At my 27 week ultrasound, a double bubble was seen and I was diagnosed with polyhydramnios. I was told my baby had a 50/50 chance of having Down syndrome. I took the maternit21 test which showed she had partial and mosaic trisomy 13 25% -33%. We did not get an amnio due to an increased risk from the polyhydramnios. On August 3rd, 2016, I had my daughter. I was 37 weeks exactly. She was 5 lbs 8 oz and 19 3/4 inches long. She had surgery for her duodenal atresia when she was a day old. She was also born with an overlapping toe and twisted foot. When we left the nicu, they had diagnosed her with, “anemia, duodenal web resection, meckels diverticulectomy, appendectomy, accessory spleen excision, rash, pfo, forehead prominence, epicanthal folds, microophthalmia, grade 2 systolic murmur, thin elongated fingers, lack of creases over soles, mild talipes equinovarus, mild hypotonia” To our surprise, A karyotype came back negative for trisomy 13. Two weeks later, A microarray showed she has a microdeletion at 13q34. Her deletion is only 836 kb long and it is the shortest deletion on record. It affects 7 genes… the only associated condition with these genes is oguchi disease. Other 13q34 deletions are more severe, but she’s the first that they’ve identified as missing these genes so everything else is unknown. My partner and I are getting tested to see if it may be hereditary. She is 4 months old now and developing normally. She doesn’t have most of the things the doctors said she had at discharge. Her eyes and muscle tone are fine. She does have a wide nasal bridge which makes her look cross eyed sometimes but that will go away as she gets older. She has acid reflux, but is otherwise healthy and thriving at 12 lbs and 23 3/4 inches long. 10th percentile for weight and height. Her head is in the 25th percentile. I just want to share to show that doctors aren’t always right.
