risk of downs syndrome 1 in 5, any experience or advice would be appreciated

[fantus]

Hello all,
I am not sure if I am posting this in the right place and if not I apologise.

I am writing this on behalf of my niece who is currently 13 weeks pregant. She was called into the hospital yesterday to receive the results of her blood tests and 12 week scan which was completed a last week.

She has been told that there is a 1 in 5 chance her baby will have downs syndrome and tthat the nuchal fold measurement was 3.4mm.

She is only young, will be 21 in January, and is pretty shell shocked at the moment. she has to wait 2 weeks for the amnio then another 4 or 5 days for the results. She has said she will be keeping the baby no matter what. I am not sure what I am asking to be honest, just anybody else's experiences or advice. I have worked with young adults with downs so have some info I can give her but I have no experience of babies or the testing she can expect. Also re the nuchal measurement - is this particularly high? I know there are other markers they can look for and she said that no other ones were mentioned.

Bump - anyone?

Hiya

there are a few mums here who have been through this, try searching for posts from eidsvold and somebody else will I am sure be along later.

Also, the downs syndrome association are excellent and very worth getting in touch with.

I wish you nieve happiness; we had a high risk for ds3 although he enver had it- he hjad something completely unrelated instead! And is adorable and makes us smile.

Thanks Santa,

I had forgotton about the downs syndrome association and will pass their details on to her.

Would you happen to know what kind of support if any she may get? I know at this point the information may not be needed but she wants to know as much as possible to try and prepare mentally IYSWIM?

Hi, I had my little boy 10 months ago. We did not know before he was born that he had Downs. He is the most lovely boy, rarely cries and is doing really well. He sees a Physio about every six weeks, and we will see an OT next week too. We have seen the paed three or four times since he was born. All if the midwives were lovely when he was born, I sobbed all over one the first morning. Most people have been fab, the HV wasn't great but we just have not bothered with her.

I think most people at least have heard of Downs which means it is maybe more 'accepted'. There are other mums on here with older children who will be able to give you more advice. I think the DSA has a download leaflet on coping with a pre-natal diagnosis.

Thanks Eliza, I'm glad your DS is doing so well. Can I ask what he see's the OT and physio for? Is this typical or dependant on each individual child?

Also can anyone advise if there could be any problems with breastfeeding - just something else she asked about when she spoke to me, thanks

He sees the Physio for general exercises to help with his crawling and sitting up as he has low muscle tone (floppy). We are only seeing the OT for the first time next week. I think she concentrates more in fine motor skills. I think this is standard for all children with DS.

I didn't bf but I have a friend with a son (also with DS) and she has bf him for a year. She was determined to do it and said a midwife in the hospital was really supportive and helped her stick at it.

When we first saw the paed I asked her was the extent of his learning difficulty already "set" and she said no, that along with all other children the more you input the better the Childs development.

They also do a blood test which is combined with the mothers age to make a formula which gives the risk ratio. The only sure way at the moment I think is the amnio at this stage in the pregnancy. Again the Down's society would help with information and support.

OP I just wanted to tell my experience. I had a 1 in 4 risk with my second child. I wanted to keep my baby despite strong opposition from family. That was the hardest part to deal with because at times like this you need family to 100% support your decision whatever it is. In my case an amnio showed my baby didn't have Downs which shows that there's always a chink of hope.

Thanks again Eliza, that is very helpful.

She is due to have the amnio in 2 weeks time. It is the waiting now that she is finding very difficult to cope with.

Thanks kissingfrogs for your story. Do you mind if I ask your age? I think the fact that she is so young and has been given such a high risk factor is kind of convincing her there is definately some sort of problem. She is firm in her decision to keep the baby and afaik everyone is behind her. Certainly me and DH will give her whatever support we can. The baby is already part of the family as far as we are concerned.

Hi fantus, just thought I would let you know my sister in law was 22 when she had her daughter who is DS. I was 30 when I had my son, neither of us knew before they were born, though I did have the blood test and came back low risk....with DS being on my notes as something to look for, nothing such as the nuchal fold was picked up in the scan!! Both our children are worlds apart in development, problems etc.
I also know a girl who had her DS at 15yo, another couple of friends who were 18yo and 19yo, they both cope pretty well and have good family support. HTH x

Just read a few stats for you. 9 out of 10 babies with a measurement of 2.5 - 3.5 will be normal.

here

There are other statistics and combined with mums young age, hopefully she will be a bit more reassured in the wait for the amnio.

A lot of maternity units did not do the nuchal scan devie as a routine prodedure until recently. My DD had to pay for hers privately 2 years ago. Now our LA does them for free, but some areas still do not. Maybe they just went on the blood test with you?

HI USo, I kbow it's been nearly 10 year lol, that's good to know. It's just I have a background of complicated births etc so it was on the front page of my notes to look for downs as well as twins. His heart condition was also structural and still nothing picked up on a scan like the docs at the time said it should of.

The scan is only as good as the operator and even when you get a good operator sometimes they are overruled. The radiographer said my DDs baby was small at her 30 week scan, but was overruled as my DD is only 5'1". He was predicted 6-7 lbs. Well he was born at 37 +3 at 4.5 lbs following a placental abruption. Perhaps if they had listened to the radiographer they would have picked up on the placental insufficiency and things would have turned out better for DGS. DD now also has background of difficult births having also had a mc. Heart conditions should definitely be picked up at scan!

The blood tests frankly were quite rubbish as the maternal age (if very young) offset the high blood readings to such an extent that they were in effect disregarded. Hence the vast majority of DS babies were born to young mums.

Thank you every one. This is all very helpful. Can I ask another question? DN said she was told there was a high risk of heart defects. She thought this was still the case even if baby doesn't have downs although she was unsure how they would know this. I didn't think this could be picked up on a scan so early or the blood tests would show this? Does anyone know any different or do you think she is just confused and that they meant if baby has downs the chances of heart defects are increased??

USo I am sure you emant nothing by it, but here we tend to skip normal and use NT (neurotypial).

Breastfeeding a baby with DS can sometimes be a bit more challenging (here but becuase you have the heads up your niece hs the chance to get support in place early which is hugely useful. the kellynom site is a great palce to start for info, and then la leche league or one of the other big breastfeeding organisations (eg assocaition of breastfeeding mothers, BFN, NCT) should send soemone out to get to know the mum that cn help enormously.

I don't think they can tell until the 20 week scan if there are heart problems, so she may just be confused and have been told it is more likely (although my son's heart is 100% fine).

Sorry about normal - I meant that the scan test would be normal, not the baby! Have got DGS (gorgeous boy) with CP so am usually very careful with my NTs!

Not sure also regarding heart defects and how early they show. Often though when there is a heart problem they look for a link with DS. Eliza is probably right on this as the 20 week scan is the anomaly scan, where they are looking for problems such as heart, kidneys. DN needs to ask for more information if they think there are problems with the organs.

fantus I was not a young mum at the time (late 30s). You could say my age presented a greater risk, yet there's only 15 months age gap between my 1st and 2nd child and my tests for the 1st baby showed a low risk of 1:1100. Quite a different story for the second. It seems it can be a matter of chance whatever your age.
Yes - the waiting for the amnio results. A terrible time.
One thing I'll mention: my doctor who did all my prenatal care of checks, scans, amnio (in france) did reassure me that my baby was unlikely to have Downs. He said an underdeveloped nasal bone can be a predictor of Downs and was confident in his prediction due to baby's prominent nasal bone as seen on a scan.

Hi. Hope I can help. Our third son was born eight months ago and has Down's. I was 33 and didn't know when I was pregnant.

I have heard of problems breastfeeding but I managed to breastfeed him successfully and am still doing so now.

No heart problems showed up at 20 week scan. He does have a small hole in his heart however, but it is not one typical of Down's. It may close on its own over time. They are monitoring with scans once a year.

We also benefit from a scheme called Portage. A really nice lady visits and gives us little exercises/things to do, which will help him to reach his potential.

Although it was a shock when he was born, he is such a lovely, happy and placid little boy. We feel so happy to have him in our family.

Thanks again everyone, your posts are very helpful and show whatever the results of the amnio everything can and will be fine.

I will update once she gets the results and make sure she knows about this site incase she needs any further help or support.

Thanks again x

we knew basically before dd1 was born that she would have down syndrome. At present she is a gorgeous healthy active amazing 8yo little - actually big girl.

Life is great for her - she does dancing, swimming and sings in the school choir.

Fantus - I was not able to breast feed dd1 - she ahd a heart defect and it was to exhausting for her to even try - however having said that I know lots of babies with ds who are and were breastfed. There is a fabulous booklet available from the australian breastfeeding association - which I am sure you can order online and they send anywhere in the world.

Dd1 sees an OT and a SALT and has done from as early as we can remember. The salt worked originally with communication and speech and now has progressed to more language work. The OT works with toileting and fine motor work and the physio - rather spotty for us - due to lack of availability worked with gross motor skills. We know that this early intervention has helped dd1 be the very capable young lady she is today.

Her speech etc blossomed when she started attending mainstream kindergarten and went on to mainstream school.

An increased nuchal fold measurement can indicate a heart defect - and not be linked to down syndrome - in fact a number of conditions can be linked to increased nuchal fold measurements but generally medical professionals seem to fixate on down syndrome.

As I said earlier in my post - dd1 was born with a heart defect and had two open heart surgeries at 8 weeks old and since then has never looked back. In fact we were recently told that her heart is basically like everyone else's heart and that the surgery that was originally indicated as a very real possibility in her teen years is looking incredibly unlikely. She is very active and able to take part in all sorts of sports and activities. It was pretty hard getting her to the point of surgery and recovery but she has gone from strength to strength.

actually dd1's heart defect was detected at her 20 week scan and we were referred to a fetal cardiologist who gave us the accurate diagnosis of her heart defect. So heart defects can be detected at the 20 week scan depending on the type and the sonographer. Our local hospital picked up that the heart did not look quite right and then we went to London to see the fetal cardiologist who told us what was the issue. Very serious heart defect but common and easily repaired.

from memory 2/3 of children with down syndrome also have a heart defect and if that turns out to be the case with your niece - you can refer her to the Downs heart group - fabulous wonderful supportive group. Able to help with anything from just a phone chat to information and so on.

Thank you edisvold. The info re the increased nuchal fold is possibly why she thinks the risk of heart defects is possible regardless of a diangosis of DS.

I am glad your DD is thriving - proof that a negative result need not be a negative at all.