Blaire Penfield

First post: Jun 23, 2021 Latest post: May 30, 2022
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In February at our 20 week anatomy scan ultrasound, it was found that Blaire had an underdeveloped vermis in her brain which is a tiny, tiny part of your brain located by the cerebellum. This can be indicative of Dandy-Walker malformation. The effects of Dandy-Walker can vary greatly. Due to this finding we proceeded to have an amniocentesis performed as this can sometimes be associated with Trisomy 13 and 18, which are typically incompatible with life diagnoses. Instead of that, the amniocentesis showed that Blaire has Trisomy 21 or more commonly known as Down Syndrome. This was a huge shock to everyone, doctors and genetic counselors included, as there were no markers for Down Syndrome present on the ultrasound. To top it off, the combination of both Dandy-Walker and Down Syndrome together is extremely rare. Following both of these diagnoses, our life has been full of ultrasounds and doctors appointments.

In April at 28 weeks, I was referred to Minnesota Perinatal Physicians where I had a fetal MRI performed and met with a pediatric neurologist that confirmed the Dandy-Walker Malformation diagnosis. The MRI also showed a likely duodenal atresia which is a blockage in the stomach that is common in Down Syndrome. Fast forward to 32 weeks I was diagnosed with severe polyhydraminos, or too much amniotic fluid. This is caused due to the duodenal atresia as the baby does not swallow and process the amniotic fluid as she is supposed to so it just collects. This was closely monitored with ultrasounds at one and then eventually two times a week from this point on. We were also closely monitored as the chance of stillbirth is higher in babies with Down Syndrome as the placenta begins to “die off” faster. At 35 weeks, I was admitted to the hospital to have an amnio-reduction procedure performed and for contractions. I was measuring 47 weeks pregnant prior to this procedure. Yikes! Luckily about 24 hours after the procedure the contractions started to taper off. Unfortunately the fluid returned quickly and it was decided by my OB and maternal fetal medicine doctors that for the health and safety of both the baby and myself we would deliver at 37 weeks instead of our original plan of 39 weeks. Our c-section was re-scheduled for June 23, 2021. I ended up being admitted to the hospital on Tuesday June 22 following an ultrasound where she was not as active as usual followed by a non-reactive non stress test. Luckily, after I was admitted she started to perk up and we were able to wait to deliver until the next day at 37 weeks.

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