I am 38 and currently 13 weeks pregnant and yesterday received a phone call telling me that I was high risk for down's following my blood results. They say that I'm 1:75 chance and obviously we know all the options available to us. The nuchal measurement was 2.2mm (which I thought was acceptable for my number of weeks) and that the hcg was high but the plasma test was normal. Now we have the dilemma, amnio or not? I had a miscarriage at 10wks 2 yrs ago and with this pregnancy a haemorrhage at 12 weeks so the thought of 'what if' is quite stressful. Any advice from parents of children with downs or anyone in a similar situation?
High risk for Downs
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Junebug_CJ
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Hi there, sorry about the increased worry...
What are the risks of miscarriage due to amnio that your centre has quoted you? The average is 1 in 400. How I counsel patients in this situation to help them make a decision is 1) there is a higher risk of Down than of a MC given the blood results (I agree with NT of 2.2 is within normal but this can happen in DS) and 2) what would be worse to you? Losing an unaffected baby due to amnio or giving birth to a baby with DS and it's accompanying medical and developmental issues?
This decision is so personal, it's impossible for any of us to state what is the right or wrong one
I hope this has helped a bit 
What are the risks of miscarriage due to amnio that your centre has quoted you? The average is 1 in 400. How I counsel patients in this situation to help them make a decision is 1) there is a higher risk of Down than of a MC given the blood results (I agree with NT of 2.2 is within normal but this can happen in DS) and 2) what would be worse to you? Losing an unaffected baby due to amnio or giving birth to a baby with DS and it's accompanying medical and developmental issues?
This decision is so personal, it's impossible for any of us to state what is the right or wrong one
I hope this has helped a bit 
SabrinaKat
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Before an amnio, can you do another scan? I'm 43 and we did the nt/blood test and my age-wise 1/27, but after scan, tests 1/175, so we decided not to do cvs and wait for 16 wk scan before deciding on amnio (I'm 12 wk+2). Also, waiting those extra 3 wks will hopefully help you feel more confident about recovery from haemorrhage, etc.
Junebug_CJ
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I'm not aware of scans which can further decrease the risk after the first tri tests and I work in this field...
Hi love, sorry to hear you are high risk.
I was 31 with a high bmi and was 1:65 with Fran. DH wanted me to have the amnio at first but I told him it didn't matter to me - I would love this child no matter what. We sat down and worked out that the risk of miscarrying after having the amnio compared to the risk of our baby having downs was too great for us and we decided against it.
The way I looked at it wasn't a 1:65 chance she would have it, but a 64:65 chance she wouldn't. And she was born absolutely perfect.
What you need to think about is how you would feel having a baby with down's. If you would love your baby anyway and would carry on with the pregnancy - is it worth the risk?
If you feel that you really need to know either way then have it done.
Good luck love - please feel free to pm me if you need a chat xxx
I was 31 with a high bmi and was 1:65 with Fran. DH wanted me to have the amnio at first but I told him it didn't matter to me - I would love this child no matter what. We sat down and worked out that the risk of miscarrying after having the amnio compared to the risk of our baby having downs was too great for us and we decided against it.
The way I looked at it wasn't a 1:65 chance she would have it, but a 64:65 chance she wouldn't. And she was born absolutely perfect.
What you need to think about is how you would feel having a baby with down's. If you would love your baby anyway and would carry on with the pregnancy - is it worth the risk?
If you feel that you really need to know either way then have it done.
Good luck love - please feel free to pm me if you need a chat xxx
Junebug_CJ
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Great response bigbetty
I had a 1 in 10 risk of trisomy 18 (much worse than DS in general) the first pregnancy and we did do CVS, everything turned out fine. Not only do I work in the field but I've also experienced all of the stress and concern firsthand...
I had a 1 in 10 risk of trisomy 18 (much worse than DS in general) the first pregnancy and we did do CVS, everything turned out fine. Not only do I work in the field but I've also experienced all of the stress and concern firsthand...
vintage67
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I think the scan she is talking about is the growth/development scan done at 20 weeks to check for soft markers.
Of course, nothing is as conclusive as an amnio. But for us, we also decided that it was too great of a risk. My age risk is 1:24 or 1:30, some charts vary. My blood based risks were 1:160 I think, which is lower than when I had my son 7 years ago. With him, we had 1:23.
The 20 week scan to me was very reassuring; the baby has a nasal bone, 3 bones in the pinky, 4 formed chambers in the heart, etc., again, I realize these are not 100% conclusive like an amnio would be.
However, after suffering 3 miscarriages in 2 years, we did not want to take that risk. I'm 44 years old and this is my last chance.
Of course, nothing is as conclusive as an amnio. But for us, we also decided that it was too great of a risk. My age risk is 1:24 or 1:30, some charts vary. My blood based risks were 1:160 I think, which is lower than when I had my son 7 years ago. With him, we had 1:23.
The 20 week scan to me was very reassuring; the baby has a nasal bone, 3 bones in the pinky, 4 formed chambers in the heart, etc., again, I realize these are not 100% conclusive like an amnio would be.
However, after suffering 3 miscarriages in 2 years, we did not want to take that risk. I'm 44 years old and this is my last chance.
herbie
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i also got a phone call last week with high risk results 1:100 chance
we were booked in for the amnio last wed but after a long discussion with the consultant we decided to wait to see if anything appears on the 20 week scan
i had a bleed in my uterus so my risk of m/c was alot higher and we didnt want to risk losing a healthy baby
the further along in your pregnancy you are the lower the risk of m/c but like our consultant said it also makes the decision more difficult
we asked alot of people for advice but the decision has to be yours and your ohs
i know alot of ladies their blood tests have come back low risk 1:7500 and still had a downs baby so you just dont know
good luck with wateva you decide hun
we were booked in for the amnio last wed but after a long discussion with the consultant we decided to wait to see if anything appears on the 20 week scan
i had a bleed in my uterus so my risk of m/c was alot higher and we didnt want to risk losing a healthy baby
the further along in your pregnancy you are the lower the risk of m/c but like our consultant said it also makes the decision more difficult
we asked alot of people for advice but the decision has to be yours and your ohs
i know alot of ladies their blood tests have come back low risk 1:7500 and still had a downs baby so you just dont know
good luck with wateva you decide hun
Emx
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I was given a 1-50 risk with my DD when I was 37.. She also had a fairly normal nuchal measurement and it was my bloods that increased my risk. We decided not to have an amniotic or CVS and waited to have a very thorough 20 week scan, which we found enormously reassuring as it showed no soft markers for DS. She was born without DS or any other chromosomal abnormalities. I didn't have any testing for this pregnancy as I felt the results of the nuchal last time ruined my pregnancy experience somewhat!
Thank you all for your advice its greatly appreciated. We are having a meeting with the consultant tomorrow and hopefully he will answer fully our questions. Our hospital quotes 1% for CVS and 0.5-1% for amnio as risks but having haemorrhaged and miscarried already its still a daunting thought, but would give a definate answer, but should the result be positive that would then pose a dilemma that I'm not prepared to consider at the moment. I hadn't considered waiting til the 20wk scan for soft markers, are these visible at the 12 wk scan as we did get a good clear photo?
Junebug_CJ
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No, organs haven't developed enough by 12 weeks: at that time, the U/S is only done for NT measurement. Anatomy scans need to be done after organ formation has occurred, minimum 18 weeks... And not all babies with chromosomal abnormalities will have soft markers, and the reverse is also true: not all babies with soft markers will have chromosomal abnormalities. Makes it harder to make a decision I know but only amnios/CVS can give a definitive answer.
Caezzybe
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I was considered high risk in my current pregnancy and they did check for (and found) a nasal bone at 12 weeks on the NT scan.
The reason I am potentially high risk is because my son Logan (1 next week) has Down Syndrome and his condition went undetected. His nuchal fold measurement was 1.9mm and bloods were OK, the combined risk was 1 in 560 and his condition came as a terrible shock to us after he was born. I was 41 at the time. We very quickly did all the reading we could to get as much information on his condition as possible and have tried our best to give Logan the best in life that we can give him. We absolutely adore him and couldn't wish for a more loving and happy baby.
However, I had also had a miscarriage at 12 weeks in my first pregnancy (22 years ago) and had made up my mind before I went to Logan's booking appointment with the midwife that even if the 12 week scan came back as high risk I would refuse invasive testing as there is no way I would have risked a miscarriage.
On the day of Logan's diagnosis, my husband & I decided that we wanted a sibling for Logan as it would be such a shame for him to be an only child. We felt that both he and his younger sibling would get a lot from their relationship. In December last year, I fell pregnant but sadly had another miscarriage at 7 weeks in January. We conceived again in March and our baby girl is due on 3rd December.
In my current pregnancy, I also told the midwife at the booking appointment that I would refuse invasive testing, no matter what the 12 week scan results. I was automatically offered further tests because of Logan's condition, but refused anything that would increase the risk of miscarriage. My combined screening came back as 1 in 750 with a 1.4mm nuchal fold. I have had a detailed 20 week scan and a fetal echocardiogram and both have come back normal. I won't know for certain whether my little girl really is free of chromosomal abnormalities until she is born, but all the signs so far are looking positive. If she does have Down Syndrome, we will love her just the same anyway.
The decision as to whether to test or not to test further is a very personal one, and one that only you can make. I am not wishing to influence you in any way, but thought that I would let you know my personal experiences as you asked for any parents of children with Down Syndrome to reply.
Good luck, whatever you decide to do and I hope that everything turns out well for you xxx
The reason I am potentially high risk is because my son Logan (1 next week) has Down Syndrome and his condition went undetected. His nuchal fold measurement was 1.9mm and bloods were OK, the combined risk was 1 in 560 and his condition came as a terrible shock to us after he was born. I was 41 at the time. We very quickly did all the reading we could to get as much information on his condition as possible and have tried our best to give Logan the best in life that we can give him. We absolutely adore him and couldn't wish for a more loving and happy baby.
However, I had also had a miscarriage at 12 weeks in my first pregnancy (22 years ago) and had made up my mind before I went to Logan's booking appointment with the midwife that even if the 12 week scan came back as high risk I would refuse invasive testing as there is no way I would have risked a miscarriage.
On the day of Logan's diagnosis, my husband & I decided that we wanted a sibling for Logan as it would be such a shame for him to be an only child. We felt that both he and his younger sibling would get a lot from their relationship. In December last year, I fell pregnant but sadly had another miscarriage at 7 weeks in January. We conceived again in March and our baby girl is due on 3rd December.
In my current pregnancy, I also told the midwife at the booking appointment that I would refuse invasive testing, no matter what the 12 week scan results. I was automatically offered further tests because of Logan's condition, but refused anything that would increase the risk of miscarriage. My combined screening came back as 1 in 750 with a 1.4mm nuchal fold. I have had a detailed 20 week scan and a fetal echocardiogram and both have come back normal. I won't know for certain whether my little girl really is free of chromosomal abnormalities until she is born, but all the signs so far are looking positive. If she does have Down Syndrome, we will love her just the same anyway.
The decision as to whether to test or not to test further is a very personal one, and one that only you can make. I am not wishing to influence you in any way, but thought that I would let you know my personal experiences as you asked for any parents of children with Down Syndrome to reply.
Good luck, whatever you decide to do and I hope that everything turns out well for you xxx
It is helpful for me to hear your stories. I will be 35 when I deliver, and I am concerned about the increased risk of down's syndrome. I have already started to think about what I will do if my tests (which I plan on having) show indications of possible DS.
lozzy21
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I work with Adults with learning disability's and only a small preportion of them have downs. They can have there own flats, do there own housework, have jobs, even get married. Having a child with downs syndrome isent the end of the world, they can still go on to do the things a child with out learning disabilitys can.
Being a parent to a child that needs extra help is harder but also more rewarding. My aunt had twins through IVF and when they were born they found out the boy had downs. Her daughter walked hit all her developments as normal but her son took longer. She said she was excited when her daughter took her first steps but she cryed when her son took his. She loves them the same but she knew he had to work harder to do it.
Being a parent to a child that needs extra help is harder but also more rewarding. My aunt had twins through IVF and when they were born they found out the boy had downs. Her daughter walked hit all her developments as normal but her son took longer. She said she was excited when her daughter took her first steps but she cryed when her son took his. She loves them the same but she knew he had to work harder to do it.
Caezzybe thank you for sharing your experience as a parent of a DS child. Given your experience it really shows that the numbers they quote are just that - numbers. We are still undecided (i have over a week before we could have an amnio anyway) but my gut feeling is whatever is meant to be will be. I've been brown spotting all week and the 1% risk of miscarriage just seems too much.
Thank you so much for sharing your story. I am wondering (if you don't mind elaborating) how old were you when your son was born? I will be 35 when I deliver so I am really trying to think through all these issues. Thank you.
Logan will be so lucky to have a baby sister...and baby sister will be lucky to have Logan.
We've decided not to have an amnio and we are more than happy with our decision. Whatever happens it will be a baby that is loved by everyone and we look forward to seeing him/her in the near future.
It's a big weight off your shoulders when you finally make a decision isn't it?
I was at work when I received the phone call telling me I was high risk and when I ended the call I just sobbed. Not because I was worried about having a child with downs, but because my precious baby might be poorly and I was worried that she would suffer.
Once DH and I had made the decision that we didn't want the amnio and we would love our baby no matter what - I just felt very relieved and the pressure lifted.
I'm praying that your baby arrives in perfect health and wish you luck for the future xx
We've decided not to have an amnio and we are more than happy with our decision. Whatever happens it will be a baby that is loved by everyone and we look forward to seeing him/her in the near future.
It's a big weight off your shoulders when you finally make a decision isn't it?
I was at work when I received the phone call telling me I was high risk and when I ended the call I just sobbed. Not because I was worried about having a child with downs, but because my precious baby might be poorly and I was worried that she would suffer.
Once DH and I had made the decision that we didn't want the amnio and we would love our baby no matter what - I just felt very relieved and the pressure lifted.
I'm praying that your baby arrives in perfect health and wish you luck for the future xx
Thank you for your kind wishes. I was devastated when I received the call, but now we have made the decision its such a relief and I'm looking forward to feeling him/her move for the first time, plus I have an 8yr old daughter who is so excited about a baby brother/sister
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