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Help please, NT positive for D/S?

After my first trimester screening was done two days ago I got a call from my doctor's office saying that I have and increased risk of 1/90 of having a baby with down syndrome. When the U/S was performed the doctor said the nuchal measurement was good: 1.8 (he said anything below 3 is considered normal). So apparently it is my blood test which shows the risk. I am 44 yo, 12 weeks pregnant and mother to a beautiful and healthy 4 yo boy who was born when I was 40. My husband and I just wanted to have another child so that he doesn't grow up alone. Now I'm so stressed and overwhelmed by these results. I can't sleep, anxiety is killing me... When reading several posts in this forum I found out about "soft markers" but neither the doctor nor the genetic counselor mentioned anything about seeing those markers in my baby's ultrasound. Can these markers be seen at 12 weeks? Any thoughful and sensible advice would be deeply appreciated. Thanks and God bless you all!
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Avatar universal
Stay strong ladies, I have walked your walk and I'm nearly 4yrs down the line.. It's a long and sometmes painful journey but the rewards of having a child with Down's syndrome are more than you could ever imagine. My daughter is my life, and I couldn't imagine things anyother way. My advise is to give yourself time to adjust, if you could step forwards in time to just get a 5 minute glimpe of the future with your baby, I promise you, you wouldn't worry. A friend gave me that advise when I was expecting my daughter and ofcourse I didn't believe her at the time but it's so true.. Our lives are full of incredible love and it's all because of our beautiful daughter. I hope for the very best for you both but please believe me when I say, whatever life holds for you and your baby;s itwill be wonderful x
Helpful - 0
Avatar universal
Hi again Lydia, I just rembered reading somewhere in this forum and in other internet sites that first trimester screening is done between 10 and 12 weeks of pregnancy because after 12 weeks a measurement of the nuchal thickness might not be an accurate marker for DS. I just thought I should mention this to you since you said your second u/s was done at 14 weeks weeks. Hope this helps :)
Helpful - 0
Avatar universal
Hi Lydia, thank you so much for your comment, it's comforting to hear from someone that is on the same situation like me. I'm sorry to hear news were not good after your second screening. I have read that nuchal measurements do vary a lot from one u/s tech to another. So if you feel like getting another opinion you should go for it. I've also heard of cases of couples with the same odds of 1:2 that had a healthy baby in the end, so don't lose hope. You may want to go for a diagnostic test like CVS or amnio, which are invasive. This is a decision only you can make. I'm struggling with the same decision myself. On the other hand I'm sure you will love your baby regardless and that s/he will bring immense joy to your home. Please keep me posted, it's so important for women in our situation to find support and understanding. My thoughts and prayers are with you.
Helpful - 0
Avatar universal
Hi Beth,

I am in the same situation. I am 43 going 44 yewars old, 14 weeks pregnant. I had the nuchal measuerement at the hospital (NHS) which came out normal (2.4), but my blood test (HCG was twice higher than normal). I was told that I had 1 in 70 chances of having a baby with down syndrome. I was also advised that the next step is to have (if I wanted) that invasive screening(CVC and amnio) but if I wanted to have an informed decision I could do another scan privately which will allow for 2 additional markers to screen for Down syndrome. I did this yesterday at a private clinic in Kent. The gynecologist used 2 markers (existence of nasal bone and hert flow of the baby). A nasal bone could be seen which is good, as babies with Down syndrome usually do no show a nasal bone, but unfortunately the heart flow was not normal...the doctor did also another nuchal measurement to my surprise came up this time higher (3.5) ! He sadly told me that given his nuchal measurement, my baby heart flow, my blood test (high hcg) and my age (43)...this all put me in 1 to 2 to have a baby with Down's syndrome....I feel very sad and confused...and I now need to think about having that invasive screening (CVS or amnio)...which carries 1 in 100 of having a miscarriage...this really worries me as this is my first baby and during the fertility test I did with my GP I was told that my egg quantity was low..which meant that if I leave it any longer I amy not be able to have a child. I feel very confused mainly on the nuchal measurement being different from the hospital measurement and private clinic measurement....I feel like I want to have another scan to see which measurement is right but I am confused. I asked that private doctor if babies who show abnormality in heart flow end up being normal and he said yes...my logic is telling me that if the nasal bone could be seen on the scan there is some hope, and the nuchal measurement was normal vis the NHS screening, as to the high HCG, could it be related to the fact that I suffered from very bad pregnancy symptoms (very bad nausea for 2 months...i could not work, i was ill every day...??? so many questions...if anyone has any comment or advice please write to me as I feel really lost... as to you Beth, maybe you might wish to consider to have a private scan for the 2 markers mentioned above, check with any private clinic in your area, it costes me £120. I wish you strength..
Helpful - 0
Avatar universal
Hi Beth,

I am in the same situation. I am 43 going 44 yewars old, 14 weeks pregnant. I had the nuchal measuerement at the hospital (NHS) which came out normal (2.4), but my blood test (HCG was twice higher than normal). I was told that I had 1 in 70 chances of having a baby with down syndrome. I was also advised that the next step is to have (if I wanted) that invasive screening(CVC and amnio) but if I wanted to have an informed decision I could do another scan privately which will allow for 2 additional markers to screen for Down syndrome. I did this yesterday at a private clinic in Kent. The gynecologist used 2 markers (existence of nasal bone and hert flow of the baby). A nasal bone could be seen which is good, as babies with Down syndrome usually do no show a nasal bone, but unfortunately the heart flow was not normal...the doctor did also another nuchal measurement to my surprise came up this time higher (3.5) ! He sadly told me that given his nuchal measurement, my baby heart flow, my blood test (high hcg) and my age (43)...this all put me in 1 to 2 to have a baby with Down's syndrome....I feel very sad and confused...and I now need to think about having that invasive screening (CVS or amnio)...which carries 1 in 100 of having a miscarriage...this really worries me as this is my first baby and during the fertility test I did with my GP I was told that my egg quantity was low..which meant that if I leave it any longer I amy not be able to have a child. I feel very confused mainly on the nuchal measurement being different from the hospital measurement and private clinic measurement....I feel like I want to have another scan to see which measurement is right but I am confused. I asked that private doctor if babies who show abnormality in heart flow end up being normal and he said yes...my logic is telling me that if the nasal bone could be seen on the scan there is some hope, and the nuchal measurement was normal vis the NHS screening, as to the high HCG, could it be related to the fact that I suffered from very bad pregnancy symptoms (very bad nausea for 2 months...i could not work, i was ill every day...??? so many questions...if anyone has any comment or advice please write to me as I feel really lost... as to you Beth, maybe you might wish to consider to have a private scan for the 2 markers mentioned above, check with any private clinic in your area, it costes me £120. I wish you strength..
Helpful - 0
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