As Royal Columbian Hospital’s cytogenetics medical director, Dr. Monica Hrynchak studies chromosomes for abnormalities that can lead to a diagnosis.
Cytogenetic testing
Royal Columbian’s far-reaching role in the study of chromosomes It was during Vicki Foley’s 20-week ultrasound that they discovered fetal measurements were about a month behind schedule. Thus began regular monitoring and eventually a planned delivery at 37 weeks. While Royal Columbian Hospital’s Variety Neonatal Intensive Care Unit looked after baby Hope for her first few weeks, it took genetic testing to offer an explanation for the newborn’s small size. She was diagnosed with a rare chromosomal condition known as Wolf-Hirschhorn syndrome. “There’s a huge spectrum of things with this syndrome,” says Vicki, seven months after Hope’s birth. “Some have certain delays or difficulties, and they range from being quite minor to being really significant. We don’t really know where she falls in yet. We are going to find out more as she grows up.” Wolf-Hirschhorn is caused by the absence of part of the short arm in chromosome number 4. It generally causes delayed growth and development and is associated with distinctive physical features.
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Since the diagnosis, Hope’s parents have been helping her develop through several exercises that target Hope’s upperbody, head support and leg extension. “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.”
Hands-on lab work The diagnosis came as a result of work in a part of Royal Columbian that people don’t usually see. The molecular cytogenetics laboratory involves the study of chromosomes, and the hospital conducts testing for the health region, other parts of the province and even as far away as Saskatchewan. “We provide the biggest and most diverse testing of anywhere in the province,” 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
