conflicting test results; overwhelmed

dglvrk2

I'm almost 18 weeks pregnant.  I had the non-invasive prenatal test (NIPT) in July.  It came up negative for chromosomal abnormalities it screens for, including Down Syndrome (trisomy 21). Specifically, my chances of having a baby with DS according to this test is 1/10,000.  I had a blood test at 16 weeks as part of serum integrated screening too.  It's free in CA (I live in San Francisco) and also screens for neural tube deficiencies.  I got the results earlier this week.  It's positive for Down Syndrome; noting my risk for having a baby with DS is 1/13.  I know both of these are screenings, not diagnostic tests and that the NIPT is apparently MUCH more reliable then the serum integrated screening. Nevertheless, it's confusing. Should I completely rely on the NIPT and assume my baby is free of the chromosomal abnormalities it screens for?  Or proceed with an amnio?   I really do want to know if I have a baby with DS; primarily to prepare for him/her as best as possible.  I'm just confused......my emotions change every few minutes.  Do I just trust the NIPT or proceed with an amnio?  Thoughts?  

RNmommyof2

The only way to know for certain is to get an amnio. I think if I were in  your shoes, that's what I would do.

LucyRicardo3

I would tend to go with the NIPT results. But it's easier to say that when I'm on this side of the thread.
From what I've been told by my dr's the false positive rates of the standard screening are far more frequent that incorrect NIPT results because the NIPT is reviewing the actual fetal DNA.
It would be a tough call. In my humble opinion, the minute risks of amnio outweigh my choice of going that route. I would, however, have to deliver at a different (more specialized) hospital a little further away, rather than my local small-town hospital so we would have access to whatever specialists might be needed at delivery.
Hugs and best wishes on your decision....

happywifemomofone

Hi-I also screened + for Down's.  We had a Level II u/s.  When there were no hard or soft markers for Down's, we decided NOT to proceed with the amnio.  Had there been markers for Down's, we would not have hesitated with the amnio, so that we could educate ourselves and assemble the very best medical team to deal with any issues that might arise.  GL!!, these decisions are hard!!

 

Guennie

Has your dr not suggested a level 2 ultrasound? I would opt for one before jumping to an amnio, especially since you screened negative with the more reliable test. I screened positive for Downs also and like happywife I had a level 2 ultrasound to check for markers. Everything looked perfect. If you feel you need further reassurance this is what I would ask for.

SurpriseAt39

I would definitely get your doctor's thoughts/opinions on this. 

As well, an ultrasound should be done. 

(My doc orders ultrasound and bloodwork at same time to get truer results for screening)

jeffrae

With dd1, we had 1/8 result for trisomy 18. We did level two u/s and no markers were found. We opted to not have the amino. With dd2, we skipped all screening based on our "false positive"