Undiagnosed Down's Syndrome

[Caezzybe]

Hi everyone,

I thought I would share my experience with you in the hope that it might help someone, somewhere.

I'm 41 and had a fairly uneventful pregnancy. Apart from diet controlled gestational diabetes and a low lying placenta which resolved itself, I had a lovely pregnancy with no morning sickness, no swollen ankles, very few stretch marks, no problems sleeping and the ability to do up my own shoes the day before I gave birth.

I had a natural labour and delivery that was really good, I didn't even notice the latent stage and the active stage lasted 8 hours. I arrived at the hospital fully dilated and gave birth half an hour later, having used only a TENS machine and paracetemol for pain relief.

My baby son was delivered straight to me and my husband and I were filled with joy. The next day, I had a look through my notes and saw a few odd looking things, "almond shaped eyes", "large gap between toes". How sweet, I thought, they have put down Logan's identifying features on his notes, he has his Daddy's eyes and his Mummy's toes. I had no idea that these were actually features of Down's.

The paediatrician came round and said something about low muscle tone and said she wanted to say something but wouldn't speak to me until my husband arrived. She later told us she suspected Logan had Down's syndrome and blood tests were taken to be sent off to Wessex for analysis.

Less than a week later, we were devastated to find out that Logan does indeed have Down's syndrome. My antenatal combined screening came back with a risk of 1 in 560, which for my age was fantastic (or so we thought) and to find out after he was born was not something I would wish on anybody. Amnio was not mentioned even once throughout my pregancy. However, if I had known earlier we would not have terminated but it would have helped us to come to terms with things earlier rather than during a time when emotions are all over the place anyway. I also heard about one other person this year who delivered in the same hospital as me who had the same experience so it isn't just me. I guess I'm just posting this to let others know that the screening tests are not definitive and that this sort of thing does happen.

 

[Vix_2009]

I had heard of a lady in a similar situation, my sister has a neighbour whom it happened to. I can understand how if offered an amnio you could of come to terms with this sooner and prepared for Logan's arrival.

The screening tests, aren't a definitive answer, and if you are low risk your not offered an amnio.
where as the amnio is 99% accurate I beleive?

I had a high NT measurement of 9.5mm and was in utter shock when the midwife at the hospital said things did not look good, and my own midwife told me I should expect the worse, the consultant said once I went to see him that my baby didn't look to have down's syndrome but turners which apparently is rarer than downs, the way he could tell was the way the fluid was at the back of the neck and down the spine, I was offered an amnio by the consultant the same day,which i had, as me and OH had already decided, our tests results came back negative. At that time of being 14wks the consultant told me that I would most likely miscarry due to the amount of fluid...

I'm now near 30wks and having regualar scans on babys growth and the babies heart (once they do the amnio and it is negative they apparently then check for problems with the heart as the NT measurement can also be a marker for heart defects etc)

I think that what I'm trying to say is that there are chances of a healthy baby when you have such a bad prognosis, and there is always that chance that you thought you were having a healthy baby then turns out to be a "situation" once the baby is born.

 

[Szaffi]

Thank you for posting this story! I have no idea what you must be going through, but congratulations on your new baby and hope that he will be healthy and free of the problems often associated with Downs. Although I guess there is a good chance for that, if nothing irregular was picked up on the ultrasounds. I am surprised though that they didn't offer you amnio - here they do offer it to anyone above 35 regardless of screen test results.

I can attest to the inaccuracy of the screening tests though (from the other side of the story) and often wondered if it is worths at all having them.

 

[lottie77]

Hi thanks for posting your story and congtaulations on the birth of your baby boy , as you say these tests seem to be very inaccurate ive saw many posts about women being high risk and all being fine but none who were like yoursel low risk and baby had downs syndrome so it's great you have shared your story

I am only 33yrs old and been given a 1 in 28 chance of my baby girl having downs syndrome after the bloods had beeen done I refused the amnio because I will love my baby regardles, I actually wish I had never bothered with the test at all, I never done it with previous 2 pregnancies don't know why I did it this time

 

[anna matronic]

Thanks for posting the story, congratulations on the birth of Logan (lovely name) I do know a few couples with children who have downs and I know I am not the first to say this, their kids of beautiful and lovely! There are obvious medical problems associated to the condition yes.

What I will say though and this is NO disrespect to anyone. The tests give you a risk only. It is not to do with whether it is accurate or not. There was a risk of 1 in 560, unfortunately Logan was that 1 in 560.

We must remind ourselves that there is always a risk, even with the tests and I agree I sometimes wonder what the point of them actually are. But just because we have a relatively low risk we must remember it does not mean out child will not have downs.

Once again congrats and thanks for sharing I think it is a really important reminder

 

[midori1999]

Congratulations on the birth of your son.

Over 90% of women who find out whilst pregnant that their baby has Downs do go on to terminate, so it stands to reason that in most cases where babies are born with Downs it is undiagnosed until after birth. Almost everyone I know who's baby/child has Downs didn't find out until after their baby was born. Screening tests give so many false negatives and positives.

My youngest son has Downs. He is 6 1/2 now. I had him when I was 27. We found out when he was a day old, his 'feautures' weren't very obvious and one paediatrician had examined him and said we could take him home by then without realising. It was only feeding issues that made us stay in hospital. I would not change my son for the world. He is a wonderful little boy with a fantastic personality and great sense of humour, who just happens to also have Downs Syndrome. Downs is a part of who he is though, and without it he wouldn't be the little boy that my husband (who is not my sons father, I met my now husband when my youngest was 4 months old) and I love so very much. I can honestly say my youngest son has absolutely brought out the best in me.

The upsides for me were my son slept through the night from day 1 and has always been very easy in every way. Even now, he goes to bed at 6/7pm and wakes up at 5/6 the next morning and happily plays in his room until I go to get him up.

 

[gumb69]

congratulations on the birth of baby Logan!
thanks for posting to let us all know xx

 

[Penfelyn]

COngratulations on your beautiful boy! I can't imagine the mixture of emotions you must be feeling right now - but I wanted to wish you all the best and share this link with you. You may have already read it but in case you haven't - its an amazing read. Its a blog written by a woman who was in the same position as you, she only found out once her daughter was born that she had Downs. Its a truly beautiful story.

Remember - your little boy is beautiful and perfect. He just has Down syndrome. It doesn't define him - its a feature of who he is.

https://www.kellehampton.com/2010/01/nella-cordelia-birth-story.html

 

[Szaffi]

https://www.kellehampton.com/2010/01/nella-cordelia-birth-story.html

Wow Amazing story and amazing pictures

 

[Tulip]

Congratulations on the safe arrival of your beautiful son I'm sorry that you have had such a shock but wishing you the happiest of lives together xxx

 

[Caezzybe]

I had heard of a lady in a similar situation, my sister has a neighbour whom it happened to. I can understand how if offered an amnio you could of come to terms with this sooner and prepared for Logan's arrival.

The screening tests, aren't a definitive answer, and if you are low risk your not offered an amnio.
where as the amnio is 99% accurate I beleive?

I had a high NT measurement of 9.5mm and was in utter shock when the midwife at the hospital said things did not look good, and my own midwife told me I should expect the worse, the consultant said once I went to see him that my baby didn't look to have down's syndrome but turners which apparently is rarer than downs, the way he could tell was the way the fluid was at the back of the neck and down the spine, I was offered an amnio by the consultant the same day,which i had, as me and OH had already decided, our tests results came back negative. At that time of being 14wks the consultant told me that I would most likely miscarry due to the amount of fluid...

I'm now near 30wks and having regualar scans on babys growth and the babies heart (once they do the amnio and it is negative they apparently then check for problems with the heart as the NT measurement can also be a marker for heart defects etc)

I think that what I'm trying to say is that there are chances of a healthy baby when you have such a bad prognosis, and there is always that chance that you thought you were having a healthy baby then turns out to be a "situation" once the baby is born.

I found your comments about heart problems and nuchal tranclucency very interesting and did a bit more research after you mentioned it. I found an article, which (in my opinion) might go some way towards possibly explaining why Logan's condition went undiagnosed. I did try to save a link, but it's a PDF download and goes blank when I save it as a favourite. If you Google "the mystery of nuchal translucency", it's the link at the top of the list.

Reading between the lines, it appears that the experts do not know exactly how nuchal translucency is a marker for genetic problems, but one of the theories it mentions is that it shows up the associated heart defects.

Logan's antenatal heart scans appeared normal (and I had a private scan too and lots of extra scans with being gestational diabetic, so I think there was more chance of picking up a problem if one was there). Maybe this is a positive indication that his heart is indeed OK if the nuchal scan missed Down's??? We have a full heart scan booked with a paediatric specialist in October, so we should hopefully find out for sure then.

I still need to dig around for information on the other part of the combined test and how the diagnosis works, but I know I had low probablility results on this as well. Perhaps Logan has Mosaic Down's Syndrome, where only some of the cells are affected. We will know for sure when the full blood results come back in a few weeks. It's also then when we find out whether the trisomy 21 was just a random occurence or whether it's hereditary (my uncle had Down's and I had a miscarriage at 12 weeks when I was 20 - apparently 50% of miscarriages by 12 weeks are because of genetic issues). I've also found out that my second cousin had a daughter with Turner Syndrome as well. If there are hereditary issues, my husband and I will be undergoing genetic testing and counselling as we both want another child and need to know what the risks are of any further genetic issues.

 

[Szaffi]

Reading between the lines, it appears that the experts do not know exactly how nuchal translucency is a marker for genetic problems, but one of the theories it mentions is that it shows up the associated heart defects.

Logan's antenatal heart scans appeared normal (and I had a private scan too and lots of extra scans with being gestational diabetic, so I think there was more chance of picking up a problem if one was there). Maybe this is a positive indication that his heart is indeed OK if the nuchal scan missed Down's??? We have a full heart scan booked with a paediatric specialist in October, so we should hopefully find out for sure then.

I still need to dig around for information on the other part of the combined test and how the diagnosis works, but I know I had low probablility results on this as well.

I hope that the heart scans results will come back clean As I was high risk, when they did the morphology scan at wk 20, they said that they should be able to see if the baby had the heart problem associated with Down's. So, I really think there is a strong chance your LO's heart will be fine.

I also remember reading up on the screening test where they explained that the hormonal patterns of pregnant women are put into a huge database and they try to identify patterns that indicate a risk of Down's syndrome. Then they check your results against this database and give you a probability based on that. If I remember correctly, even if you they have a fairly high cut-off rate for high risk (e.g. 1/300), there is about 15-30% of babies with Down's who will not be in high risk. It's all very confusing. I think however that if you ever had a baby with a genetic abnormality they'll offer you early genetic testing (CVS or amnio) without any screening.

 

[Blah11]

Congratulations on your baby boy It must have been quite a shock but downs syndrome isn't the be all and end all or a devastating disability that some people think it is. Some people with downs syndrome go on to lead relatively normal and independant lifes - hopefully Logan will be one of those X

 

[midori1999]

[I found your comments about heart problems and nuchal tranclucency very interesting and did a bit more research after you mentioned it. I found an article, which (in my opinion) might go some way towards possibly explaining why Logan's condition went undiagnosed. I did try to save a link, but it's a PDF download and goes blank when I save it as a favourite. If you Google "the mystery of nuchal translucency", it's the link at the top of the list.

Reading between the lines, it appears that the experts do not know exactly how nuchal translucency is a marker for genetic problems, but one of the theories it mentions is that it shows up the associated heart defects.

Logan's antenatal heart scans appeared normal (and I had a private scan too and lots of extra scans with being gestational diabetic, so I think there was more chance of picking up a problem if one was there). Maybe this is a positive indication that his heart is indeed OK if the nuchal scan missed Down's??? We have a full heart scan booked with a paediatric specialist in October, so we should hopefully find out for sure then.

I still need to dig around for information on the other part of the combined test and how the diagnosis works, but I know I had low probablility results on this as well. Perhaps Logan has Mosaic Down's Syndrome, where only some of the cells are affected. We will know for sure when the full blood results come back in a few weeks. It's also then when we find out whether the trisomy 21 was just a random occurence or whether it's hereditary (my uncle had Down's and I had a miscarriage at 12 weeks when I was 20 - apparently 50% of miscarriages by 12 weeks are because of genetic issues). I've also found out that my second cousin had a daughter with Turner Syndrome as well. If there are hereditary issues, my husband and I will be undergoing genetic testing and counselling as we both want another child and need to know what the risks are of any further genetic issues.

Just goes to show how they do things differently in different areas. My son had had an echo with a specialist within a few days of birth and we also had blood results back within a few days. Have they listened to Loagn's heart to see if he has a murmur? My son did have congenital heart problems and had open heart surgery at 6 months old. He sailed through it and the surgery is pretty routine now, so try not to worry too much.

Have they confirmed by bloods that Logan has Trisomy 21? If so, I understood that this type of Downs was NOT hereditary, but translocation is. My son has Trisomy 21.

We decided not to have any testing for Downs in our last pregnancy and won't be testing in future either, I wouldn't care one bit if we had another child with Downs.

 

[Caezzybe]

Just goes to show how they do things differently in different areas. My son had had an echo with a specialist within a few days of birth and we also had blood results back within a few days. Have they listened to Loagn's heart to see if he has a murmur? My son did have congenital heart problems and had open heart surgery at 6 months old. He sailed through it and the surgery is pretty routine now, so try not to worry too much.

Have they confirmed by bloods that Logan has Trisomy 21? If so, I understood that this type of Downs was NOT hereditary, but translocation is. My son has Trisomy 21.

We decided not to have any testing for Downs in our last pregnancy and won't be testing in future either, I wouldn't care one bit if we had another child with Downs.

Logan was confirmed as having some form of Down's after having the Trisomy 21 blood test, but as far as I'm aware there are 3 sorts of T21 - "ordinary" Down's, Translocation (4% of which 1% is hereditary) and Mosaic. Hopefully this link to the DSA info on genetics will work for anyone reading this who may be interested:

https://www.downs-syndrome.org.uk/i...Publications/general/DSA_Genetics_Booklet.pdf

We are still waiting for the full blood results back, but got an initial "quick" positive result within a week of Logan's blood being taken. Initial paediatric checks with a stethoscope (several of them) seem to indicate that Logan's heart sounds normal, but a full heart scan will be done when he is around 6 weeks old.

You said you wouldn't have tests for Down's. I definitely want genetic counselling and testing for me and my husband, but only so we can assess the chances of a future Down's pregnancy or other genetic issue. I will accept screening tests to see how they come out, but would not have any invasive testing (amnio/CVS) as the risk of miscarriage would be unacceptable to me. I have no intention of terminating a pregnancy. If a second child had Down's, I would love him or her just as much as I would love any other of my own children. The screening and statistical stuff would be more to prepare for any potentially identifiable health issues (such as a heart problem). Next time, I would not assume that a negative result means everything is OK, but if there is anything to prepare for that DOES show up, then we can be ready.

Both my husband & I are keen to have another child as soon as possible, I'm 41 and not getting any younger. We both think that Logan would really benefit from having a brother or sister and that a younger sibling would find Logan an adorable big brother

 

[midori1999]

Ah, yes, sorry. I am so used to everyone simply referring to 'regular' Downs as trisomy 21 (even medical staff) and translocation and mosaicism as just that.

I already had two children without Downs and as I know my son has trisomy 21, I don't feel I need to do any further investigation. I do know that in subsequent pregnancies myself and my friends who have children with Downs (in different areas) were not offered screening tests at all, just amnios. I also know that both myself and my friends were strongly pressurised by medical staff to have an amnio. I told them to get lost basically. Doctors, considering the profession they are in, seriously lack understanding regarding 'disabled' children and why to some parents it is simply not the end of the world.

 

[Caezzybe]

Doctors, considering the profession they are in, seriously lack understanding regarding 'disabled' children and why to some parents it is simply not the end of the world.

It's interesting you should say that. Today, our health visitor said that my husband & I are coping remarkably well and I said that there's nothing we can do to change Logan's condition so why should we be anything other than positive about the future. She was (quite frankly) amazed by this and said that most parents in our circumstances don't cope that well with coming to terms with things. We both absolutely adore Logan and will treat him the same as any other little boy (as far as is possible).

Something else that randomly popped into my mind this morning was that I need to remind the doctors about the Sunday before I gave birth. I admitted myself to the delivery suite for monitoring after Logan went quiet (probably preparing himself for the birth). I was on a trace for over an hour and a half and (apart from Logan being sleepy for just over 40 minutes) his hear trace was normal, no abnormal patterns were detected. So more indications hopefully that he doesn't have a heart condition

 

[Szaffi]

Wow! Sounds like you two are amazing parents to your little boy! Please keep us updated about the result! I'm so rooting for him to get a clean bill of health!

 

[Vix_2009]

You sound like an amazing couple, Logan is lucky to have such parents! And no doubtly you feel lucky to have Logan

 

[Mummy Smiler]

Hiya Im still newish n just pick up on threads. Congrates for Logan n all the family. Thanks 4 share ur story. My CMW was banging on about the Downs scaning before I even meet her face 2 face. I had a chat with hubby n we both desided we would say no 2 the scanning as there is no history of downs on ether side, I only 33 yrs old n its my first child. We desided that yes there is 1 in ??? Chance but if s/he is born with downs they will still be loved n wanted. I had read about tests not reading right so this made me more aganst the test n the mischage risk of the amontic well NO THANK U. I had a hospital clinic yesterday n MW there was saying about the downs scanning I just yes I know about it but don't want it. I was at collage with a couple of girls with downs n they are now living indepened lifes, then though a kinda independent living sceme I stayed at the were some with more sevre downs but they were making the best of life. So I know there is the spectram affect can just be mid or can be sevre but they are still ppl in tthere own rights: like all babies they are a gift 2 tresure. Xx