XPost-Asking for my SIL- Possible Down Syndrome dx

Good Morning everyone!

My SIL had a bunch of screening tests done and all came back with HIGH risks for DS. She stated that the baby's measurements at the NST appt were normal however they detected a hole in his heart.

So far they did the MaternT21, quad and a NIPT tests. Supposedly the NIPT test is a super sensitive test that can detect down syndrome. they gave them a 90% likelihood that the baby has downs. the only test left to do is the amnio and they are not doing that.

Is it possible to have normal measurements and still have a high likelihood for downs based on the all the blood work coming back with the dx?

TIA!

Re: XPost-Asking for my SIL- Possible Down Syndrome dx

MaterniT21 is a NIPT/NIPS and I believe it's supposed to be pretty accurate at giving the likelihood of genetic abnormalities, but they are not diagnostic. If a positive result, they often recommend invasive testing, like an ammnio or CVS. I know someone who tested positive from a NIPS, but had further testing, which was negative. Their baby was born healthy.

Re: XPost-Asking for my SIL- Possible Down Syndrome dx

XPost-Asking for my SIL- Possible Down Syndrome dx

My sister had more than a 90% chance after the NT and she had the CVS test done and it was fine.

IMO the tests that give you odds are way too inaccurate. I had an amnio because I did not want odds I wanted a yes or no. I have to say, I know they say its more invasive but it really wasn't. If she is considering an amnio i'd be happy to answer any questions. The anxiety of having the test is actually the worst part.

Message edited 12/15/2016 2:29:13 PM.

XPost-Asking for my SIL- Possible Down Syndrome dx

My cousin's wife came back with 1 in 5 chance and their son was fine.

Re: XPost-Asking for my SIL- Possible Down Syndrome dx

Yes, it is possible. These tests are just screeners, the nuchal measurements and even the NIPTs like the MaterniT21. The only accurate diagnosis is with an amnio or CVS.

They are going to wait until the birth to find out if their DC is affected? I hope everything turns out ok for them.

Re: XPost-Asking for my SIL- Possible Down Syndrome dx

GM!

They decided on not doing any diagnostic testing. They are going to wait until birth to confirm. My SIL states that the last blood screening test NIP was a highly sensitive test that came back positive for this dx. Im not sure anymore, Ive read that all of the screening tests has a hx of false positives. So we will cross our fingers and hope & pray for the best!

thank you all for your response!

Re: XPost-Asking for my SIL- Possible Down Syndrome dx

Re: XPost-Asking for my SIL- Possible Down Syndrome dx

The NIPT test is the best of the blood tests, as it tests DNA fragments, but it definitely does give some false positives and false negatives. I researched it some. As I understand it, sometimes in the case of a vanishing twin or mosiacism, which is two different DNA lines in one person, results can be invalid. One study I read found a Down syndrome false positive rate of 9%. So out of 100 people told the baby has DS, 91 actually had DS and 9 had unaffected babies.

I think cardiac problems are also associated with DS unfortunately. They will be looking for other signs on the sonograms like an absent nasal bone.

Will your SIL see a genetic counselor to have all this explained to her?

I had a false positive on the AFP test for spina bifida and refused an amnio too, so I can relate. I'm sorry you guys are dealing with this.

Re: XPost-Asking for my SIL- Possible Down Syndrome dx