conflicting test results; confused

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. Notably, my high levels of inhibon A and HCG indicate that I am high risk for having a baby with DS. 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?

ilovetolaugh

Was the serum test the quad test? That is notorious for giving "false positives" .  Is there any chance that your OB will do another test?  The Materni21 test is very accurate and will give you a definite answer.

How about an u/s that can check for soft markers for DS before an amnio? I'd go as non-invasive as possible first.

I had a quad test (serum) that came back with very high chances of down syndrome and was easily proven wrong.

luvboston

Have you had an anatomy scan to check for ds markers I would do that first then have an amnio if there are markers.

WeeGee619

Get the maternit21 test, it's a blood test. It gives you positive or negate results...no odds either yes or no

HFrizzle

What does your doctor say about the results?

*Edited* just realized I posted in the HR board. I'm mobile and meant to hit the 3rd tri board.

PipSqueak0313

WeeGee619 said:

Get the maternit21 test, it's a blood test. It gives you positive or negate results...no odds either yes or no

This is the test I did almost a year ago now. It tests babys dna that is in moms blood so very accurate, and non invasive....also can tell gender if interested. Is how I knew at 13 weeks I was having a boy with down syndrome.

kellyc319

Hi,

I am going through the exact same thing right now (a year after you).  I am 16 weeks now and just got my 1sa/100 positive just of DS with the second trimester screening AFTER i had already done an NIPT (with Panaroma) in my first trimester that gave me a negative (1/10,000).  

I'm also very confused and conflicted if i should go with the an amnio (knowing there are risks) or just trust the NIPT?

Did you end up getting an amnio and did your baby turn our with DS afterall?

I also live in San Francisco.

Thanks,

Kelly