Hi ladies, so haven't updated here about my scan. It's been a stressful couple of days.
Scan Wed afternoon was just with the sonographer and I didn't expect any information until my next appt which is next Wednesday, but midwife called less than an hour later after the radiologist had reviewed and called her. At first I was just happily surprised we were getting results so quick then realized if all was good they probably wouldn't have reviewed at 4pm and called right away. They referred us to maternal fetal medicine for a 2nd level ultrasound. They saw 3 things of concern, each of which independently they wouldn't worry much about but together they can be indicative of a genetic or chromosomal abnormality. We had choroid plexus cysts on the brain (which is basically just pockets of spinal fluid and doesn't affect development in any way), an echogenic foci in the heart, which doesn't affect function of the heart, and cleft lip.
They actually got us in the next day (yesterday) for the level 2 scan. Met with genetic counselor, had scan and met with high risk OB. Basically because we have these 3 things the is a higher likelihood of Downs, trisomy 18, trisomy 13 or other issues. Risk for downs came down to like 1/50. They also saw a slightly small chin which he said could be linked to DiGeorge which is a partial deletion of a chromosome. But in my research also seems to be seen in babies with cleft lip/palate.
We did do comprehensive screening on the embryos, which is pretty accurate, so because the brain and heart thing are also seen on healthy babies I'm not overly worried about severe disorders, but there is the possibility. Everything else looked good though, baby is measuring now 4 days ahead based on my transfer date so a good size (measured at 16 oz.). All other organs look good, so another reason I'm more confident that we'll just be dealing with the cleft lip and palate and possibly the small jaw/chin causing breathing and eating difficulties. We are declining any additional blood tests and amnio, it won't change the outcome for us and may just cause more worry.
Also, we found out we're having a girl! It's helping me process all the other stuff I think and connecting with her more. We already love her so much and my heart just hurts for what she may go through. My plan to exclusively breastfeed probably won't work out, so I'm glad to know that in advance. I just feel like some of my joy of being pregnant has been stolen away. I'm sure it'll come back, all this news is just so fresh.
