Positive NIPT for Trisomy 21 but ultrasounds are not alarming, any hope that I'm the rare exception that got a false positive?
I am 41 years old. 6th child. (first surprise, all the others were planned) We have been given a positive NIPT for Trisomy 21 and as you can imagine, we are still processing the initial shock. Soft markers have been a choroid plexus cyst on the brain and a bright spot on the heart. Our OB was not alarmed by these findings, she said "I see these weekly and often times they resolve." Sadly, she was not in office on my appt day and her NP stressed to me to get a an NIPT test. OB called me the next day-mind you, she has delivered all of my children and knows me VERY well-and said "Your ultrasound doesn't worry me, now I'm hating that you have to sit in anxiety waiting on the test." Which of course my husband and I have been. Results came back as high probability. She is very surprised, as are we. Met with Maternal/Fetal specialist yesterday who saw nothing too alarming on the ultrasound, except perhaps small femur and humerus. We relayed to him this was not concerning to our OB because my children have very large heads (I typically have 9-10lb babies) and they are always disproportioned. He said it could not be alarming then but with that plus the positive NIPT we should prepare for a baby with DS. We declined the amnio. We will just wait until baby is born but of course the unknown is frightening. We are not telling our children or family. I am processing enough, I can't help them process too. We also don't want to highlight to our children this is a "bad" thing...they will accept any sibling, they are wondeful kids. I am looking for hope...they did mention placental mosaic...I'm just looking for ONE person to say "This is so similar to me and my baby did not have DS." We will welcome any child...but we are just processing so much. I know it's a teeny window but is there anyone who can share a similar story? I wish I had not done the NIPT. I would just be monitored for growth, as nothing is alarming except the smaller bones. Absolutely no heart defects, no echogenic bowel, nose bone fully formed. Their profile looks so normal that I am having a hard time accepting. I also would love stories of encouragement. We are very accepting of what this child will have, we are not considering termination (personal choice) but it's still the unknown that frightens me as I have 5 other children that I give most of my capacity to. I guess the glimmer of hope is the placental mosaic, the decent ultrasound findings which I know can not show DS, but lack of structual anomalies...the specialist said something along the lines of "Well, the good news is, I don't see your baby being severe and needing heart surgery at birth." But of course I'm thinking then maybe they don't have it? He also mentioned a lot of babies are miscarried in first trimester so another glimmer of hope?