Nuchal scan...results are scaring me

I'm in the States. They told me I have a 1/174 chance of genetic disorder possibility. After I declined the amnio they offered me a blood test called NIPD (non-invasive prenatal diagnostic). They take vials of my blood and look for cells from the baby that have journeyed out into my system. They can check for several genetic disorders as well as verify gender. So I took that test. You should ask your doctors if Australia has such a test. There is no risk of miscarriage, it's just another blood draw.

I wish you much luck and peace of mind! :hugs:
 
Have had more concerning news yesterday. My little lady has shown an echogenic focus in her left ventricle of her heart at her last ultrasound scan. I just received a phone call from my hospital that due to two markers having been recorded in relation to this pregnancy (first being my bloods having come back with increased risk for Down Syndrome at 1 in 26 chance) and now the echogenic focus at the 19 week scan, this brings my increased risk even higher, possibly at 1 in 13 for Down Syndrome. On Friday I will be seeing a specialist in relation to my options, but I really don't want an amnio which they are likely to recommend. I will also be scanned more frequently (every four weeks) starting with a scan which will be performed with the assistance of a fetal heart specialist to do an echo of her heart at 22 weeks gestation, and also a blood flow into the uterus test to ensure that she grows at a reasonable rate.

I am stressing to the max, which of course is not good for me or her, but still feel there is nothing to worry about. Has anyone else had any results such as this one? I could really use some guidance right about now as to what course you took in terms of tests.

My partner is super angry with the system at the moment also. He is more adamant that he doesn't want the hospital to keep on harping on about how this brings up the risk for Downs and that all they want is to perform all these tests on me when we have already said we will keep the baby no matter what the results, therefore no need to perform a test that could potentially cause a miscarriage.

The nurse told me on the phone that they want to do scans of the baby every four weeks so as to monitor her growth rate. I don't really understand what that has got to do with the results of the echogenic focus. She told me that because I am now at an even higher risk for all the abnormalities that I now cannot give birth to the baby in the low risk area of the hospital, but if she grows at a reasonable rate by the time I'm due I could still have her in the low risk area. What does everyone think? I live in Adelaide and will be having my baby in the Lyell McEwin Hospital.
 
I'm in the States. They told me I have a 1/174 chance of genetic disorder possibility. After I declined the amnio they offered me a blood test called NIPD (non-invasive prenatal diagnostic). They take vials of my blood and look for cells from the baby that have journeyed out into my system. They can check for several genetic disorders as well as verify gender. So I took that test. You should ask your doctors if Australia has such a test. There is no risk of miscarriage, it's just another blood draw.

I wish you much luck and peace of mind! :hugs:

squiggy

We have 2 tests available in Australia. Igenescreen which tests for the 3 major trisomies and the blood is sent to Singapore and Verifi Prenatal which tests the major 3 plus sex chromosome issues such as XYY, XXX, X etc and also will tell you gender, the bloods are sent to the States.

I went for verifi as hubby has a chromosome abnormality called XYY syndrome.

Susan
 
Have had more concerning news yesterday. My little lady has shown an echogenic focus in her left ventricle of her heart at her last ultrasound scan. I just received a phone call from my hospital that due to two markers having been recorded in relation to this pregnancy (first being my bloods having come back with increased risk for Down Syndrome at 1 in 26 chance) and now the echogenic focus at the 19 week scan, this brings my increased risk even higher, possibly at 1 in 13 for Down Syndrome. On Friday I will be seeing a specialist in relation to my options, but I really don't want an amnio which they are likely to recommend. I will also be scanned more frequently (every four weeks) starting with a scan which will be performed with the assistance of a fetal heart specialist to do an echo of her heart at 22 weeks gestation, and also a blood flow into the uterus test to ensure that she grows at a reasonable rate.

I am stressing to the max, which of course is not good for me or her, but still feel there is nothing to worry about. Has anyone else had any results such as this one? I could really use some guidance right about now as to what course you took in terms of tests.

My partner is super angry with the system at the moment also. He is more adamant that he doesn't want the hospital to keep on harping on about how this brings up the risk for Downs and that all they want is to perform all these tests on me when we have already said we will keep the baby no matter what the results, therefore no need to perform a test that could potentially cause a miscarriage.

The nurse told me on the phone that they want to do scans of the baby every four weeks so as to monitor her growth rate. I don't really understand what that has got to do with the results of the echogenic focus. She told me that because I am now at an even higher risk for all the abnormalities that I now cannot give birth to the baby in the low risk area of the hospital, but if she grows at a reasonable rate by the time I'm due I could still have her in the low risk area. What does everyone think? I live in Adelaide and will be having my baby in the Lyell McEwin Hospital.

Checking for growth in a baby that possibly has Downs seems perfectly normal to me. I have not been through this myself, but my ex-MIL adopted a baby with DS and she had not developed well during the pregnancy and spent more than 2 months in the NICU because she was so small. She looked like a little baby bird. It is worth mentioning that the mother got prenatal care, but was not really good about it. They did not know the baby had DS before it was born, she just didn't put a whole lot of effort into appointments. She ate correctly, no alcohols, drugs or smoking. Just didn't have the money for appointments. Baby looked like a tiny baby bird when she was born.
 
I am pregnant with a baby who will have downs . We will be watching her as with babies with downs their heart is affected which causes poor growth in utero and more. The tests they are running are to protect you and baby not to make you angry or to fear any diagnosis. Kwim? I've been through a lot of tests and we are keeping her . We want to know everything for her now and what's to be expected at birth . I refuse to take this as a normal pregnancy now, so I will do all test ultrasounds and more to better the baby !
 
Thank you ladies for your insight. I forgot to say that so far she has grown at a steady rate and is normal size for her gestation, it is just that PAPP-A on my 12 week blood screen was low and so they want to monitor the placenta function so as to ensure that she grows at a steady rate.

Regarding the Down screening, my nuchal scan was normal at 1.3mm at the 11 week mark, it was my combined blood test together with my age (being 37 years old first time mum) that brought the result into high risk at 1 in 26 chance. My last ultrasound scan came back with the echogenic focus which is why I am seeing a specialist tomorrow to get some feedback on what can be done from here on. The nurse told me over the phone that a fetal heart specialist will be enlisted to do a specialised scan at 22 weeks where they will do an echo scan of the baby's heart. By that stage the bright spot may already be gone. I have done lots of research online since yesterday and I know I have the ability to do further blood testing to increase or decrease my risk for Downs, but to be honest, I don't really want to know because regardless whether she has downs or not makes no difference to my partner and I, we are keeping her no matter what the results.

I just want to say that it is still my and my partner's choice what we want to know about, and I can understand that most people would want to know if there is anything wrong, but in my case as of now I just want to monitor her growth and anything that might cause problems with her heart, but not have any further invasive testing to prove or disprove whether she is affected by downs. As I said, I am not afraid of having a child with downs, I am just concerned that the hospital is wanting to do so many tests that may not be necessary. Just like any other mother to be, all I want is a healthy baby, but at what cost do I have to prove she is healthy. My gut instincts tell me there is absolutely nothing wrong.
 
:) sounds good. I was just letting you know what I would be doing in my case being that Im going through it. Im not afraid of downs either. I just wanted to make sure that my baby has the proper care and will do all the noninvasive testing they offer. I cant waitto see all the scans I get. . WIth your levels I would have to say in my feelings that your baby is just fine to :) Good luck and take care
 
Thank you for your encouragement. I just feel so overwhelmed with emotion and the decision I have to make. I don't feel like I am that old. When I first found out I was pregnant, the General Practitioner who I saw pretty much put me in high risk category from the very beginning based purely on my age. I had a bleed at 7 weeks gestation which he said and I quote "Was always going to happen, seeing as you are at high risk due to your age". I left his practice and moved straight away onto a shared care practice which was a lot more supportive and did not look down on me for starting a family so late.

It is because of my first experience with the first doctor that I am so against invasive testing that may prove to be unnecessary and could possibly result in miscarrying my baby girl. The hospital that I picked to have my baby at and all my antenatal care at is supposed to be the best in Adelaide. However, it is also known for overtesting everybody who receives pregnancy and birth care there. I have discussed all my options with my partner and we have decided together that we will do every bit that we can to monitor her growth, which will be from four weekly scans and also an echo of her heart, but no more than that. I don't see the need to do an amnio. I still believe she is fine, I just want to enjoy my first pregnancy and not be forever worried that something is wrong. The nurse's phone call yesterday was completely surprising, seeing as my own shared care doctor told me I had nothing to worry about. Anyway, thank you for everyone's encouragement and information. I do appreciate it. :sleep:
 
Thank you for your encouragement. I just feel so overwhelmed with emotion and the decision I have to make. I don't feel like I am that old. When I first found out I was pregnant, the General Practitioner who I saw pretty much put me in high risk category from the very beginning based purely on my age. I had a bleed at 7 weeks gestation which he said and I quote "Was always going to happen, seeing as you are at high risk due to your age". I left his practice and moved straight away onto a shared care practice which was a lot more supportive and did not look down on me for starting a family so late.

It is because of my first experience with the first doctor that I am so against invasive testing that may prove to be unnecessary and could possibly result in miscarrying my baby girl. The hospital that I picked to have my baby at and all my antenatal care at is supposed to be the best in Adelaide. However, it is also known for overtesting everybody who receives pregnancy and birth care there. I have discussed all my options with my partner and we have decided together that we will do every bit that we can to monitor her growth, which will be from four weekly scans and also an echo of her heart, but no more than that. I don't see the need to do an amnio. I still believe she is fine, I just want to enjoy my first pregnancy and not be forever worried that something is wrong. The nurse's phone call yesterday was completely surprising, seeing as my own shared care doctor told me I had nothing to worry about. Anyway, thank you for everyone's encouragement and information. I do appreciate it. :sleep:

How are you doing Barbi??? I live in oz too..I'm in brissy..I saw my Ob today and she wanted to know what I'm doing whether i do an amnio or not? Plus was offered a harmony prenatal blood test...I just am in two minds..i have a 1 in 111 chance of a DS.. I have put it to the back of my mind the lats two weeks but it came home to me again today...

I just dunno what to do:(
 
Thank you for your encouragement. I just feel so overwhelmed with emotion and the decision I have to make. I don't feel like I am that old. When I first found out I was pregnant, the General Practitioner who I saw pretty much put me in high risk category from the very beginning based purely on my age. I had a bleed at 7 weeks gestation which he said and I quote "Was always going to happen, seeing as you are at high risk due to your age". I left his practice and moved straight away onto a shared care practice which was a lot more supportive and did not look down on me for starting a family so late.

It is because of my first experience with the first doctor that I am so against invasive testing that may prove to be unnecessary and could possibly result in miscarrying my baby girl. The hospital that I picked to have my baby at and all my antenatal care at is supposed to be the best in Adelaide. However, it is also known for overtesting everybody who receives pregnancy and birth care there. I have discussed all my options with my partner and we have decided together that we will do every bit that we can to monitor her growth, which will be from four weekly scans and also an echo of her heart, but no more than that. I don't see the need to do an amnio. I still believe she is fine, I just want to enjoy my first pregnancy and not be forever worried that something is wrong. The nurse's phone call yesterday was completely surprising, seeing as my own shared care doctor told me I had nothing to worry about. Anyway, thank you for everyone's encouragement and information. I do appreciate it. :sleep:

How are you doing Barbi??? I live in oz too..I'm in brissy..I saw my Ob today and she wanted to know what I'm doing whether i do an amnio or not? Plus was offered a harmony prenatal blood test...I just am in two minds..i have a 1 in 111 chance of a DS.. I have put it to the back of my mind the lats two weeks but it came home to me again today...

I just dunno what to do:(

I am doing fine Tess, thank you for asking. I'm based in Adelaide. Your chance of having a DS baby are quite low if not almost negative. What you want to do (amnio or not) is very much up to you and the father of the baby, not up to your OB. It sounds to me like your OB is very keen on finding out for you, regardless of what your wishes are. My chances of having a DS baby is higher with 1 in 26 chance, plus the echogenic focus on top means I am even higher.

When I went to see the Registrar at the hospital I will have the baby in, his first question was "what have you been told so far?" I truly appreciated how he approached my situation (so did my partner) and we just told him what we had been told (including the fact that the nurse who rang me from the hospital two days before the appointment told me that with both factors my chances for a DS baby was more like 1 in 13. He screwed up his face at that, a bit like she shouldn't have told me any such thing because we would need to do further testing and invasive testing at that to determine what my fresh chances are. She just pulled a number out of her head. We made it quite clear that we are not doing an amnio as we are keeping her whether she has any problems or not.

We have told him that we are not doing any further testing, other than four weekly ultrasound scans and we have also discovered that my dates have been all screwed up (dates of gestation) which basically means that when I had my 15 April scan last (where they found the echogenic focus in the heart), it was way too early for that scan to be accurate as you need to be somewhere between 19 and 22 weeks at that stage for it to be more close to the mark. Therefore we are having another morphology scan in a few weeks time, which will give me a better idea whether there is anything really to worry about.

I truly believe in my heart and in my gut that there is nothing wrong with her, and if there is we will face it together. At my age I can not afford to abort her if she turns out to have anything as that would be the case every time we get pregnant. We want to have two.

On the plus side, when we went in to see the Registrar, there was a student midwife with him sitting in on the appointment. She will now be my midwife when I attend most of my appointments as well as be there for the birth. She has made me feel so much better, as we have been trying to find a midwife who we can keep in touch with and ask any questions from, so that I don't always have to ring or attend on my GP for any questions I have. She also measured my blood pressure, which was good, plus used the doppler machine to hear the baby's heart beat, which my partner had never heard before. All was really well, and yesterday I think I felt her kick for the first time, it felt a bit like having a heart beat a few times in the same spot, then it stopped as soon as I put my hand there. Anyway, I have waffled on for too long as usual, I am hopeless at keeping these posts short.

One quick question, what is a harmony blood test? I was told by the Registrar that the blood test they took in my week 12 tests are a lot more accurate than a second trimester test that can be performed later if you wish to do more testing. I decided not to do either the second trimester blood test or an amnio.
 
Hi Barbi

The harmony test is a blood draw that checks for the trisomys.I don't think there is a scan and its costs 1040.00.Actually I thinks its both but I was told it was accurate in predicting whether it has DS.I'm not sure what to do as money is tight, another gal I talk to on here and theres another option of waiting till the week 20 scan, looking for soft markers.But , I don't know what to do.

I hope all works out for you.We're all on different journies. I wish mine and others were easier.I thought pregnancy was going to be a little nicer and it hasn't been.
Everything seems a bit harder.I only take one day at a time now.Its all I can do...

Thanks for your story and I hope all goes well.
 
Hi Barbi

The harmony test is a blood draw that checks for the trisomys.I don't think there is a scan and its costs 1040.00.Actually I thinks its both but I was told it was accurate in predicting whether it has DS.I'm not sure what to do as money is tight, another gal I talk to on here and theres another option of waiting till the week 20 scan, looking for soft markers.But , I don't know what to do.

I hope all works out for you.We're all on different journies. I wish mine and others were easier.I thought pregnancy was going to be a little nicer and it hasn't been.
Everything seems a bit harder.I only take one day at a time now.Its all I can do...

Thanks for your story and I hope all goes well.

I know it is difficult to do this, but try not to worry. Your numbers are quite low 1:111 is really not a lot to worry about. The harmony test sounds interesting if you really want to know what the direct results are, but waiting till the 20 week scan is just as easy and may save you the cost involved with this harmony test. Of course, if you really want to know for sure, you will do what is best for you and baby not what everyone expects you to do.

Pregnancy is all about ups and downs, hopefully more ups than downs. I believe those 9 months are to prepare you for real life with a baby, which will always have as many ups and downs too. Taking it one day at a time is very smart thinking. If you do want to do further tests but are short on money for them, maybe talking to your midwife or getting some counseling might help ease your worries. How many weeks along are you now? Keep in touch, talking helps, it helps me at least.
 
I just wanted to interject some soothing thoughts as well. I'm 46, and we tried for almost 5 years...fibroids were our demise, and once removed we hit the jackpot.

Here in Canada, they do the nuchal test, and they do IPS Screening [looking at AFP, b-HCG, Papp-A, etc..] My nuchal was great at 1.0mm, but the bloodwork came back elevated for AFP [my down's risk is 1 in 10,000] but they felt maybe spina bifida risk. I went for a level 2 scan, and all structures on the baby are clear, fine and visible. I also found out that this test has a 75% false positive rate. Even the doctors said, they were highly confident this was a false positive, as the brain and bpd were good, the spine has no defects, and limbs and bones all looked good [Thank God] BUT it was the most horrendous 3 weeks wait of my life!

I also want to say that my original risk based on age was 1 in 10! and no matter what the odds..while they say one in something...that means that one -minus something, you have a chance of NOT having it!

It's such a scary and hair raising experience, but please keep the faith and remember that you are pregnant, and try to enjoy the experience. And dont' be afraid to say NO, if you don't want any type of test done [for me, it was AMNIO... it took us TOO long to get pregnant, and I'll be darned if I was going to put a probably healthy fetus at potential risk for miscarriage when I was continuing the pregnancy, no matter what].

Peace and :hugs
 
I just wanted to interject some soothing thoughts as well. I'm 46, and we tried for almost 5 years...fibroids were our demise, and once removed we hit the jackpot.

Here in Canada, they do the nuchal test, and they do IPS Screening [looking at AFP, b-HCG, Papp-A, etc..] My nuchal was great at 1.0mm, but the bloodwork came back elevated for AFP [my down's risk is 1 in 10,000] but they felt maybe spina bifida risk. I went for a level 2 scan, and all structures on the baby are clear, fine and visible. I also found out that this test has a 75% false positive rate. Even the doctors said, they were highly confident this was a false positive, as the brain and bpd were good, the spine has no defects, and limbs and bones all looked good [Thank God] BUT it was the most horrendous 3 weeks wait of my life!

I also want to say that my original risk based on age was 1 in 10! and no matter what the odds..while they say one in something...that means that one -minus something, you have a chance of NOT having it!

It's such a scary and hair raising experience, but please keep the faith and remember that you are pregnant, and try to enjoy the experience. And dont' be afraid to say NO, if you don't want any type of test done [for me, it was AMNIO... it took us TOO long to get pregnant, and I'll be darned if I was going to put a probably healthy fetus at potential risk for miscarriage when I was continuing the pregnancy, no matter what].

Peace and :hugs

Thank you Rashaa, it is so good to know that I am not the only one who is not willing to risk a miscarriage just to find out that our baby girl is fine, just like I know she is. It took me a lot less time than you, but each life in my eyes is precious no matter how long it took to make. Congratulations and when are you due?
 
You are by all means not alone Barbie. I'm 19 1/2 weeks, due Sept. 19th. When are you due?
 
Hi Barbi. I don't really have much to add just wanted you to know that Im also from Adelaide due to give birth at the LMH. I think you should go with your gut feeling.....
 
Hi Taurus8484, thank you for your comment. When are you due? I intend on not doing anything that doesn't feel right for all three of us, so going with my gut feeling has made me feel a lot better.

Rashaa, I am only one day after you on 20 September. I'm 19 weeks and 5 days today.
 
Just getting back to you Barbi, I'm 15 weeks.I have some additional problems with my pregnancy as I am suffering from anxiety and I have a history of it and it has worsened whilst pregnant.I keep saying go with your gut and it always pulls me in two directions to do the expensive blood test or just wait for 20 week scan.

I agree with some others on here I actually thought I would never fall naturally bad fertility numbers and anyway I just feel its taken us a long time to get here and what am I going to do anyway I am now 15 along:(

Just wanted to hopefully keep this thread going as posting it elsewhere kind of doesn't work.most people in maybe 2nd tri board may not be in the over 35 category and may not face this difficult choice.

Hope everybody is well..
 
Wow Taurus8484, you must feel so excited to be so close, in about two weeks time you will be able to say "any day now" as the due dates are always two weeks either side. Good luck with it all.

Tess, I know how you feel, I tried posting in other sections on this site and nobody really understood what it feels like to go through any of this at a tender age of over 35. I keep thinking I'm not that old, and most people are so supportive and saying that my age is more common now than it was in the past to bear children, but every time I have a scan I just want everything to be ok. All in all it is, but of course that little doubt does occasionally strike, my partner though is extremely supportive and so very good with me and my ups and downs. He is 10 years my junior, but you wouldn't pick it with the maturity he has shown all through this. I have to say I am so lucky to have him. Last week we went to the hospital for our next appointment with the high risk Registrar, and sitting in the waiting room just reaffirmed for me why I love him so much. There are various different couples all waiting for their appointments with either their first pregnancy or with various children they already have, and the main thing I noticed about all the couples is that the man in majority of those situations looked like he was shell-shocked with a baby on the way and not sure whether he is ready to become a first time parent or the next addition to the family. I just looked at my man and thought I am so lucky to have you knowing this is what we both want.

That is what makes this process a little more easier, as I said I still have my ups and downs but that is all getting me ready to become a parent for the first time. I truly cannot wait to lay eyes of my little Maia. Take care Tess, get the help you need and/or want and you I am sure will be fine. You are now 15 weeks and every day is one day more than you had the the day before.
 

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