NT Results

[Anonymous]

I am 32 and just got my nuchal translucency test results - 1/450 for Downs. The geneticist said this was "good news," and that if my risk had been higher than 1/300 they would have recommended additional testing (CVS or amnio). My OBGYN said that "they would have preferred to have seen something closer to 1/10k," and that "it's up to me and my husband whether that's a level of risk we can live with." Now I'm on the fence about whether to do further testing -- I realize that the results mean I have less than a 0.025% chance of having a baby with Downs syndrome (i.e., over 99.75% chance of a healthy baby), but my husband and I are pretty sure we'd want to terminate if we did in fact have a DS baby. Thoughts? Am I more or less in the clear and just freaking out, or would it be worthwhile to risk miscarriage to get CVS or amnio? Thanks.

[Anonymous]

For both of my pregnancies, one at 28 and one at 30, my numbers came back at 1/10,000. Maybe you should call and make an appointment with another genetic counselor just to discuss the results, options. I saw a great one at Georgetown. I don't remember her name but I think if you just call and explain what's going on, they will know how to put you in touch with. Also, Pinckert, Gallagher and Matia have genetic counselors that are supposed to be good. Good luck.

[Anonymous]

Follow up with the geneticist. They tend to be much closer to this stuff than the OBs. I would call and discuss your concerns or get an appointment to do that.

Ultimately you have to decide how comfortable you are playing the odds. I had two pregnancies post-35 and would have terminated if we had bad news. The first time my numbers were so astronomically good I decided to forego the CVS or amnio. I went into the test to use it as a tool to decide between the amnio and CVS and ended up having neither. The second time around my numbers were also very good. The geneticist did not want to do an amnio or CVS because my first baby had been a preemie due to PROM (waters breaking early for no apparent reason). We did other things, such as additional ultrasounds and bloodwork, to get me comfortable without the test. So I have never had an amnio or CVS, but have two very healthy children. It's kind of a high-stakes game, but you have to decide what odds you are comfortable playing.

Good luck to you whatever you decide!

[Anonymous]

If you would regret havinig had the baby if he/she turns out to have Downs, then definitely follow up with geneticist and possibly further testing.

I'm 41 and my NT results came back at 1 in 5K.

[Anonymous]

I would consult a geneticist if you would terminate pregnancy. That being said, some of the more invasive tests could terminate the preg for you...

[Anonymous]

Jill Fonda at Pinckert's office is a fabulous genetics counselor. If you are sure or even pretty sure you would terminate I agree w/other PPs that you should seek more info.

I believe the risk of m/c from amnio or cvs w/an experienced practitioner (and guided by ultrasound, which is how they all do it now) is less than 1/450. Some of the other stats are based on dated technology. Good luck.

[Anonymous]

Anonymous wrote:I would consult a geneticist if you would terminate pregnancy. That being said, some of the more invasive tests could terminate the preg for you...

It would be *extremely* unlikely that a CVS or amnio would cause miscarriage when done by an experienced doctor. Our doctor has never (knock wood) had that happen in thousands of procedures, for example. Agree with PP that the stats that say 1/300-500 are mostly outdated if you are talking about ultrasound-guided and with an experienced doctor.

[Anonymous]

Anonymous wrote:Jill Fonda at Pinckert's office is a fabulous genetics counselor. If you are sure or even pretty sure you would terminate I agree w/other PPs that you should seek more info.

OP here. I think Jill is who I spoke to originally (Dr. Pinckert's office is where I had the NT test done) -- she put me at ease (enough so that we started telling people I was pregnant), but then talking to my OBGYN changed that. My husband and I are going to give her a call tomorrow.

Thanks everyone for the input!

[Anonymous]

I had a strange issue with the bloodwork on my NT that made my results less favorable than the measurement would have indicated. My baby was fine. I think that you need to talk to the Dr. who did the U/S and ask in detail about what they say. That being said 1/450 is a pretty high percentage from someone of your age so you may want to do the CVS for piece of mind.

[Anonymous]

I'm 40 and had good NT results (1/1500 for downs; 1/3000 for trisomies) - I opted not to do the amnio or CVS even though I'd done one with my first child and fully expected to do one with #2. Personally I had hoped for something so dramatic & spectacular - like the 1 in 10,000 that your OB mentioned - but the genetics counselor at Dr. Pinckert's office helped me to understand that my results were in fact pretty reassuring. That said, my gut reaction was also influenced by the fact that I had a m/c inbetween my two pregnancies, and by the fact that my OB was mildly discouraging of doing any further testing.

I second the advice to go back to the genetics counselor - I thought she was fantastic, helpful in thinking through what next step made the most sense for you personally, and since she deals with this specific question countless times a day, she can offer the best informed perspective. But ultimately the decision is yours, about what risks you want to handle and how you would handle a negative outcome with either decision (and despite the great stats of many experienced practitioners with amnio and CVS, these procedures are never without any risks themselves.) Good luck.

[Anonymous]

I agree with the poster that said that your result is pretty high for your age. If I were you, I would do further testing. I would rather due an amnio than CVS b/c the risk of m/c is lower with an amnio and the amnio also tests for neural tube defects which CVS does not. The risk of m/c when doing an amnio is about the same thing as your 1/450 Down Syndrome result so I would do it if I were you.

[Anonymous]

I'm 36 and had somewhat similar results to the OP as a result of my NT scan and blood work done at 12 weeks. I followed that up a second blood draw at 16 weeks - part of the modified sequential screening that they did for me at Maryland Perinatal - because I knew that would give us even more nformation -if the second blood test made the odds worse, I'd have done the amnio. If it came back better, I would opt not to do so.

As it turned out, the second blood test came back with odds I felt much more comfortable with - something like 1 in 10,000. The genetic counselor I worked with said that the results from the NT and first blood draw at 12 weeks may have come back with the high odds because of my particular blood chemistry, and that they can usually tell more from blood work at 16 weeks anyway because they test for something like four proteins that are markes of Downs. You might want to inquire about this second blood test.

As I said, I was prepared to do the amnio if, after getting the second blood work at 16 weeks, the odds continued to look unpromising. I really didn't want to do the amnio, however, and was so relieved to get the results from the modified sequential screening. I should add that I am around 27 weeks now, so ultimately, I don't know the final outcome from my decision making at 16 weeks.

Hang in there, OP! It's a super tough decision and we can empathize with you.

[Anonymous]

I think you need to take with a grain of salt the suggestion that your results came back "high" for your age. You didn't score the lottery with your number, but you're still considered a screen negative, right? Everything is relative, and the perspective of a poster who was lucky enough to have ridiculously low odds will definitely perceive your number as high - but the medical community or, if you're being cynical, the insurance companies, have made a determination that your risk is "low". The decision to do additional testing is ridiculously personal, and because not even a geneticist can offer you a guarantee that your baby is fine, at the end of the day it will still fall on you to make the decision. My number for DS was something like 1:690 (I'm 34) and I struggled with the amnio decision, and even now as I approach delivery I wonder if I made the right choice by opting out of an amnio. That said, as I approached the later stages of my pregnancy it became very clear to me that other issues (blood pressure, incomp. cervix, etc.), all of which put me at risk for premature delivery, were the things I really need to be concerned about. Because, of course, an amnio can test for certain genetic disorders, but there's a lot it can't test for and it certainly can't predict non-genetic factors that may affect the outcome of your pregnancy. Good luck with whatever decision you make and know that many of us agonize over this decision (stupid tests - and they keep coming!).

[Anonymous]

Argh, these are such difficult situations. OP, I am also 32, and our risk based solely on age is 1 in 320. So you're actually better than average for your age, if that helps.

That said, I agree that it's worth talking to a genetic counselor/geneticist. I would definitely not wait for the 16 week screen--then you're just farther along and it's more agonizing to deal with all of us, no matter what happens. Hang in there. I still think those are excellent odds.

[Anonymous]

It's such a personal decision to make, it's pretty hard for anyone to offer guidance. I am taking the opposite approach, I'm 35, no family risk, but clearly an age risk. I'm declining all the early tests because I wouldn't do amnio or CVS. If I were absolutely sure my child would be born with down's or another big problem, I'd probably terminate. But to me, the odds of that happening are still pretty low. While the amnio (more than CVS, frankly) procedure has still gotten much safer than it has been in the past, you still might want to break down your odds of a defect 1 in 350 vs. amnio. Your doctor or amnio provider should be able to provide you with the specific miscarriage rates associated with amnio / CVS that he or she has personally performed. My understanding is that it is different for every doctor -- an excellent doctor will have miscarriage rates lower than 1 in 800. But keep in mind that sometimes miscarriages that happen right after an amnio are called something else (not to be cynical, but the doctors say, well, the unique nature of that pregnancy was leading to miscarriage anyway, so the timing was coincidence and nothing more). But then you hear that mom was leaking amniotic fluid. I hope this doesn't scare you, I just want to point out all of the issues. Go into it with eyes open. It is a wrenching choice and I don't envy your position, but if I were you, I'd consider my odds to be lower than age alone odds and feel comforted by that. Hope this helps. Didn't mean to be scary about amnio. It is obviously much safer that it has been painted to be, but still with risks.