Cytogenetic testing

Vicki Foley discovered her baby was small during her 20-week ultrasound. At 37 weeks, Hope was delivered at Royal Columbian, weighing four pounds seven ounces. Genetic testing revealed Hope had a rare chromosomal condition known as WolfHirschhorn syndrome.

“There’s a huge spectrum of things with this syndrome,” says Vicki. “Some have certain delays or difficulties, and they range from being quite minor to being really significant.”

Wolf-Hirschhorn is caused by the absence of part of the short arm in chromosome number 4. It generally causes delayed growth and development.

“We are so fortunate to have a diagnosis so early in Hope’s life,” says dad Matthew Annis. “We have put a lot of effort into physical therapy, occupational therapy and really utilize the resources to help Hope.”

The diagnosis came from Royal Columbian’s molecular cytogenetics laboratory, which conducts testing for the health region, other parts of the province, and even as far away as Saskatchewan.

“Royal Columbian has one of the most diverse testing menus,” says Dr. Monica Hrynchak, Royal Columbian’s cytogenetics medical director. “We do blood chromosome analysis for couples who have recurrent pregnancy losses. We do mostly chromosome microarray for children who have developmental delay or congenital abnormalities. We also do bone marrow analysis here.”

“Over the years, our ability to provide clinical care and counselling in many cases has been enhanced or made possible thanks to the work of our cytogenetic lab,” says Royal Columbian neonatologist Dr. Zenon Cieslak.

Hope’s parents are grateful that the work of cytogenetics has focused the family on a plan for their daughter.

“I am glad we know, because we have been able to get on and help her,” says Vicki. “We have already seen big changes in her. She is doing really well.”