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Essential Answers

By Elizabeth Walker | September 6 2019

When Kasey Hilton was 19 weeks pregnant, she and her husband, Mike, visited U-M Midwives for their first ultrasound. Not knowing what to expect, the couple wasn’t concerned when a doctor was called into the room. Then, everything changed.

The doctor came in and introduced herself as a high-risk obstetrician (OB). “Immediately, I was like, okay something's wrong, because you don't introduce yourself as a high-risk OB unless there's a problem,” Kasey recalls. Their son, Carter, had myelomeningocele, the most severe form of Spina Bifida.

Intra-uterine surgery might be an option for Kasey and Carter, but only if they qualified. A battery of tests would need to be performed to confirm they were eligible. Many of those tests were run in the Department of Pathology’s laboratories.

One big qualifier would be that Carter did not have any other genetic disorders. Time was of the essence, since the surgery would need to be performed prior to 25-weeks’ gestation. To find out, an amniocentesis was performed, and delivered to Pathology’s Cytogenetics Laboratory, which needed to interpret the results by viewing Carter’s chromosomes.

Turquessa Brown-Krajewski, Cytogenetics Oncology Supervisor, explains, “The amniotic fluid has cells floating in it from the fetus, and what we do is we spin down the fluid to get those cells to settle out. Those cells are cultured, generally over 7 – 10 days, to grow up. Once we get them to grow, then they'll naturally produce metaphase cells that we can look at under the microscope and look for a karyotype.”

The team in cytogenetics uses special software called CytoVision to photograph the chromosomes and can then digitally cut them out and arrange them side-by-side to compare. They are looking for 46 chromosomes which don’t have any rearranged, missing, or swapped pieces.

Fortunately, Carter’s amniocentesis and other tests were clear. Kasey and Carter were able to have the surgery, which was successful. Carter is now a nearly 5-year-old boy who enjoys swimming and playing with his new baby brother. Kasey runs the Carter and Friends Foundation with the mission to raise money and awareness for Spina Bifida, primarily research with fetal surgery and outcomes of children with Spina Bifida as they grow.

 
patient and families cytogenetics clinical pathology
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