Age 33. Was told that blood testing "would just muddy things up." Probably would have, honestly. Wasn't told any other measurements or given a # out of # odds. In general, was kind of freaked out that no one seemed to really appreciate/understand/know the probabilities I wanted them to know, particularly considering that we were thinking about a potentially risky procedure that did have such numbers. I mean really, what else should a genetic counselor really know or be able to look up? Still bothered by this.
Retested 72 hours later just before CVS; NT=2.5 to 2.9 max. Dr. said this was "normal" now, didn't think the prior number was inaccurate. With that kind of rapid change, I wondered whether there has ever been a study of the stability/normal variability of NT (measuring, say 30 random pregnant women every day throughout this four week or so window to see how much fluctuation was normal, or how many normal pregnancies would reach a 3.5mm at least once, etc.). Haven't come across that kind of study yet - could explain some of the variability in outcomes. If we'd scheduled the ultrasound on Monday instead of Friday I think we probably would have just gone along as normal. Now that's shot.
FISH results just came back normal today, QUITE relieved, but still waiting anxiously now for the rest.
I've found these posts to be very helpful. I've also found the following site to be a very good and comprehensive resource; from 2001 but probably about as up to date as necessary since it looks like most of the formative research was conducted in the 90's anyway:
I also found a table from Souka et al. (2005) reproduced a couple of other places online that is the only thing I found that breaks down NT outcomes into smaller increments than just normal vs. big. It includes a column of "alive and well" outcome by size, which I had to keep going back to, and still do. It's a larger number than other numbers would lead you to believe (like the "5% false positive rate" that is thrown about everywhere) You can find it here:
At our 13 week ultrasound, our excitement and happiness turned to worry when we were told our baby's NT= 4.9. We were devastated by the news that our baby was at an increased risk for Trisomy 13, 18, 21, and heart defects. I am 26 years old, husband is 31, and this is our first pregnancy. Being 13 weeks pregnant, we were told that I was too far along for the CVS test, so we waited until I was 15 weeks pregnant to have an amniocentesis. In the meantime, my bloodwork results were calculated for the risk of chromosomal problems. Taking my age into consideration, my calculated risk for Trisomy 21 is 1:60, T13 1:124, T18 1:124. Fast forward to today, we received the FISH results from my amniocentesis and our baby tested negative for all preliminary chromosomal abnormalities (T21, T13, T18, AFP protein, and others I can't recall). These FISH results have a high accuracy rate, and it is likely that no other problems will arise when the full amnio results are in next week. I should add that my dear sister has Down's syndrome (T21), and that her chromosomal work up shows that there isn't a chromosomal disjunction in our family, and that hers is a spontaneous case. This fact also eased my worry that perhaps I had an inherited chromosomal dysfunction. I hope that our story gives you all hope, and we pray for all to have healthy babies!
At our first 12 week scan we were told our baby had a high NT result at 3.88, we were given brochures to read over as they had thought our risk for chromosone abnormalities would come back high. We were devastated I could not speak in the car on the way home and my husband was in pure shock. We waited two days to hear from the midwife who delivered the horrible news that we had a 1:26 chance of the baby having chromosone abnormalities. We could not understand why this was happening to us as we are only 25 years old, extremely healthy and no history of any chormosone abnormalities in our family. We then booked in to have a CVS completed on Friday the 7th of Dec I found this uncomfortable but not painful however afterwards did have some minor cramping for the following two days, we then received the FISH results the following day which came back negative.
Two days later we received more bad news that I had an infection which caused the cells to die and not be able to culture correctly and therefore I could not be given a final result. The midwives suggested I book for an amnio as the FISH results can have false negatives/ false positives. We had the amnio completed on the 21st of Dec and had to wait over the chrissy period to obtain full results. Yesterday I received fantastic news that our baby is 100% healthy and the test was all clear.
I thought I would post our story to give others some hope as when I received all the bad news I found this forum to be extremely helpful in staying positive. I wish everyone the best of luck remember to stay positive.
It has been reassuring to read others in the same situation as me!! I have just had my NT scan at 13 weeks which showed a measurement of 3.4. Haven't got my blood work back yet so haven't decided on amnio yet. Very stressed out at the moment just wondering what to do!!
best of luck to you. your story gave me hope as i am sooo worry tonight. All i have been heard about my NT test was great news. 2 doctors saw it and both said that it is a perfect Nt test. both my blood tests came back to be good as well. today my doctor told me everything is good and gave me a number of 1:250 chance. I have to mention i am 41 and this is our first baby. although she said it is a good news i had a very difficult evening being emotional and worry. It is just a scary number. I was hoping for 1:700 . i guess based on my age that was a very wishful thought!! when i told my doctor about my concern she said if i wish i can have the amnio test but she does not think this is necessary at all.
What should i do?
I had my 1st trimester screening last week...Iam 28 yrs old....my screening test came out to be negative.but my NT is 3.1 mmand my risk is 1:360.now the doctors have asked me to do an amniocentesis..this is my 1st preganancy and i am new to the US.I am so scared....Has any one had a similar experience.is it safe?someone please help!!!
As I posted in September I had already decided to schedule an amnio for the beginning of October. I was ready to find out and move on. About a week before my amnio appt I had my regularly scheduled midwife appt. Her and I talked over everything we had been through and how I was feeling about it. She saw that I was having a lot of anxiety and frustration with the process. She pointed out that I still had the option of doing the second blood draw for the sequential screening (even though the genetic counselor said it wouldn't make a difference at this point.) I agreed with my midwife and I had my blood drawn that same day.
The day before my scheduled amnio I received the results from the second draw for the sequential screen and I was shocked with the results: Negative Screen. What??? My risk of DS changed from 1/10 to 1/520. I was so confused. I even double checked that the results had my name on them and not someone else's.
I decided to keep my amnio appt so I could talk with the genetic counselor about the new test results. We met with yet another counselor, an older woman with a wonderful demeanor. She was incredibly nice and understanding of my frustration and confusion. She shared with me that in reality she is a 'numbers' person, but that this is a 'heart' decision and she wanted to support me in whatever I needed.
She shared with us that the drastic change in odds was not necessarily common and there wasn't much research into it, so it was difficult to explain why. She was very optimistic and said that her professional recommendation based on the numbers was that we were most likely in the clear and not in need of an amnio.
Good news, right?? I honestly felt as if I had been on a crazy roller coaster and I didn't know which way was up at this point. My husband and I took a few minutes to talk it over and I told him that I still wanted to do the amnio, because I knew I wasn't emotionally in a position to walk away with uncertainty. As soon as I told the counselor I would continue with the amnio anyway I felt an enormous weight lifted from me, as I knew that soon, we'd know for sure. I felt an incredible amount of relief, just from taking the test. I didn't stress about the results, I knew they would come and we'd deal with them once we received them.
A week later I got a call from our counselor with good news, a completely negative screen!
As many of you know, this is an UP and DOWN journey. I wish all of you the best of luck with your own journey.
hi , my wife got 3.8mm in NT scan . she is 23 yrs old and our doctor has suggested to go through some tests(blood test ,triple marker ) possible DS. they mentioned that NT scan confirms 50% that the baby will be abnormal and think about termninating the pregnancy. we are so scared . please advise
I was the person who orginally posted this thread 3yrs ago. I wanted to let you know I now have 2 healthy boys. I had just turned 25 when I was going through this nightmare. Let your wife know that the odds for a healthy baby are in her favor. The 50% risk makes no sense at all. I would ask for the research behind this. I am a nurse myself and believe me I researched this alot and kept getting the same outcome. False positives are incredibly high. The NT scan by itself is basically useless, you need to combine it with the two seperate blood screenings to get a final result. It's like taking have of an exam and not finishing the rest and accepting that as your final score. Wait till you get everything back. Alone my scan said I had a "positive" screen as my son's measurement was 4.1. After all the bloodwork came back I was in the clear.....by quite a long shot too. I should mention they found things wrong in other scans down the road and I still had a perfectly healthy baby boy. Just know that in future pregnancies you don't have to do the IPS testing. I opted out of it for my second son as the stress ruined my pregnancy. I only had 2 u/s the whole pregnancy and had a midwife this time instead of an OB (they love the #'s game) and had a stress free amazing pregnancy and birth resulting in another happy, healthy baby. We will have a third in a couple years and again I will forgo the IPS testing. Good luck and remember the odds of a healthy baby are in your favor.
thanks for your comment on this. we had received the blood test results ,which came out to be normal and ratio given 1:1460 (not sure what that fiure mean). now we're bit happy and relaxed and always pray for our little to be healthy. doc suggested us to go through an other NT scan in next two weeks (current week is 11) just make sure everthing's fine.
ia,m glad that i found this thread which is very informative and interactive as well. thanks to " wannabamommy" . thanks a lot
I am 41 years old, 14 wks pregant on my second baby. I had my NT when i was 13 weeks. The u/s guy said everything is ok and he gave printed me a complimentary picture of my baby. After the following day my family doc called me and asking me to come down to his clinic immediately and he wanted to read my NT results. I came down the following day. My doctor read the result and said that my NT results was good. But the guy who took my NT said that since my age is 41 he advice that i should consult a genital conselour. I can sense that they wanted to tell me that something wrong with my baby. Then i went to google abt this bad NT results and i came across this forum. I thank God I am release. with so many people who shared there experience about NT and DS.
yesterday we saw a genital counselor and she offered us an amnio test. she explained to me that base on the NT result everything was fine. Since my age is 41, i have 2% risk to have ds baby. and base on the NT result i was lower down to .5%. but still she said that is not accurate and Amnio is accurate.
my husband and I refuse amnio test, why? its because i can feel to myself that my baby is ok. and if my baby will have problem we will not terminate my little one in my tummy. its because we believe that God gave this to us and He is the giver of life. so no matter what happen we will take care of our baby. so why do i have to go Amnio. they will get some cell from my baby? and taking amnio test has a 1/200 of chances of miscarriage. and it will hurt my little one. never mind for amnio test.
the genital counselor told me that amnio will help us to see if everything is ok. and this will keep us not to worry and get ready for the future. again never mind, i am ready for what will happen to my baby.
my due date is aug 4. i will come back in forum and i will update you about my little one.
Glad to hear everything came back ok. Those are great numbers. Why does your doctor want to check again? I say leave it alone. Why put yourselves through that again?? Wasn't once enough? Your baby is healthy and your odds are excellent. Go enjoy your prengancy and don't worry about more testing. Doctors these days just don't know when to leave well enough alone. This testing is something new so they don't really have it down to a science yet and it seems to me the false positives are so much higher than they were orignally planned to be.
iam 18 wks pregnet and the ultrasound results show enlarge kidneys with extra fluid in them. the worts part is that the dr related to down syndrome. my next ultrasound is in 2wks. my next obgyn apointment is in 4days so i hope to get some answers and shared them with you. blessings and good luck to you and your babies
I am 27 years old, my husband is 25. I went for my NT screening on Monday along with blood work (I was 11 weeks & 6 days), the NT was 2.5 (which the tec saud was good because it was under 3) and we waited 2 days for the blood work to come back...apparently my blood work levels were low putting me at a risk of 1:14! I was shocked and have been crying on and off ever since, I know this is just a screening and it's just telling us our odds but it makes no sense! We met with a genetic counselor yesterday and I did schedule an amnio for March 9th but I'm really hoping and praying that the u/s prior to the amnio gives us the reassurance we are looking for. It helps reading that a lot if you had false positives and I keep praying the sand for us. We like most of you ate perfectly heathy with no family history, it's just hard to believe that my risk is the same as a 48 year old woman. I have so many mixed emotions....:(
Hi, I am 29 yrs old and i am 14 weeks pregnant with our second child.
In my first pregnancy with my 4 yr old i was given a 1:20,000 chance of having a baby with ds, so when i read the results of this test I was beside myself.
At 12 weeks 4 days my bubs nuchal fold measurement is 3.5mm. But my bloods are good and a specialist we consulted with said that there looked to be a good nasal bone present. But my calculated risk is 1:185.
It has been a week since i have received the results. And I am scared to death. My husband is thinking positive, but I cant help to prepare myself for the worst outcome. After a week of thinking we did turn down the option of a cvs as the risk was a little high for us, and the amnio seemed to be the right choice for us. My docs amnio odds are very good at 1:2000 of miscarriage. So we are trusting in her.
I can't believe this is happening to us, and my heart and soul are hurting.
I am so scarred to hear the outcome of the test as i know that i am not emotionally stable..This thus far is the worst experience of my life, and I pray to God that it turns out.
Finding this site and reading the positve outcomes has been a little comforting, but the only thing that will put my mind at ease is hearing that my baby is fine , and in roughly 6 months time , holding my precious sweetheart.
I pray ladies that your outcomes are good..
hi ladies: on my 20wk sonogram; the sonogram dr found enlarged kidneys with extra fluid in them. and the dr related to down syndrome, dr said that babies with ds have this issue. so i went to my obgyn to get more answers and she said that its true, but also said that perfect normal healthy kids have this kidney issue. but she told me that my blood work came back a bit abnormal 1/500 to have a ds baby.so when u put this 2 things together kidney issues + abnormal blood results the chances of a ds baby went to 1/270. so i decided to get the amnio, i had it yesterday. it went smooth as a feather. now iam just wating for the results praying that everything would turn out just fine so that i could share the good news with u ladies. keep your fingers cross and say a little prayer for my baby and me so everything woul be ok. good luck ladies and have faith like we say in spanish "La fe mueve montanas" faith moves moountains. so good luck and lets all stay positive so good things happen in our life. i know its hard now, but lets look at this as a learning experience. good luck and u are in my prayers.
hi im 23 years old when i was 21 with my 3rd pregnancy my doctor told us that our baby had DS and other medical problems we decided to terminate the pregnancy it was really hard for us, im pregnant again im 13 weeks and 3 days i did the NT test when i was 12 weeks its was 2.9mm the doctor told us i was in high risk of having a baby with DS i was devastated, we did the blood test and two days later the doctor call me and told me that it was abnormal and give me the risk of 1:8 for DS i was really worried and decided to do the cvs test now im wating for the results, i cant stop crying and i cant sleep... i dont know why this is happening to me i dont smoke or drink alcohol or use any drugs, and my two fist pregnancys wore perct with no problems or any conplications... PLEASE PRAY FOR US THANKS...
i am praying for u. I hope everything turns out..It would have been so hard to deal with it once, but i can not imagine going through it a second time. It isnt right ..My husband and i were saying the same thing. we dont smoke or do drugs, i even made my husband give up beer for 3 months before we started to try and concieve (conceive), and i dont drink at all.
You still have a chance that it will be ok. please look after yourself..
Thinking of you.
I had pretty much the exact same issue just last week. Im also 25 and i was given a 1:29 chamce of having a baby with all these problems. Although this sounds high and IS technically high risk, its still only 3%. Me and partner decided that we'd continue with the pregnancy no matter what, i was then advised not to risk losing my baby by having a cvs or amnio. Me and my partner are extremely positive about everything now and we'll get 3 more detailed scans over the next 2 months which would pick up any physical abnormalities or heart defects. I hope u can think positive too, most babies who are considered to be a high risk turn out perfectly healthy! X
I went for and ultrasound yesterday 12 weeks 2 days and have been told NT was 3.3 and to have a CVS would be wise, am 37 and have a 14 month old. So busy as you were when you wrote your post. Its stressful and hard to make any decision when given a statistic. Our first son is healthy and I feel even more lucky to have him whilst going through this hard time of testing and decision making
I just wanted to give an update that I had my twin girls and they are perfectly fine. No DS no nothing. Even though I had CVS I was still worried that maybe there would be something wrong. I will never forget that day when the nurse said after the ultrasound that it looked like both of them have DS. Waiting for test results is a nightmare in situations like this. Just wanted to give hope of a positive outcome to all the worried moms <3
hi ladies....just wanted to give my update...had my amnio yesterday, it was uncomfortable, but not as bad as waiting almost 4 weeks to have it done, and then another 24 hrs for the results.
Got my FISH results today, and all is good my baby doesnt have downs syndrome or the t18 or t13....I get the full reading in 2 weeks for other rare abnormal stuff, but my doc is happy,
My nuchal test was at 12w.4 days gave us a 1:185 chance, we had a nuchal thickness of 3.5mm..but i had good bloods. I know odds were in our favour still, but i am happy with the choice i made, and know that the stress that i went through is now over, and i can enjoy my pregnancy and live again...there is hope, i just want u all to know that...even though i had a 1:185 chance, it is terrible to hear that there might be something wrong with ur child.
I am in australia, and it was on the news yesterday that there will be a blood test available in about a year, that will take away the fear of anmio and cvs.....a year to late for us, but i am happy that there will be better testing, cause the pain of making decisions, and waiting long for proceedures is hell...
Hi all I went formy scan the Over day I am 12 weeks 4 days and had my nt as well witch was not good news it was 4 mm me and my partner are just u no what I mean had the blood test done on the same day hope tO get them back Friday and go from there going for a scan when im 16 weeks any one els had a 4 mm and turns out every thing ok
Update I went for my scan at 14 weeks and all is good the 4 mm fold has gone and ty had a look at the heart brain legs hands and so on and all is looking very well I wood have had to go in on the 16 week scan to have it all check out ie brain and heart and so on but because of how petite I am ty was Abel to see it all still going for my 16 weeks scan and amneo but so far it all look good
oo dear your comment has come as a ray of hope for me as my sono shows 1.83 NT but my test shows the risk of DS am really do not know what to do ,as DR says may be its due to age .please relpy as soon as possible as i do not want to go for Amino test...thnx
oo dear your comment has come as a ray of hope for me as my sono shows 1.83 NT but my test shows the risk of DS am really do not know what to do ,as DR says may be its due to age .please relpy as soon as possible as i do not want to go for Amino test...thnx
just to update again..i got my full results all clear..i am now enjoying this gift from god..i hope and pray that everything will turn out for u ladies that are going through this nightmare..it was the worst time of my life...i had an ultrasound last week..bub sucked her thumb...it brought tears to my eyes..i hate that there isnt a better way of testing for this...the stress is terrible. but i got through it .. there is hope...i want to enjoy the rest of it now, as it feels like i went through the middle of this pregnancy fearing the worst. its behind me, and every move and kick is her way of telling me..its alright.xo
I can fully understand how sick with worry you all are, me too. I'm a real oldie, 43 and pregnant with my first baby. Had 2 miscarriages last year and was starting to believe everything was going ok with this pregnancy....no such luck. NT measured 3.6 and combined with bloods and my age give me terrible chances. DS 1 in 5, trisomy 18 is 1 in 75, trisomy 13 is 1 in 45. Will definitely have amnio in about two weeks, but not holding my breath for a good outcome. Have no idea what I will do with the results, but I will definitely keep this site updated with news, good or bad. Wishing all you lovely mothers-to-be the very best of luck with your pregnancies, keep well and stay strong.
Well when for my scan + amnio 16 weeks 5 days had the scan 1st my baby looks very well brain heart legs arms face and so on look very good the fluid has defo gone thank god I op out of having the amnio because there was no sin of downs so we are going for a mover scan on the 14th may I'll be 20 weeks so will let u no how it go hope to all u new mums to be get good news and every thing works out for u all x
My daughter is 12 weeks, 4 days pregnant with 2nd child. She just had NT and it is 9mm. I have not heard of one that high. She is supposed to get amnio tomorrow. So scared of the very high NT reading since she is 34. Any comments from nurses or medical professionals?
sorry am 13 weeks and 5 days pregnant got my amino book in 2 weeks was ment to have cvs but they couldnt do it so told me to have an amino instead is just really confusing and it seems to be going on for ever but how many questions i ask my doctor know one answers them
DH and I are 27 years old and this is our first pregnancy. I'm almost 14 weeks. NT results show 1:10 chance of Down's. I was devasted when I heard the news. I'm still in shock. I go in tomorrow for a CVS test and will hopefully get definitive news early next week. 12 week NT was 2.1 mm and my bloods showed very high HCG (5.62 MoM) and very low PAPP-A (0.39 MoM). Really praying this baby is healthy and has the right number of chromosomes. I know some people choose to keep their child regardless of any defects and I applaud them, but I have decided that I cannot cope with a Down's child for life. Praying that we don't need to terminate this pregnancy.
My friend had this test done & she had the same results. Her little girl was born healthy. I know someone else who had the test done, & got good results but their child has downs. The test is only so accurate. I believe my doctor said only 40% accurate? It's not a certain thing.
I am 13 weeks pregnant and 37 years old and just did the prenantal testing, I just got a call from the doctor today and she told me I am borderline for a down syndrome baby. I am at a loss for words and kinda scared. She also said that she will be sending us to to nest level to go talk to somebody that knows the numbers and ratio;s of this. Should I be worring or is this a normal procedure for everybody to go talk to somebody...
Ok, so I posted earlier this year with a horrible combined test result (nuchal fold, blood results and age). Downs Syndrome was a 1 in 5 chance for us. We decided to have amino and indeed the results came back that my little fella had Downs. He didn't survive long after that and I had to deliver him at 18 weeks. I got the chance to hold him and say goodbye, he was special.
The reason I am writing this is not to freak all of you out, but because I promised I would come back and give the ending to my story. It has an ending full of hope now, we are in the middle of IVF with donor eggs and we will see what happens from here!!
Do yourselves a favour, if you have a high combined reading, see a specialist, get the amnio ( or another form of test done) and get a definite answer. The amnio didn't hurt, and it wasn't what made me miscarry. Also, as my specialist advised me, stop referring to "Dr Google". Don't look up medical data on the Internet and rely on it, all sorts of hacks post "medical advice" on The internet. If the online forums and chats help, then by all means continue with them, but remember everyone's story is going to have a different and distinctly personal outcome, no two will be the same.
So lovely ladies, wishing you all the very best of luck and hope for your baby dreams. Fingers crossed for you.
My Wife and I had our dating scan today,
the sonographer said she measured an NT of 4.3 and my wife is 11w2d.
had the joy turn to utter worry, but have hope that our first child will be all we
have talked about and we will love them no matter what, that being said i feel i need to educate myself in order to understand what is happening and help my wife through the process. My Wife and i are both 24 and have grown up very quickly today.
Hi, Im a 35 years old and im pregnant with my fourth child. I have 3 perfectly healthy kids and no abnormalities in my immediate family.
At 12 weeks ,4 days pregnant i went for a nt scan and the sonographer called my doctor gp to book me for a amino test asap. I also had a blood test 2 days before the nt scan. I was told i was high risk and that i need to do further tests. I also like to ad im 0 negative blood type and throughout my pregnancies i had the anti d injection given to me as all my kids have my husbands blood type.
I wanted to know if im high risk because im 0 negative blood type, i think the blood work came back high risk and the sonographer noted there was more than usual fluid at the back of the babys neck. Sorry i dont have the report next to me i dont have my stats, as my Gp took it (im wanting a copy of it very soon)
Can someone help me i need more information regarding my condition and very anxious lots of sleepless nights im 13 weeks i need to wait until 15/16 week until the amino is done.
I'm 13 weeks today, pregnant with first baby. My partner and I are both 28, and pretty healthy with no family history to be concerned about.
I had my first scan last week at 12+2 and after nearly an hour of being scanned was told our baby is showing an NT measurement of 3.7mm.
Trouble was the sonographer couldn't get a proper side on picture of the baby in order to make an accurate measurement and so just settled with the closest she could give us...which still isn't perfect.
We were left wondering what happens next and spent the weekend in a total daze with episodes of panic and tears. I feel terrible but just knowing that there may be something wrong with our baby has made me completely disinterested in the pregnancy. I don't want to look at the scan pics, or talk about the future with a healthy baby in it...incase I get attached and this doesn't happen.
The fetal medicine nurse called on Monday and has given us an appt to go in tomorrow for a further scan to double check and for the blood test results to be told to us. I've never felt more hopeless. My partner doesn't talk about it much, I think he's just blocking it out until we know more, but for me every day is a struggle just to get to the point where we actually know what's going on.
Fingers crossed for good news tomorrow and I'll post to update.
Godd luck to all of you!x
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