Help please, NT positive for D/S?

[beth281]

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!

[adgal]

Hi there.  I've been where you are, and I understand how scary it is to hear that word positive.  N/T combined with blood work is not a diagnostic test.  The N/T simply looks for soft marker such as nuchal fold thickness, nasal bone, etc.  The bloodwork checks for the ratio between your free beta and papp A hormones.  The greater the ratio between the two numbers, the greater the odds of DS.   Neither test alone is a good indicator, (even lack of soft markers is not a sure thing) so they combine the two, along with your age, to give you your odds.  All this test is designed to do is to assist you in making the very personal decision as to whether or not you want to do a more invasive test such as amnio.

When I had my first trimester screen, my odds came back 1:13.  Like you, I had no soft markers and Nuchal fold was completely within normal range. The results were based primarily on the huge ratio between the two hormones in my bloodwork. (I was also 40, so that increases the number they give you as well)  After much consideration and conversation with my Dr. I did in fact opt for amnio.  It is a diagnostic test, and I needed to know for certain.  The risk associated with amnio is about 1:400 for complications, but I talked long and hard with the perinatologist and the clinic where the test would be performed.  Their rate of complications was almost nil, and I felt comfortable.  My son is now 2 and completely typical.  For me, having the amnio was a good idea as the stress associated with the unknown wasn't something I was dealing well with.  And truth be told, I would not have terminated had my son had DS, but there are a great many reasons to find out for certain.  I know many women who have had amnio to find out for sure and not terminated.  It is not true that that is the only reason to know.

Whether or not to do invasive testing is very personal.  Do not let anyone talk you into it.  This is your body and your baby, not theirs.  I am neither pro amnio nor against.  All I can say is that for me it was the right decision.  Whatever you decide, I wish you well.  I'm sure all is just fine.

[Heather3418]

I have to agree with all the other posts.  If it were me having those tests results, I would not risk having an amnio.  Your nucal measurement of 1.8, with 3 being the cut-off, you are well within limits for having a baby withOUT DS.

I know you are worried, but please trust in the nucal measurement as being the most trusted test.  You are not going to have a baby with DS.

These doctor's and their drive to want to do invasive tests that put the pregnancy at risk, disturbs me.  They should be telling you to rely on the nucal measurement as reassurance.  I'm sorry you are going through this.

I would get a second opinion before I would submit to an invasive testing.  Really I would.

Please take the advice of all the other mother's that have answered your post and feed confidant that your baby is just fine and healthy.  Relax little momma...everything IS really going to be just fine.

All the best to you and your family....

[Super_sally888]

Hi,

a 1 / 90 risk means that there is 89/90 that your baby is normal.  That sounds like a very very good odds to me.

There have been women here who've been given far worse odds, like 1/8 or higher and still had a baby without down syndrome.

The fact that the nucal fold was so good is also excellent.  In fact many doctors wouldn't look further if the nucal fold is well within the expected limits (and yours was).

I think the medical team may be worrying you for nothing.  

Further u/s would probably set your mind at rest.  

I think it is a shame that they do such testing and the rates of false positive is so high (and you didn't get a false positive!!  These tests are not diagnostic) and they make women worry so much when really the risk is comparatively so low.

Best wishes to you, your husband and your baby.

[beth281]

Thanks so much for your comments. I never liked the idea of having an amino. But now I feel I need to know if there is something wrong with my baby in order to be prepared (I'm against termination). My husband feels the same way. It is just that amnios are invasive and carry a risk. So first we'll  go for another ultrasound and blood test (I think it's called quad screen) and from there we'll see. At the beginning I was relieved when I heard my odds were 1:90, since I was told that my odds by age alone are 1:20. But both the genetic counselor and the midwife insist that I'm at an increased risk of having a baby with D/S. I want to relax and enjoy my pregnancy but it is not easy at this point.

[stacey10]

usually the markers are seen at the 18-20 wk morphology scan, so you still have a way to go for those, your choices are either cvs or amnio, which I'm sure your aware of, I tend to lean towards the blood count being the more correct out of the two, 1.8 is a really good measurement, your odds for your age are 1:30 so if you look at it that way, your doing better than whats the norm for your age, I know that doesnt help much, but the only way to find out 100% is to do the more intrusive tests, which carry a risk in themselves, and I really think it depends on what you would do.... if it doesnt matter to you if your baby has downs then I personally wouldnt do the other tests, but if for your own personal reasons it does and you couldnt continue with the pregnancy then you really have to have one of the other tests done

[vaubach]

Those odds are probably not all that different than your odds based on your age alone. At this stage you can easily have an amnio done which will give you a definitive diagnosis and not just odds like the screening does. I'm 38 and results from my screening were also considered positive at 1/100, but that's only 1%. There is still a 99% chance that baby has no issues at all. To me that sounds like pretty good odds.