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Discussion Starter · #1 ·
Hello

I am 13 weeks pregnant with my first baby at 42. I was a very poor responder for stimulation  and on my second ivf cycle I responded by only one egg and got pregnant. My AMH was undetectable.
Anyway , my 12 week scan showed normal nuchal translucency and present nasal bones. There one  is one abnormal blood marker (PPAP A) and my age put me at risk of 1:10 for down syndrome.

My obstetrician and my DH are not 100% keen on amniocentesis because of the risk of miscarriage and this may be my last chance to have a baby of my own.

It is a very difficult time for me and I feel lost and tearful. I am going to have a scan at 16 weeks and then decide.

Anyone here has been through a similar situation? I need help and support.

Handy
 

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Hi Handy1

Firstly I wanted to send you some big ^hugme^ ^hugme^ at this stressful time ^hugme^ and secondly I wanted to direct you to this website http://www.arc-uk.org/ which should help you go through all the options and perhaps explain things in more detail ^hugme^ Sadly I have no experience in this area so am not able to offer any practical advice but will be thinking of you.

Fluffs xxx

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Hi Handy
I went thru this with my son - I had a 1:18 risk which was only on the blood test as the nuchal and nasal bones were ok. I had the amnio at 16 weeks and my son was 'normal'. The wait from the test to the amnio was awful tho and you have my sincere sympathy for what you are going through.
I found out later from googling that vegetarians and vegans get a high false positive rate from these blood tests.. and I am a veggie. Not sure if that information is of any use to you though.
I was really scared of the amnio but we decided that we had to know and the lady who did it was very highly recommended. I guess if you feel you will keep the baby whatever then having the amnio is perhaps less of a priority.
I hope this helps a bit.
A x
 

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Hi Handy

I am the mother of a lively 3 year old DD with Downs. This is our story:
http://www.fertilityfriends.co.uk/forum/index.php?topic=221876.0

Like you, I was a poor responder and only got PG after DE, on what was to be our last TX before giving up, so I can remember that 'all or nothing' feeling. We chose not to do the amnio because of the miscarriage risk, but we didn't do the earlier testing either.

In your case, the normal nuchal measurement and nasal bone are both good signs, but the screening is only about 70% accurate because of the huge variation in babies with Downs. You can have babies with Downs with normal scores for both of those, though lack of nasal bone and higher nuchal measurements are more common. One of the mums I know had a screening risk of 1:800 but her child had Downs, and a lady on here recently had a 1:3 risk and her amnio result showed it was clear of Downs. The screening is only a guide.

At the 16 week scan they will look for more 'soft markers' ie symptoms that babies with Downs commonly have, such as a short thigh bone, 'bright' bowel and heart defects. The more of these that they find, the more likely it is that the baby does have Downs, but the only way to know for certain is by CVS/amnio.

It's a personal decision as to whether to go ahead with the amnio or not. As I understand it, the later it is done, the less risky it is, but if you did want to terminate the pregnancy if you got a positive, then it is better to do it sooner rather than later.

Wishing you all the best with whatever you decide to do

EG x
 

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Hi Handy,
I was the lady that had the 1 in 3 risk of Downs. It was a horrible time and I'm not surprised you are tearful, I was too. Have you phoned ARC? Their phone counsellors are amazing.

I think its positive you had nasal bones and normal nuchal. We had increased nuchal (4mm) and with my blood result (1 in 46) and age (39) gave us the 1 in 3. We also had nasal bones clearly seen, which IS positive, although a small percentage of Downs babies do have nasal bones.

Are you near London? If I were, I'd have gone to Dr Nikolaids Fetal Medicine Centre in Harley Street for a more thorough private screening scan than NHS: http://www.fetalmedicine.com/fmc/ . Its not mega expensive considering they are world leaders and he was the guy that invented the nuchal screening test! I phoned them anyway for advice and they said that they would've given me a lower risk than 1 in 3 because of the presence of nasal bones. They check other things too (heart and bowel) and factor in. It may help you decide if you get a more thorough scan?

As our risk was so high AND we had increased nuchal, we went for a CVS. But, we checked what our Cons success rate was with CVS (rather than the generic quoted 1-2%) and discovered that she did about 150 procedures a year and hadnt lost a baby in 2 years.. so that was reassuring. If you do decide to go ahead, pin them down on numbers, or find a Con with ALOT of experience of amnios. ARC said this is crucial for lower m/c risk. I hope that helps.

Astral xx

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Hi Handy,
Really sorry you're having to go through this worry. I had a pre natal dx of Downs Syndrome following an amnio after receiving a risk of 1 in 2, based on bloods, nuchal of 3.7mm although our baby did have a nasal bone, so you never know!  It is such a difficult decision to have further testing & although both DH & I knew we would keep baby whatever I just needed to know for sure. So we elected to do the amnio at 16wks, & found out later that we're expecting a baby boy who does have Downs.  I feel that knowledge is power so knowing about his DS has meant I've already met some local families & also have already got a lot of support in place & know that the future is going to be just rosy!
Some people elect to wait till 30wks to do an amnio to find out for sure as if the baby was to come then as a result of the procedure they would survive.
It's such a difficult decision to make but please bear in mind it's a risk factor you've been given & the odds are majorily in you favour that all is fine.
Nicki xx
 

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Huge hugs

I went through this last year - sadly it wasn't to be a good outcome for me.  Thankfully a lot of people here have happier stories.

With the normal nuchal translucency, then it sounds hopeful (mine was very bad - 5.6 - major heart defects as well as Downs and other abnormalities incompatible with life)).  A one in ten chance for Downs, is a nine in ten chance that this will be a perfectly normal, healthy baby.  I would also say to you that phoning ARC is a really good idea - their counsellors are fantastic and were a lifeline for me.

Losiing my much wanted baby taught me one thing - that Downs is not something to be feared.  She had it.  She had other reasons why she couldn't live and why a medical termination became my only option.  There is a little girl with Downs in my son's class at primary school - she is the prettiest, sweetest little girl, with amazing blue eyes and a heartmelting smile.  I can hardly bear to look at her, because I see what my daughter might have been if she could have lived.  She's a year round Christmas present to everyone who knows her.

If you need to talk, we're always here.  Lots of love, and good luck.
 

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Hippogriff  ^hugme^  I'm so sorry to read about what you went through with your DD. I do hope you will have happier news soon.

I totally agree that Downs is nothing to be scared of.  The children I know are all different, and have different strengths and weaknesses, but they do all seem to be lovely and affectionate children.

EG x
 

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Discussion Starter · #9 ·
Hello lovely FF

Thank you very much for all your replys. It is amazing how things can get better once you hear other peoples real life experience. I am really grateful to all of you for getting back to me.

I went to a private nearby clinic that did send my blood to the Fetomaternal foundation in London Harley street  and I had another scan with the consultant yesterday. The baby looks 100% fine at this stage with nasal bone present and nuchal of 1.3mm, all the major organs ( brain, heart, bladder, stomach, limbs fingers and spine) are all fine. The babies crown rump was smaller for gestational age but the consultant said it's only a difference of millimetres  and we shouldn't worry. He was a but disappointed by the blood markers which has put our risk as 1:33.
Well, this a bit reassuring as it is better than our NHS risk of 1:10.

Me and my DH discussed and we are 100% sure that we will never go for termination of this pregnancy unless there are really problems incompatible with life. So at the moment we will wait for the 16 week scan to check the babies development is going ok. I don't think we will have an amniocentesis but we will follow the baby very well to make sure s/he is developing ok.

I just have to go for a minute and I will be back.

Handy
 

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Discussion Starter · #10 ·
Hello . I am back again.

Thank you : yaya, Essex girl, hippogriff, Nicki70, Astral, Daisy and Fluffs.

You are all amazing and also the thread about learning difficulties iz also amazing.

All I know now is that even if Diwns syndrome is ruled out I am not going to protect my baby 100% from any other problems that could happen. Statistics can tell me my risk of DS but doesn't rule out autism or other development abnormalities which can not be predicted antenatally.

I will love my baby anyway whether Downs syndrome or any other problems. Also there is a higher possibility that everything will be normal. The main thing I am sure about is that I will never forgive myself if a miscarriage has happened after an amnio or had a termination.

The other thing is that I was given only 1% chance of having my own baby after my failed first Ivf and was advised not to waste my time and go for donor egg. But I was stubborn and went to the lister hospital and it did happen. So I already fell very blessed and I am ready to accept whatever is destined to be. I already love the baby so much and can't believe that I have reached this stage.

Handy
 

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Handy - Mine's a Lister baby too! They really are fantastic there aren't they.
It's brilliant that u & DH are of the same opinion & so true that you don't know what the future of any 'healthy' child can be.

Bear in mind that the background risk for any lady having a child with downs is around 1 in 100 over the age of 40 (my con told me it's closer to 1 in 60) that your risk isn't actually that bad!

We also have a frozen embryo waiting for us to use, & been told we're no more at risk of that embie having DS than normal so we'll probably give that one a go in the future too.

Essex Girl - I've been meaning to pm you as our bubs is due to put in an appearance in around 12 weeks! Did Ellie arrive early? I have been told by other Mums that the placenta matures earlier in DS pregnancies so the average is 3 - 5 wks early??!!
Better get  a move on with the nursery!

Hippo - That was a beautiful thing you wrote refering to the little girl with Downs in your sons class as a permanent Christmas present. So sorry. xx
 

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Handy - I'm so glad you got a 2nd opinion then and they adjusted your risk to 1 in 33 (yes, which really isnt that bad against the quoted background risk!). Sounds like you have come to a decision.

We also said that we wouldnt have done any invasive testing if the risk had been about 1 in 33 or lower than, because we'd rather take our chances than risk m/c. Good luck
Astral x
 

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Handy, it must be a relief now that you've made a decision to not go ahead with invasive testing. It's really good news that the new consultant gave you a revised risk of 1:33. That works out at a 97% chance that everything will be fine, so you have every reason to be positive. The fact that all the organs look normal on ultrasound and the nasal bone is present is very encouraging.

Best of luck!

Yaya xx
 

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That's good news about the new odds, and good news that all looks well with your LO.  If he/she was the 1% chance of success at own eggs IVF, he/she is a little fighter!

I shall follow your progress with interest, and keep my fingers crossed for you that everything is OK for the rest of the PG and beyond. 

Thanks also for your comments about the learning disabilities/special needs thread.  I'm glad you found it helpful. (says she doing her 'proud mod' bit...)

Nicki - I was wondering how you were getting on.  I can't help with the early arrival question as I had a planned c/s which was brought forward and done at 37 weeks for reasons unconnected with the baby having Downs (which nobody knew at that point anyway...).  I don't think she was ready to come out then, and she needed a few days in SCBU to help her get started.

Ruth x
 

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Discussion Starter · #15 ·
Good morning

Nicki70  ... The Lister clinic are really very optimistic and they said my chances were 10% rather than 1% and they did really tailor the tx protocol to go with my body hormones. Once started it did go very smoothly.

Astral.... Thanks for your replies and support.

Yaya.... Thank you very much fir your pms and replies and hope everything goes well for you.

Essex girl .... you are really an inspiration and  I will need your support during my pregnancy and afterwards if my risk turned to be a reality.

I know I have made my decision but in reality the worries are still in my mind . I am going to book scans with the Fetomaternal centre for in depth cardiac scan for the baby at 20 weeks.

Handy

 

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Hi

I had low papp-a with DD2 0.3 MOM, NT and other blood markers were fine, nasal bone was present. I was 41 at delivery and this put my risk factor at 1:79. I had a miscarriage at 12 weeks last year and bleeding in the early stages of this pregnancy so decided against any further diagnostic tests following the 20 week scan which showed no soft markers. Bubs was born absolutely fine and is now 4 months old. Had there been soft markers at the 20 week scan I think I would have gone for the amnio but its a very personal decision and the only thing that kept going through my mind was having the amnio, getting the all clear and then losing a healthy baby. I wish you all the luck in the world and hope that you can begin to relax and enjoy your pregnancy soon.

Hello

I am 13 weeks pregnant with my first baby at 42. I was a very poor responder for stimulation and on my second ivf cycle I responded by only one egg and got pregnant. My AMH was undetectable.
Anyway , my 12 week scan showed normal nuchal translucency and present nasal bones. There one is one abnormal blood marker (PPAP A) and my age put me at risk of 1:10 for down syndrome.

My obstetrician and my DH are not 100% keen on amniocentesis because of the risk of miscarriage and this may be my last chance to have a baby of my own.

It is a very difficult time for me and I feel lost and tearful. I am going to have a scan at 16 weeks and then decide.

Anyone here has been through a similar situation? I need help and support.

Handy
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