Has anyone received a false positive or false negative result from Unity BilliontoOne for down syndrome?
Early in my pregnancy, I received a low risk result for all the trisomy conditions (1/10,000 risk).
My daughter was born (June 8, 2026). Born at home at 37 weeks. Birth weight was 7 pounds. Head circumference was 34 cm. Apgar score was good. My care was managed by a midwife (CNM).
At the first visit, my pediatrician suspected my baby has down syndrome, and was confused that I received a low risk result from the NIPT. We got her tested at the Rare Disease Institute and should know the results this week or next.
She has the down syndrome look in her face (flat face, flat nasal bridge, tongue sticks out a lot, frontal bossing). She doesn't look like my other daughters. She has complete AVSD heart condition, which is strongly associated with down syndrome. But she does have good muscle tone. Sydney crease in the hands (not the single crease). Maybe a slight sandal gap? Ear positioning is normal.
On the 20 week ultrasound, she had a short radius, ulna, and femur bones. Described as slightly small for gestational age. The ultrasound tech asked if my husband was short. This should have been a red flag considering my husband and I are 5'8 and 5'11. Nothing else looked abnormal on the anatomy scan. The doctor who signed off said he didn't anticipate there being any problems.
However, they could never get a good view of the heart on any of the ultrasounds due to fetal positioning. We didn't know she had a heart condition until AFTER she was born, the pediatrician spotted a heart murmur and referred us to a cardiologist who diagnosed it. The cardiologist was surprised we got a low risk result for down syndrome.
I would love to hear anyone else's experience on this.