Nuchal transluscency test WWYD

[Edensmum]

It seems the Quad screen has been replaced with a new test a blood test around nine weeks in combo with a detailed nuchal fold u/s. The dr said it's pretty new and couldn't give me rates for false positives which it the big reason I declined that quad screen last time.
Anyone know anything about these tests? Would you?

[Swimfreak78]

They do it with an ultrasound which makes it supposedly more accurate. I had it when I was pregnant with DS. You might want to check with your insurance to make sure they cover it.

[kdeunc]

With this pregnancy I chose to do this screen because of my age (38 at time of birth). It gives you odds on Trisomy 13, 18 and 21. My odds went from basically 1 in 100 for Trisomy 21 to 1 in 49. I spent 5 weeks worrying until I had an amnio which revealed that DD did not have Down Syndrome. I could have opted to wait to have a quad screen instead of the Nuchal Translucency Test. If you are not interested in amnio for a definite diagnosis I would not do the early screen and instead do the quad if interested.

[fivi2]

I did it with my girls about three years ago. I didn't have any problems with it? I am not sure what the objection would be. (Not being snarky, just honestly didn't see any drawback)

[mom2aidan]

I got one done with my 2nd pregnancy(I was 35 thus considered a high-risk pregnancy) and I think it's the best test ever. If you're around a certain number, then they will recommend an amnio but otherwise, it is supposed to be accurate.

QUOTE=Edensmum]It seems the Quad screen has been replaced with a new test a blood test around nine weeks in combo with a detailed nuchal fold u/s. The dr said it's pretty new and couldn't give me rates for false positives which it the big reason I declined that quad screen last time.
Anyone know anything about these tests? Would you?[/QUOTE]

[o_mom]

When I looked into it two years ago, I found that it was not much more accurate than the Quad screen for younger women (I think < 35). For older women it increased the accuracy significantly.

Here is the thread from around that time, when the numbers were fresher in my mind - I got them from an article in a major journal that looked at many different studies to come up with the accuracy and false positive rates for many different groups: http://www.windsorpeak.com/vbulletin/showthread.php?t=239975

[alirebco]

I opted to do it when I was pregnant because it is more accurate than the quad screen. Because of my age, I didn't have to do the bloodwork with it but my sister did. I would definitely recommend it if your insurance pays for it.

[Edensmum]

I did it with my girls about three years ago. I didn't have any problems with it? I am not sure what the objection would be. (Not being snarky, just honestly didn't see any drawback)


The objection for me and why I did not do the Quad last time is that it doesn't give you real info it gives you your risk rate and has a very high rate of having false high risks. So what do you do with this info? You can live with the worry and wonder or have a CVS or amnio to get more accurate both which carry the risk of miscarriage. All to what end? To potentially harm a healthy pregnancy. It basically comes down to this. Are you willing to do the amnio or CVS? If you do are you find something wrong would you terminate? I don't believe I would do anything these things so what is the point of the test and the increased anxiety? Aything I need to know about that would affect the delivery would be picked up in the twenty week u/s.

[kijip]

I did this comprehensive screening and rather than generating a positive or a negative it generates a risk factor/ratio. Like 1 in 20,000 or 1 in 20. I suppose some come back with higher risk factors that unnecessarily scare you but I think it is a more accurate picture than positive/negative like the old triple/quad screens. Mine was an u/s and blood work followed by a second u/s a couple of seeks later.

OTOH, ALL of my numbers came back the equivalent of one in a snowball's chance in hell (lowest the doctor and midwife say they ever see) and I was still a little like , hummm what if I am that ONE. :)

[pb&j]

It has been in use in Europe and the UK since the early/mid-90's, and in the US for ten years. It is not a new test at all, but one that has only caught on in the US in the past five years.

When the u/s is combined w/bloodwork, and visualization of the nasal bone, there's a detection rate of 90% and false positive of 2.5%, according to the Fetal Medicine Foundation. This rate is lower than the false positive rate on the quad screen of about 7%.

[CAM7]

The objection for me and why I did not do the Quad last time is that it doesn't give you real info it gives you your risk rate and has a very high rate of having false high risks. So what do you do with this info? You can live with the worry and wonder or have a CVS or amnio to get more accurate both which carry the risk of miscarriage. All to what end? To potentially harm a healthy pregnancy. It basically comes down to this. Are you willing to do the amnio or CVS? If you do are you find something wrong would you terminate? I don't believe I would do anything these things so what is the point of the test and the increased anxiety? Aything I need to know about that would affect the delivery would be picked up in the twenty week u/s.

Exactly.

We opted out of all the screenings and tests (had a few ultrasounds though). I was tired of the way they had us worry about all these different conditions just because of our age.

It does come down to the issue of whether you'd want to terminate if a condition was found. And then, would you trust the results of certain tests if they came up positive?

Seemed like too much extra worry for us... we opted out.

[SnuggleBuggles]

The objection for me and why I did not do the Quad last time is that it doesn't give you real info it gives you your risk rate and has a very high rate of having false high risks. So what do you do with this info? You can live with the worry and wonder or have a CVS or amnio to get more accurate both which carry the risk of miscarriage. All to what end? To potentially harm a healthy pregnancy. It basically comes down to this. Are you willing to do the amnio or CVS? If you do are you find something wrong would you terminate? I don't believe I would do anything these things so what is the point of the test and the increased anxiety? Aything I need to know about that would affect the delivery would be picked up in the twenty week u/s.

My feelings too. I opted to skip all of those tests and just have the 20w u/s.

Beth

[o_mom]

It does come down to the issue of whether you'd want to terminate if a condition was found.

I think it is a bit of a stretch to say that the only reason someone would have these tests is to terminate. There are many other reasons that people may choose them which do not involve termination.

[bubbaray]

I opted not to do the quad screen with either PGy because I knew I wanted amnios.

If you want an amnio (or CVS), I'm not sure I see the point of the quad screen. Its not definitive, whereas amnio is (for the things they test for).

[kellij]

"It does come down to the issue of whether you'd want to terminate if a condition was found. And then, would you trust the results of certain tests if they came up positive?" (THIS IS A QUOTE FROM CAM7)

I did the other test that they have that has more false positives with my pregnancies because if they did find a potential problem I wanted to educate myself. I did that test because I wasn't offered the one you are being offered. (But I'm really into education and research). I felt like I would want to fully understand everything, rather than have a baby, find out it has a problem and try to educate/research with a newborn baby waking me up every two hours. Also, if there was anything that would require immediate surgery, I'd like to figure that out in advance too, to the extent possible and have the specialists on hand. That was a much different reason than termination.

I'm really just responding to the sentence I quoted from CAM7.

Edited for clarification.

[egoldber]

don't believe I would do anything these things so what is the point of the test and the increased anxiety? Aything I need to know about that would affect the delivery would be picked up in the twenty week u/s

My info may be slightly out of date, but I believe the detection rate of Down's is only about 60% with a standard 20 week ultrasound. And much depends on the skill of the tech.

Also, termination is not the only reason to know in advance of a birth defect. It may change where you plan to deliver (a small community hospital vs at one with a better NICU or a major Children's Hospital close by). Many people (like myself :) ) are compulsive researchers. If I were planning to have a baby with a known issue, I would want to have at my fingertips before delivery 1) the phone # of an LC specializing in infants with issues, 2) the names and numbers and have attended support groups in advance, 3) have read all I could about the early months, 4) perhaps changed peds to a better suitable one.....

Also, typically when one has a child born with special needs, there is a mourning period. You mourn the child you thought you were going to have. This does NOT mean you do not love your child, but there is a process. Personally, I would want to do as much of that prior to the birth as possible.

So I can think of a whole host of reasons why someone would choose to know as much as they can in advance of the birth.

[ThreeofUs]

Well, it's not really new, as Ry said. It's been around for a while and has very good reliability for checking fetal development as well as early determination of a wide array of possible fetal/maternal problems - not just Down Syndrome.

Around here it's called the "First Check" and is the first ultrasound a mom-to-be receives for the major university practices. I didn't know anything about it, frankly, until I had it earlier this year.

I liked the full look it gave me of the baby and his growth environment, including how my cervix, placenta, and the cord were situated.

[Edensmum]

I think it is a bit of a stretch to say that the only reason someone would have these tests is to terminate. There are many other reasons that people may choose them which do not involve termination.

The reason to do the test is to get the result. What you do with that if there is an issue is prepare for baby with disabilities or terminate. Those are the two basic choices. That's not a stretch. It's exactly the way it was presented to me by the health care providers both today an in my last pregnancy. It comes down to what would you do if there is an issue. If you would do nothing then you have to decide if you want to know, now, though risky tests.

[baileygirl]

I did this test when I was pg with my son (21 months) and opted to have it again this pregnancy. It seems to be more popular in certain parts of the country...or at least most people I know locally have had it done, but friends in other states haven't had it done or haven't heard of it (so that is my unscientific evidence!).

[Edensmum]

"It does come down to the issue of whether you'd want to terminate if a condition was found. And then, would you trust the results of certain tests if they came up positive?"

I did the other test that they have that has more false positives with my pregnancies because if they did find a potential problem I wanted to educate myself. (But I'm really into education and research). I felt like I would want to fully understand everything, rather than have a baby, find out it has a problem and try to educate/research with a newborn baby waking me up every two hours. Also, if there was anything that would require immediate surgery, I'd like to figure that out in advance too, to the extent possible and have the specialists on hand. That was a much different reason than termination.

I wasn't saying the test is to terminate but to decide what you would do. The level 2 u/s would pick up the things affecting the delivery or requiring immediate surgery. This seemed more likely to give better results and less likley to give false positives. I can see wanting to know, and to prepare. I just don't think I would want to. I know quite a bit about the disabilities these look for so the research wouldn't be much of a concern as it is for nearly everything else parenting related lol. I woudl not consent to an amnio or cvs so I would not have a real answer anyway.

[egoldber]

The NTS is non-invasive and carries no risk.

It was not available when I was pregnant with Sarah. I declined it when I was pregnant with Leah (my first 35+ pregnancy). When I was pregnant with Amy I had it. My plan was to have the NTS and a Level 2 ultrasound, which together have an extremely high predictive power. If I had come back with high odds for a defect, I would have had an amnio, but having had a prior uterine rupture, I had no desire to go sticking a needle in my uterus if I didn't have to.

My OB actually also had me do a quad screen because the NTS does not look for neural tube defects (like spina bifida). Also, an abnormal quad screen can be an indicator for other later term pregnancy complications.

[Edensmum]

Well, it's not really new, as Ry said. It's been around for a while and has very good reliability for checking fetal development as well as early determination of a wide array of possible fetal/maternal problems - not just Down Syndrome.

Around here it's called the "First Check" and is the first ultrasound a mom-to-be receives for the major university practices. I didn't know anything about it, frankly, until I had it earlier this year.

I liked the full look it gave me of the baby and his growth environment, including how my cervix, placenta, and the cord were situated.

See this is not what we are being offered. We have an early u/s anyway but this has to be done be a specially trained tech and is only to look at the nuchal fold area.

[o_mom]

The reason to do the test is to get the result. What you do with that if there is an issue is prepare for baby with disabilities or terminate. Those are the two basic choices. That's not a stretch. It's exactly the way it was presented to me by the health care providers both today an in my last pregnancy. It comes down to what would you do if there is an issue. If you would do nothing then you have to decide if you want to know, now, though risky tests.

Preparing for a baby with disabilities is not 'doing nothing'.

If you read the other thread I linked to earlier, I laid out many situations where it is more than just a matter of knowing early. The NT test and Quad Screen are minimal risk. Amnio and CVS are not the only other tests that can be done - Fetal EKG, 3D u/s etc. are all minimal risk tests that can clarify to some extent what needs to be dealt with at birth. Some of these may or may not be picked up at the 20w ultrasound.

Perhaps for your specific situation, that was what it came down to - maybe you were delivering at the best hospital possible for any possible problem, or you already knew how to deal with those problem. Not everyone has that, though. Even for me, living in a large metro area with access to many specialists, it most likely would affect my choice of hospital. The one where I have delivered most likely would not be my first choice for a special needs child - they have a great NICU, but there are other hospitals with a better choice of pediatic specialists. I, for one, would like to make that choice ahead of time if possible and not in a postpartum haze.

I don't have a problem with someone declining it, but I do feel that it is much more complex than just to terminate or not.

[bubbaray]

The PP might still be talking about the same NF test though -- here, it is done by specially trained techs and perinatologists and does include looking at other "items" as was the PPs experience. But, the NF test is a specific measurement of a fold at the back of the neck. Some peri's do other measurements at the same time, others don't.

The NF test is as non-invasive as any other pre-natal ultrasound.

[Edensmum]

Preparing for a baby with disabilities is not 'doing nothing'.

If you read the other thread I linked to earlier, I laid out many situations where it is more than just a matter of knowing early. The NT test and Quad Screen are minimal risk. Amnio and CVS are not the only other tests that can be done - Fetal EKG, 3D u/s etc. are all minimal risk tests that can clarify to some extent what needs to be dealt with at birth. Some of these may or may not be picked up at the 20w ultrasound.

Perhaps for your specific situation, that was what it came down to - maybe you were delivering at the best hospital possible for any possible problem, or you already knew how to deal with those problem. Not everyone has that, though. Even for me, living in a large metro area with access to many specialists, it most likely would affect my choice of hospital. The one where I have delivered most likely would not be my first choice for a special needs child - they have a great NICU, but there are other hospitals with a better choice of pediatic specialists. I, for one, would like to make that choice ahead of time if possible and not in a postpartum haze.

I don't have a problem with someone declining it, but I do feel that it is much more complex than just to terminate or not.

I wasn't referring to preparing as nothing. I was referring to not doing further riskier tests. If it came back as high risk for me, I would then be faced with the decision to do nothing, knowing something might be wrong or confirm it with tests that carry a miscarriage risk. If I would do nothing beyond this what is the benefit to adding this stress? Knowing that stress can cause harm.

[egoldber]

If it came back as high risk for me, I would then be faced with the decision to do nothing, knowing something might be wrong or confirm it with tests that carry a miscarriage risk.

But those are not the only options. There are other non-invasive things that can be done to assess a potential issue besides amnio and CVS.

[o_mom]

I wasn't referring to preparing as nothing. I was referring to not doing further riskier tests. If it came back as high risk for me, I would then be faced with the decision to do nothing, knowing something might be wrong or confirm it with tests that carry a miscarriage risk. If I would do nothing beyond this what is the benefit to adding this stress? Knowing that stress can cause harm.

I guess my point is that there are things that can be done that are not risky to the pregnancy that can clarify the probability of those defects. For some people it may change drastically their plans for birth and not all of the time is the 20w u/s sufficient to catch them. It really depends on individual circumstances and I would guess that most of the people here who have done the tests did not do them in order to terminate.

It it absolutely something that can cause stress and I agree that some women may not want to do it because of that.

ETA: The benefits, again, would depend on your specific situation. For me - being able to have additional non-invasive testing and if that showed a high risk, being able to choose appropriate doctors that I felt were best would be huge. Not just getting whoever was on call that day, etc. Depending on the exact nature of the problem, I might choose differently who would be present at the birth and the care plans for my other children. I know that there is no certainty and that we might have to do all those things anyway even if the test was negative, but if I could get a jump on it, I certainly would.

[megs4413]

But those are not the only options. There are other non-invasive things that can be done to assess a potential issue besides amnio and CVS.

the only other option I know of (and i of course don't know much) is monitoring via u/s. is there something else out there beyond that that i'm not aware of?

my personal opinion is that if you KNOW you won't go through an amnio or CVS, then it's a waste to do the screenings because all they can do is worry you. (or make you feel more at ease, i guess...)

i think most problems are detectable via comprehensive level II u/s, giving families time to prepare for possible outcomes or to decide on further testing if need be. both my kids were discovered to have issues in utero via level II u/s (DD had swelling on her brain, DS had a cleft) and we were offered amnios both times, which we obviously declined. the risk of miscarriage with the amnio was too high for my comfort level. the truth of the matter is, i wish i hadn't known. either time. it was not helpful. some of you probably remember me preparing for DS. the truth is, it didn't help. i wish i hadn't known. it was a black cloud that hung over my head every day for 18 weeks. with DD it was basically the same (except with her, there was NO issue at birth).

this is just my personal experience, YMMV.

[Radosti]

Like others have said... testing is important. The first thought that came to mind... if the baby has Spina Bifida, it's the difference whether he/she will walk with no issues or be on crutches for the rest of their lives... A c-section would prevent damage to the exposed spinal cord. Surgery will close the hole. So, testing is very important.

[bubbaray]

The NF test is not used for spina bifida, though. Not sure if the blood test gives a marker for SB. I know amnio does.

[C99]

It seems the Quad screen has been replaced with a new test a blood test around nine weeks in combo with a detailed nuchal fold u/s. The dr said it's pretty new and couldn't give me rates for false positives which it the big reason I declined that quad screen last time.
Anyone know anything about these tests? Would you?

I would and I did in my last 2 pregnancies.

[Gena]

i think most problems are detectable via comprehensive level II u/s, giving families time to prepare for possible outcomes or to decide on further testing if need be. both my kids were discovered to have issues in utero via level II u/s (DD had swelling on her brain, DS had a cleft) and we were offered amnios both times, which we obviously declined. the risk of miscarriage with the amnio was too high for my comfort level. the truth of the matter is, i wish i hadn't known. either time. it was not helpful. some of you probably remember me preparing for DS. the truth is, it didn't help. i wish i hadn't known. it was a black cloud that hung over my head every day for 18 weeks. with DD it was basically the same (except with her, there was NO issue at birth).

this is just my personal experience, YMMV.

I can relate to this. We had a somewhat similar experience. Early in pregancy we had an ultrasound for size and dating. We found out the baby had a cystic hygroma (fluid build-up behind the neck), which we were told could be an indicator of a condition that was "incompatible with life." We had to wait several weeks and do a series of level II ultrasound follow ups. I refused the amnio because I would not terminate even in the worst case scenario the doctors presented us with. Also I was not comfortable with the risk of miscarriage with amnio. The cystic hygroma resolved during the second trimester and DS was healthy at birth. But the whole experience really sucked the joy out of the pregnancy for us.

There is also the fact that prenatal testing cannot prepare you for everything. DS was diagnosed with autism a week after his 3rd birthday. There is no prenatal test for that or many other disorders.

[kellij]

I wasn't saying the test is to terminate but to decide what you would do. The level 2 u/s would pick up the things affecting the delivery or requiring immediate surgery. This seemed more likely to give better results and less likley to give false positives. I can see wanting to know, and to prepare. I just don't think I would want to. I know quite a bit about the disabilities these look for so the research wouldn't be much of a concern as it is for nearly everything else parenting related lol. I woudl not consent to an amnio or cvs so I would not have a real answer anyway.

Eeek!! I wasn't trying to comment on you asking about the test. I'm unfamiliar with the stats on the test you are asking about. I'm sorry it sounded that way. I edited for clarification. I just wanted to point out that there are reasons to do the test other than termination. In contrast to what the people say, who say you should only take it if you're going to terminate with certain results.

[JBaxter]

I had one done with this pregnancy. My OB knew up front I would NOT do a cvs or amnio but it did give me a heads up on any possibility of an issue. My came back Very Very good so Im not worried at 41. My ob did also mention it has eliminated the need for many cvs & amino with a very good reading alot of moms are happy with the knowledge and choose not to more tests

[caheinz]

I did it this time. The ultrasound it comes with is how we found out we were expecting two!

Someone else posted rates -- I didn't remember the numbers, but did recall that they were much better than any other test, particular one so early (I think it's 12-14 wks, not 9). And, it's non-invasive.

I got back new odds for trisomies (Downs + 2 more) that were improvements over the age-based ones for me (I am over 35).

And keep in mind that termination is by no means the only outcome of getting a "positive" result. Preparation -- mentally for you and your family, but also medically -- can make a huge difference. Especially if you're in an area where not all hospitals have a neonatalologist! (In which case you could be recovering in one hospital, while your newborn is taken to a different hospital with more neonatal resources... far from an ideal situation if you ask me!)

[CAM7]

But the whole experience really sucked the joy out of the pregnancy for us.


This is exactly how I felt with the 'hovering' they do if you are over a certain age if pregnant. All the pushing they did for prenatal tests while I was pg was really tiring.

And for the PP's... I never implied that a positive outcome for a disorder would mean a definite termination.

[annasmom]

I have taken it with my last 2 pregnancies.

It is a screening test, just like the quad, so you might want to consider if that is going to concern or bother you. It won't give you a "yes" or "no."

For me, I like early testing, but it is not for everyone.

Good luck with whatever you decide.

[o_mom]

the only other option I know of (and i of course don't know much) is monitoring via u/s. is there something else out there beyond that that i'm not aware of?



I was told that if it were to come back high risk, we could opt for a more in depth u/s instead of the 20 wk. The 20 wk u/s does catch many things, but not all. 3D u/s for example is not routine here. A fetal echocardiogram is also not standard. There are increased risks for pre-term labor and in the case of some disorders, stillbirth. Both of those things may indicate extra monitoring via NST, etc.

The addition of the NT or Quad screen can increase the number of cases determined prenatally. While it does also increase the false positive rate, for many people it is worth it. Preparation, both mentally and mediacally can make a huge difference for some people.

[KBecks]

I skipped it, I talked to a genetics counselor and I wasn't opposed to the test, but I knew I wouldn't have an amnio anyway..... and she said if you wouldn't have the amnio, then it doesn't make sense to do the nuchal test.... so we skipped it all and just did the ultrasounds.....

My anatomical ultrasound showed something with calcification in the baby's heart, which could be an indicator for a chromosomal defect, but that's the only indicator that they saw. My "odds" are still like 1 in 100 or something like that.

Usually I'm a person who likes to know everything in advance, but I didn't want to have an early amnio. So we'll wait and see at the next ultrasound and birth if there is any concern. One of my best friends has a child with Down Syndrome and I'm sure I can start learning what I need to and have good support if I end up needing it.

What you choose is up to your need to know or lack of need to know.

Oh, I also have scheduled c/s anyway due to prior myomectomy surgery, so the issue of birth method isn't valid for me. I think that may be more useful for most women who deliver vaginally.

[egoldber]

I also have scheduled c/s anyway due to prior myomectomy surgery

But depending on the condition, you may choose to deliver at a different hospital. If the hospital does not have a NICU of an appropriate level, your baby may be transferred and you might have to stay behind. This would be a concern for me.

[Radosti]

Sorry, I meant prenatal testing is important overall and is not just for terminating pregnancies.

[catpagmo]

I haven't read all the responses, but I just wanted to chime in and say...I had this test done recently, and the ultrasound tech was able to tell us the gender of the baby at 13 weeks. An unexpected surprise, as we were not aware they could do that so early. Just food for thought!

[maestramommy]

I believe I had the nuchal fold u/s the second time around. It was the 2nd u/s with the nurse practitioner. Would you believe, they never told me "this is the nuchal fold u/s?" I was reading about it a lot here so I was wondering when they were going to schedule it. The nurse told me she had just looked at it, she pointed to where it was, and assured me everything was normal. I guess they don't make a big deal out of it at that office.

I don't know what the rates of false positive are.

[Elilly]

My quad marker put Graham at a highly elevated risk of spina bifida at 17 weeks. So drastically so that there was a discussion about whether his skull was closed or not when looking at the data alone. Genetic counseling and several level II ultrasounds later, all was proclaimed "okay". Still, I did change my OB and the place that I was delivering etc to have a higher level NICU just in case. To me, we had a lot of warning signs and, like Beth said, there were increased risks for me later in the pg with the results of the quad screen. I was questioning whether or not to do a VBAC but once again, just in case, opted for the c/s. Graham does have several genetic abnormalities.... celiac disease, hereditary fructose intolerance, and autism. Maybe cumulatively these caused the abnormal markers in the quad screen? Who knows. But I had better peace of mind knowing that I was at a facility that was out of the way and less "pretty" but had a neonatologist on staff 24/7 etc.

[pb&j]

I believe I had the nuchal fold u/s the second time around. It was the 2nd u/s with the nurse practitioner. Would you believe, they never told me "this is the nuchal fold u/s?" I was reading about it a lot here so I was wondering when they were going to schedule it. The nurse told me she had just looked at it, she pointed to where it was, and assured me everything was normal. I guess they don't make a big deal out of it at that office.

I don't know what the rates of false positive are.

A lot of practices will take the measurement, and call it good if it's below a certain number, but they might not necessarily be certified to do the official test, have access to the software used to calculate relative risk, or do the bloodwork. So while they may have looked at it, it might not be the "official" first trimester screening.