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Nuchal Translucency, Cystic Hygroma, NIPT Blood Test

Medical Termination (my story)

This has been a roller coaster to say the least. We started off with inconclusive results (low fetal fraction) from an NIPT test at 9 weeks. The doctors said to me oh this happens often it’s most likely nothing the blood was probably drawn too early. So they drew blood a second time which came back as atypical results.. Which led to my first ultra sound, they brought me back to talk about what was found. My babies Nuchal Translucency space was 4.9 mm thick. They tried to be positive and Said to me this can happen sometimes it could go away on its own, but we want to send you to a high risk specialist. I cried at that appointment with this news. I was still hoping for the best. We then go to the high risk specialist so they could get a better look. Come to find out the baby has septated cystic hygroma down the length of the spine. The doctor was very clear that this was not a good prognosis and that the outcome could be really bad. My husband and I started looking up stories and going down a rabbit hole of what could happen to the baby and what could happen to me. I was told I was at risk for miscarriage my whole pregnancy. This was very scary to me. I couldn’t risk my life even if it a was low. My daughter and husband need me. Anyways, We decided to try and figure out why our NIPT results came back as atypical. We still had hopes that the karyotype would come back normal with the atypical results. We had a CVS to do a FISH and karyotype test confirming trisomy 21. With all the testing completed and the cystic hygroma prognosis. We made the most difficult decision to terminate.

This story is not to sway people to terminate. It’s just my story. It’s what we thought was best for our baby and family.

If anyone has any questions feel free to ask.