* Author Topic: High risk of down syndrome and poor responder first pregnancy. Help please!  (Read 5820 times)

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Offline handy1

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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

Offline Fluffs

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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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Offline da1sy

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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

Offline Essex Girl

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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

Offline Astral

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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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Offline nicki70

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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

Offline Hippogriff

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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.

Offline Essex Girl

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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

Offline handy1

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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

Offline handy1

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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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