We just had our 2 month doctor appt (a few weeks late) and our ped wants us to take DD in for testing for DS. I know she is overly cautious, but the genetic specialist won't be able to get us in for several weeks and we're driving ourselves crazy. Just wondering if there are any experts on here that could give me some advice. It kills me that we have to wait so long to find out when I could be using that time to research.
DD was born at 39+6, 7.5lbs, 20.5". We did the NT scan and bloodwork while pregnant and it showed no abnormalities and a 1 in 10000 chance of having DS. The hospital physician didn't say anything about seeing DS markers, nor did the other ped at this practice that we saw a few weeks ago for reflux issues.
The doctor said her concerns are that DD doesn't clearly look like either of us yet and that her eyes are slightly almond shaped. She was also a bit concerned about the creases in her hands, though both hands do have two creases and none of them extend all the way across the hand. She has an umbilical ulcer, but the doctor said that is common and resolves itself in most children by the age of 5. The obgyn that delivered her said I had a "very thick healthy cord" so we figure that contributed to the ulcer. She was also sticking her tongue out during the exam, but she was hungry and her dad keeps sticking his tongue out at her and trying to get her to reciprocate, which she does a lot of the time.
The doctor said that DD has great muscle control, which she does. Her head control is great and she kicks so hard we almost can't get a diaper on her. When we hold her in a standing position she will take her weight on her legs, and she's been doing that since 3 or 4 weeks.
She is in the 95th percentile for height at 24" and the 95th for weight at 14.5lbs (at 8 weeks she was 13.1lbs). She is exclusively breastfed and gained 3.5lbs in each of month one and two. In the two weeks since our last doctor appt for the reflux she has gained a pound and a half.
I'm reading about symptoms and I just don't see many of them. Her hands are smallish I guess, but her fingers are long and proportionate, and I have extremely small hands with short fingers, so that alone isn't worrisome. Her feet and toes are short and fat, but again, so are mine. She doesn't have a large space between her first and second toes.
Her eyes are almond shaped and do seem to slant up, but I don't see extra skin folds, nor do I see white spots in her irises.
I don't know what else to look for, and I know I'm rambling here, but I'm nervous for her. I attached a picture, don't know if that will help. I of course think she's beautiful and perfect, so i am not unbiased. Obviously I'm not looking for Internet strangers to diagnose my daughter, I'm just wondering what else I should be looking for, and if anyone has a similar story and any wisdom to share.
Me: 37 DH: 37
DD1 born 6-21-15
DD2 born 6-11-17
DS born 9-5-18