1-220 for Down, 31 years old ...

nanin

Hi!

Two weeks ago, my doctor just threw that our baby was "positive" for Down (no further explanation) ... We had a horrible week! I made my own research to find more information about the sequential screening and I felt relieved to find that is not a diagnostic test, instead it gives you probabilities. We had our II level ultrasound and genetic counseling on Thursday and I decided to go for the amnio, because I want to enjoy my pregnancy without doubts. The ultrasound was perfect and we found that we'll have our first baby girl (already have a big boy) ... Our fish result will be ready today, so pray for us ... 

Any of you had a similar experience with the sequential screening?

LucilleAustero

1) If your doctor told you that your baby was positive for DS, you need a new doctor.

2) Yes, I have been through this. With DD we opted not to get any of the screenings, but at our A/S, 5 soft markers were found. It is pretty unusual for a fetus to have five soft markers unless there is an issue. We had an amnio performed and the results were fine. We opted against getting the microarray, so we knew that there was still the possibility that something could be wrong, even with a perfect amnio result. DD was born with a few health issues, but they were unrelated to the soft markers and were all non-permanent.

Take a deep breath, I know this is scary, but the odds are really on your side.

nanin

Thanks for your support! 

Yes, the doctor barely said "positive" for down and nothing else ... After my own research, I decided to ask for a copy of my results and then I found my number was 1:220 (cutoff 270). He didn't even mention that my results seemed to be normal for Trisomy 18 and NTD, and just recommended the amnio and genetic counseling. All the information I have now, came from my own research and the geneticist (She was awesome, and I went to the session with 25 question already prepared for her and got an answer to all ...)

The good news is that I just got the FISH result and it was negative for Trisomy 21 (Down). We'll have a detailed report coming in two weeks, but so far the only concern was that. 

I'll take your advice and will look for a new OB. I don't think I can trust him pretty much from now on ... Thanks again for sharing such a kind words with me!

 

LucilleAustero

Congrats on the great FISH!!

Glad you are exploring new OBs.

poptart109

My last OB said the same- positive for downs (I was 24yo) and I should terminate the pregnancy. This was based off the AFP test which only shows ratios and mine was also 1:220. I told him absolutely not, got the level II u/s and found a different doctor. I can understand where you're coming from and am glad to hear a positive outcome. DS was born completely healthy and this time around opted out of the AFP.