Hi @Bibbidiboo,
I’m sorry you’re currently experiencing this situation.
At our 12 week scan, nothing was picked up on our scan and our combined screening results came back with the lowest result you could get.
We then went for our 20 week scan on Jan 27th (2 weeks late due to Covid) where the first sonographer found that our baby had a hypoplastic nasal bone and told us it is a marker for Down Syndrome but she couldn’t find any other soft markers which was apparently a positive. She referred us to the Fetal Medicine Unit at our hospital and thankfully they had an appointment that same day.
We had a scan with the Fetal Medicine Unit and their sonographer confirmed that our baby had either a hypoplastic nasal bone or no nasal bone at all, she couldn’t get a very clear view as baby kept moving away but she was happy to confirm what the other sonographer found. She also confirmed there were no other soft markers. They did tell us that they would be more concerned if the baby had other soft markers such as an issue with the heart or bowels however, the nasal bone on its own is still a big marker to them and that’s why they can’t rule out Down Syndrome. They then sat us in a small room and went through our options: carry on with the pregnancy and do nothing, have the harmony test or have the amniocentesis which carries a risk of miscarriage. We originally went for the harmony test but the next day I called them to request an amniocentesis instead as me and my partner agreed we needed to know for sure if our baby did or didn’t have Down Syndrome.
Our amniocentesis was done Feb 1st at Chelsea & Westminster hospital and we had our results by Feb 5th to say our baby came back negative for Down Syndrome. We was meant to have a follow up appointment with the Fetal Medicine Unit in late March to have a scan to check if the nasal bone had grown or if it was even present but they had cancelled our appointment without telling us so we didn’t find out anymore from the hospital unfortunately.
Our midwives suggested looking at family members as a small/flat nose could be in our genes. They also said it could be that we’re just having a petite baby and her nose is in perfect proportion for her. Unfortunately it was mostly guess work as they don’t really know much about it and my midwife said it’s picked up more and more because of studies that are taking place.
Our baby girl was born June 6th, perfectly healthy and with her small button nose. I’ve attached a photo of how her nose looks and it’s right what the midwife said, it’s in proportion for her as she’s only petite. The only thing we have been advised to do is keep an eye on her breathing and to have the doctor check her nose at her 6-8 week appointment, other than that, we don’t have to do anything.
Have they discussed what your options are for testing or are they waiting for your 20 week scan?
I’m sorry I couldn’t provide anymore information but hopefully our experience helps and I’m here if you need to talk.