conflicting test results

NBBride05

I did the first tri screening and it came back 1/32. So I did the Harmony Test...it was 1/10,000 for downs. My MFM still wanted me to do second tri for Spina bifeda. That result says 1/7 for downs. So I am very confused. The harmony is supposed to detect 99 of trisomies so I am inclined to trust that over the quad screening. But I wanted to know if anyone else had similar stories and what you doctor said.

dhreczuck

I just went to a genetic counselor last week to ask about the Harmony and I was told the Harmony is 99% accurate at detecting downs, so I would think you can trust the 1/10,000, however she also told me that the harmony is only about 90% accurate for trismony 13 & 18, it doesn't test for any other chromosomal issues.

I had a false + on the the quad screening once, though they weren't specific what the + was for. My Dr. at the time said false + do happen on the quad and they'll usually repeat the  test to verify. Did your MFM provide any clarity for you on the results? They certainly sound very contradictory.

danuli8

I would trust the Harmony over the first tri/second tri screens, but it is puzzling that the results are so very different. Still, if it were me, I do not think I would do an amnio--I would take the Harmony result and run with it.

JuliaJAG

I would trust the Harmony result as well. With my last pregnancy, the Harmony wasn't available so I did the regular first tri screening and came back as high risk for Down's (1/88). As it turned out, that result was skewed because of a very low PAPP-A score. PAPP-A can be low for completely different reasons, such as a high risk for premature birth, pre-eclampsia, etc. Well, I did end up getting pre-eclampsia and having a preemie... my baby had perfect chromosomes. Since the traditional screenings can be skewed because of so many other (non-chromosome-related) factors, and the Harmony has 99% accuracy for the three trisomies it checks for, I decided to skip the traditional screenings this time and just go with the Harmony. 

BTW, just curious, what was your baby's NT thickness and could you see a nasal bone?

NBBride05

JuliaJAG:

BTW, just curious, what was your baby's NT thickness and could you see a nasal bone?

NT was very normal at 1.62 and MFM never commented on the nasal bone.

NBBride05

Spoke with my geneticist and she is not worried about the Trisomies. She is having me come in today for an extra u/s to rule out some other things (but I have no idea what those are). 

JuliaJAG

NBBride05:

Spoke with my geneticist and she is not worried about the Trisomies. She is having me come in today for an extra u/s to rule out some other things (but I have no idea what those are). 

That's good. Between the excellent NT measurement and the Harmony, I agree, you don't need to worry about trisomies. She's probably going to make sure baby's growth is on track and placenta looks good. Let us know how the extra u/s went!