I'm 30 years old and 21 weeks along with my first pregnancy (aside from 2 early miscarriages), and just when we thought we were in the "all clear", my doctor stops our ulatrasound, and tells my husband to put the camera down and have a seat. I heard him say the words short femur, short humerus, and kidney dilation, but when he said "3 markers for Downs Syndrome"... I just went numb. He measured the femur and humerus below the 2nd and 5th percentile, but I'm 5'9" and my husband is 5'10" (however both our maternal sides are very short). He said if he just saw the kidneys, he wouldn't be as concerned, being that this can be common, especially in boys. He referred me to a specialist for a level II scan.
At the level II scan today, the measurements of the long bones didn't change and we still saw the kidney issue. On the positive side (maybe), none of my measurements came back close to 21 weeks (symmetric baby)... all of it about a week and a half to almost 3 weeks behind. The head was in the 20th percentile, the highest percentile of any measurement. I'm sure of my LMP dates as this was a planned pregnancy. The nuchal fold was about 3 mm... good from what I read, and the heart, bowels, stomach, brain, sandal gap, nasal bone, etc. all looked good. At first I was elated. A mostly healthy - but small - baby! But with 3 markers... I was given a chance of downs of 1 in 10, much higher than the average 45 year old woman. That means 90% not Downs Syndrome, but what else could it be?
Both my regular OB and this specialist did not suspect skeletal displaysia or IntraUterine Growth Restriction (IUGR). I feel like they're both focused on Downs, and as for any other possibility, they admittedly say they just don't know.
I didn't think I'd do this, but I'm considering getting an Amnio for 2 reasons: 1) to prepare me if it is Downs and 2) to keep the doctors focused on things they may be able to help in utero. Maybe they can even detect something else from an amnio?
Anyone have a similar experience!? Any encouragement would really help!!!
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