COLORADO FETAL CARE CENTER
PRECISION MEDICINE
Written in Their Genes
How can genetic testing advance treatment for a mother and baby with a rare abnormality ?
Katie Gleeson was searching for clues . At 10 weeks pregnant , she turned to genetic testing in hopes of learning more about herself , her unborn child and the fetus she ’ d previously lost . That glimpse into her genes revealed answers that were greater — and more urgent — than she ever could ’ ve predicted .
Gleeson ’ s journey in precision medicine began at UCHealth where she met with Manesha Putra , MD , a maternal fetal medicine physician specializing in prenatal genetics and genomics . Dr . Putra confirmed that Gleeson carried a MAGED2 gene variation , which is associated with Bartter syndrome , a rare pregnancy complication that affects a fetus ’ kidney function . With both patients facing a potentially life-threatening condition , Dr . Putra referred Gleeson to Colorado Fetal Care Center maternal fetal medicine specialist , Nicholas Behrendt , MD .
“ Bartter syndrome is an abnormality that causes the fetus to produce a massive amount of urine , which leads to a massive amount of amniotic fluid — a condition called polyhydramnios ,” Dr . Behrendt explains . “ Polyhydramnios can lead to significant complications , the biggest one being premature birth .”
Premature birth can result in long-term consequences for the newborn , and if they ’ re born extremely early , the newborn may not be able to survive .
Gleeson ’ s genetic testing also revealed a gene variation that can cause heart complications , such as cardiomyopathy , a disease of the heart muscle . Although the patient ’ s heart was healthy at the time , her care team knew that pregnancy , as well as labor and delivery , could strain the body and cause such genetic predispositions to manifest .
Despite these potential obstacles , Gleeson ’ s genetic anomalies were detected early in her pregnancy , meaning Drs . Putra and Behrendt were in a unique position to create a personalized care plan that would keep both her and her baby healthy .
A PROACTIVE APPROACH
The first step in Gleeson ’ s care was keeping her polyhydramnios at bay through the amnioreduction process .
“ An amnioreduction entails putting a needle in and draining amniotic fluid several times over the course of the pregnancy to keep pressure off the uterus and prevent the patient from delivering early ,” Dr . Behrendt says . “ We don ’ t currently have a way to treat the genetic variant that causes Bartter syndrome inside the womb , so we had to focus on treating the polyhydramnios , the complication of her variant .”
While the procedure is relatively common , Dr . Behrendt suspected that Bartter syndrome caused Gleeson to lose a previous pregnancy , increasing the importance of well-timed reductions . Additionally , given the patient ’ s condition , Dr . Behrendt knew he ’ d have to drain the fluid several times .
“ The challenge of an amnioreduction is entering the amniotic sac safely , removing that fluid and minimizing complications , such as breaking the water , going into labor or causing bleeding ,” Dr . Behrendt adds .
To minimize such hurdles , Dr . Behrendt monitored Gleeson closely , ultimately performing more than 30 ultrasounds .
“ The minute we started to see her amniotic fluid increase , we wanted to be quick to perform an amnioreduction in order to minimize complications from polyhydramnios ,” Dr . Behrendt says . “ We did her first amnioreduction in the low 20-week range , which is pretty early compared to when we usually do a procedure like that .”
Dr . Behrendt removed multiple liters of amniotic fluid during each of Gleeson ’ s three amnioreductions , which helped minimize the number of procedures needed .
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