Some reasons for referral include:

Preconception/Prenatal

• 3 or more miscarriages
• Age of 35 years or older at time of delivery (see advanced maternal age pamphlet)
• Exposure to medication, drugs, chemicals etc. during pregnancy
• Multiple Marker Screen--Positive Result (see factsheets or pamphlets)
• Abnormal ultrasound findings
• Previous child with a birth defect
• Previous child with a chromosome abnormality or other genetic disorder
• Specific ethnicity that may have a higher incidence of certain disorders e.g. Thalassemias (See Fact Sheet on Hemoglobinopathy)

Child

• Birth defect(s) or multiple congenital anomalies (cleft lip/palate, heart defects, spina bifida)
• Developmental Delay of unknown cause, autism
• Sensory impairments (vision, hearing)
• Metabolic disorders (PKU, galactosemia)
• Known or suspected genetic disorders e.g. (Down syndrome, Cystic Fibrosis, Muscular Dystrophy)

Adult

Family history of an adult onset disease e.g. Cancer (see familial cancer below), Huntington disease, Hemachromatosis, Muscular dystrophies, Marfan syndrome.

Familial Cancer

Recent scientific advancements have prompted an increase in interest in the area of familial or hereditary cancers such as breast, ovarian, and colon cancers.  Familial cancers make up only 5-10% of all cancers.

The genetics nurse and visiting geneticist provide information and counselling to those at risk. In collaboration with the Northwestern Ontario Regional Cancer Centre a consultation with an oncologist is also available as needed.