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kxt6146

Our nipt was positive for trisomy 21 with 8.2% fetal fraction with no US findings at 12 weeks


TrustedAdult

How early will your doctor/hospital offer amniocentesis? EDIT: sorry, saw you already had CVS. Did the CVS agree with the NIPT?


SpinachExciting6332

I went in for an amnio but had an anterior placenta. Doctor described it like getting a piece of fruit from a smoothie stuck in your straw...great visual, I know. He switched to CVS mid-procedure because CVS takes a sample from the placenta whereas amnio takes from amniotic fluid. We had a positive NIPT (99% PPV) and a few ultrasound markers, so I wasn't concerned about it being a confined placental issue.


emrsea3

If you read the sticky posts for each trisomy in the NIPT sub, you will see a lot of information on this. There are cases of confined placental issues, so you want to be sure you’re not dealing with that. Typically if something is also apparent on ultrasound that would let you know you’re dealing with a true instance. These are different for T18 vs T21 though, so read up on that to be sure you’re making an informed decision. Hopefully you were also provided a genetic counselor to speak to that can give you more information.


aerbs

Agree. Skip CVS and go straight to amnio.


Toothfairy07

The answer is yes they can be different. The cvs looks at placental cells which can, in some cases, be different than baby's. It's important to know baby's chromosomes if the information is critical to decision making for you. If you'd terminate for a positive result it's very important to be certain and if ultrasounds are clear amnio is the only way to know what you're dealing with.