had a miscarriage following amnio and although she went on to have a beautiful daughter, she's never had the 2nd child she longed for. in the end it's a v personal decision for your friend, and at 40 I bet she feels time is not on her side, x

Hi bozzy - I've also been told that miscarriage risk rates for amnio are around 1%. Also the nuchal fold test is only a risk assessment - so all it's telling you is that if you had 15 friends who had all received the same assessment as your actual friend, one of them (probably) would have a downs baby. Put it another way - your friend has a 14 / 15 (ca 93%) chance of having a non-downs baby. All of this is really difficult because she doesn't care about the risks, or the odds she just cares about what happens in her one case.

She should seek advice and support from the medical staff about further tests, since they do carry risks. Also there are some wonderful mums of downs children here on mumsnet who may be able to offer words of wisdom on this subject.

also, the chance of having a baby with Down's syndrome increases with maternal age. The risks are calculated as follows:

25 years old: one in 1,400
30 years old: one in 800
35 years old: one in 380
38 years old: one in 190
40 years old: one in 110
45 years old: one in 30

so - if you were 38 when you were last pregnant like me - a good result would be 1/200 risk, but that wouldn't be a v good result for a 25 yr old.

Hi bozzy, there was a good thread on this a while ago re a MN-er who was unsure about whether to have an amnio, and a lot of MN-ers with children with Down's (Thomcat, Sinclair, Eidsvold) responded with very helpful comments. FWIW the nuchal scan just gives a risk, as does the AFP one, and TBH proves nothing either way. I think your friend needs to decide whether she would terminate a baby with DS, as bundle says. I guess at her age she really wants to avoid a mc of a healthy baby. The amnio risk is quoted as 1%, but from what I can understand it varies according to how good they are at doing them - ie if you go to a big city teaching hospital the risk may be much lower. That or CVS is the only way to know for sure tho. HTH

Bozzy just to echo what others are saying, your friend needs to work out what she will do if she is carrying a child with DS. I and other mums of DS children have posted on other threads - search amnio - but the crucial point is that if she feels she can't cope with DS she will know what to do. If she decides she wants to keep her baby whatever, then the dignostic tests are purely for peace of mind. I always say that I am glad I didn't know about DD as the worry would have ruined the pgy - reality is quite different to what I could have imagined. BTW I got 1 in 1002 for DD at my nuchal scan.

Hi again, thanks for all your advice. My friend would not consider an abortion regardless but I think needs peace of mind, especially because she has had this depression. I'm not sure whether to talk about the positive things with regard to downs syndrome (ie there is a lot more understanding about ds now) or to try and be positive that it isn't ds?....

once she is about 20 weeks she could have more detailed cardiac and other scans which would show other "soft markers" for downs, and whether the baby's heart and other organs look ok i.e. she doesn't have to have any invasive tests, tho unfortunately only the invasive tests are the accurate ones.

Bozzy - where does she live and could she afford to have a second nuchal fold scan combined with a blood test privately (costs £150)? If so I would strongly recommend the fetal medicine centre in london which is the private arm of Prof Nikolades outfit (he invented the nuchal fold test). My first nuchal fold at NHS hosp was stated at 1:120 (v high for my age) i had a second test there plus blood test and was restated at 1:6500. I was still very anxious throughout my pg but ds is fine.

Had I needed to I would have gone with them for my amnio, according to docs and midwifes I have spoken to the chance of miscarriage is all down to the hand of the doctor doing the procedure. So I would recommend her taking her time and checking things out before rushing into an amnio or CVS.

hi Bozzzy, I started the thread that Clary mentioned. I cant work out how to do the link but it's an archived message called "tests offered to older mums".

I really feel for your friend and it's great that you're doing what you can to support her. I didn't have any tests for these very reasons because if you know you wont act on any negative results, you just put yourself through hell and back for the remaining months of your pregnancy dont you?
I for one can tell her stories of people having ratios even lower than hers who went on to give birth to wonderful healthy babies and i'm sure others can too.

Bozzy, I am a mum to a darling little girl who has DS. I didn't know until she was born, so I really can't help with the tests, accuracy..etc. I chose not to have any tests,I think deep down I couldn't have done anything about it even if I had known, particuarly because I had just gone through 16 weeks, 24 hrs a day of "morning sickness!" I was so aware of the baby inside me. I was 35 at the time.
I would be very willing to answer any general questions about DS, and what it is like for the family as a whole. I can't promise to know the answers but I can put a different perspective on things possibly.
Feel free to CAT if needed.

Many thanks for your responses everyone - I am seeing my friend tomorrow morning so at least I have some positive things to tell her - thanks also to Dingle - it is reassuring to know that there are people out there willing to share their experiences whatever the outcome may be.

The risks quoted by others are fairly accurate... re amnio. I was 33 when pregnant with dd and chose not to have any tests ie blood, nuchal fold etc. At 20 weeks dd's heart defect was detected and we were also told she would have ds. We had already decided that we would have this babe no matter what ( originally local hospital thought heart defect was a more serious one than she had) I was offered an amnio and chose not to have one. Again - simply becuase it would change the outcome once I had the information.

I am pregnant with no2 and despite a higher risk than normal of having another child with ds I again chose not to have a nuchal fold or the blood tests. However at the 20 week scan they detected a very soft marker for ds... again we decided not to have an amnio as again it would not change the outcome. That soft marker increased my odds a little higher in terms of having another child with ds.

Having said all that - it really is a personal decision - if your friend really needs to know then the only sure way is via amnio. I feel if it would not change the outcome and she would continue with the pregnancy then personally I would not put myself through an amnio.

For what it is worth - I do not regret having my dd one bit despite the tough times we have had in terms of going through her heart surgery. Those tough times are far outweighed by the amazing times.

here is the thread someone mentioned earlier

here

like dingle said if your friend has any questions she is more than welcome to contact me.

Have been searching around for info tonight. Have visited DSA website and noticed that there is a booklet that you came download "Pre-natal testing for DS" don't know if this would be of any use, but just in case.
Not very good at links so;
www.downs-syndrome.org.uk
Click on the header for information, then literature.

OK, have come back to post link to thread I mentioned...sorry had to dash off earlier to do school run.
Actually it's not the one McKenzie started, tho that's good too.

It's this one: long thread about amnio

this one is very interesting as well (tho of course some of the same people say the same things about their experience)

another good thread

Oh hey, I am the link-meister now!!

Poor her, almost identical to my dilemma in May (odds after nuchal adjusted to 1:44 from 1:128). I chose to wait for an anomoly scan and I am glad I did. The miscarriage risk just wasnt one I was prepared to take after losing my 2 previous babies to miscarriage. I still wont know anything for sure until this baby comes but I am sure all is going to be ok. I hope your freind finds similar peace in her pregnancy and can start to enjoy it again.

Odds-wise your friend has an excellent chance of having a healthy baby. I read somewhere that more babies are lost through amnio than are diagnosed with chromosonal abnormalities.

Hi Bozzy, just seen this, amazing how many times this subject comes up tbh.

Anyway, hope your friend is okay. I've got a friend going through the same thing, she has 1 in 25 chance and she's 37yrs old.

I'm one of the mums on MN whose little girl has DS. Like all the other mums whose child has DS I am VERY happy to talk with you and your friend, either here, by personal email or either of you can call me at home, just ask.

Although if you do be prepared for a really gushy mum, full of how great her little girl is!!!!!!!!!!!!!!

Seriously though, she is great! She's 3 at Xmas, doing really well and bringing HUGE amounts of joy into everyones lives. I know DS seems scary and everyone feels differently about these things but it really isn't so bad you know.

Lottie makes us laugh, without fail, every day, and I really mean that, she is SO funny and such great company. The little things that she accomplishes bring cause for great celebrations and at teh end of the day she'll grow up into a wonderful woman with a wonderful happy life and touch the hearts of all those she meets, I know she will. The world is a richer place with her in it.

I just wanted to share that with you to reassure you, and to pass onto your friend if and when you feel the need.

If there is Aanythig I can do, ANYTHING, just say. If you want to talk, or your friend does, or either of yu want to meet me and Lottie, then I'm here, we're both here.

Lots of love to you and to your friend.
TC x