title: Prenatal diagnosis of hemoglobinopathies in Ontario, Canada.
abstract: In 1989, the Province of Ontario established a molecular diagnostic laboratory for carrier detection and prenatal diagnosis of hemoglobinopathies. Over the past 15 years, the laboratory has provided prenatal diagnosis for 672 pregnancies at-risk for severe hemoglobinopathies: 276 (41%) for homozygous beta-thalassemia or hemoglobin (Hb) E/beta-thalassemia, 211 (31%) for homozygous alpha 0-thalassemia (Hb Bart's hydrops fetalis), and/or Hb H disease, and 185 (28%) for various sickling disorders (Hb SS, Hb SC, Hb S/beta-thalassemia). Despite the availability of services for carrier screening, genetic counseling, and prenatal diagnosis, there has been only a modest reduction in the overall incidence of hemoglobinopathies in Ontario.
authors.affiliation: Department of Pathology and Molecular Medicine, Faculty of Health Sciences, McMaster University Medical Centre, 1200 Main Street West, Hamilton, Ontario L8N 3Z5, Canada.
authors.forename: Raveen K
authors.initials: RK
authors.lastname: Basran
authors.forename: Margie
authors.initials: M
authors.lastname: Patterson
authors.forename: Lynda
authors.initials: L
authors.lastname: Walker
authors.forename: Lisa M
authors.initials: LM
authors.lastname: Nakamura
authors.forename: Barry
authors.initials: B
authors.lastname: Eng
authors.forename: David H K
authors.initials: DH
authors.lastname: Chui
authors.forename: John S
authors.initials: JS
authors.lastname: Waye
mesh_terms: D000328:Adult; D000649:Amniocentesis / Q000706:statistics & numerical data; D000755:Anemia, Sickle Cell / Q000175:diagnosis / Q000453:epidemiology / Q000517:prevention & control; D015193:Chorionic Villi Sampling / Q000706:statistics & numerical data; D005006:Ethnicity / Q000235:genetics; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000453:epidemiology; D006580:Genetic Carrier Screening; D005817:Genetic Counseling; D005865:Gestational Age; D006453:Hemoglobinopathies / Q000175:diagnosis* / Q000453:epidemiology / Q000517:prevention & control; D006801:Humans; D015994:Incidence; D008297:Male; D009864:Ontario / Q000453:epidemiology; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000706:statistics & numerical data*; D012306:Risk; D013789:Thalassemia / Q000175:diagnosis / Q000453:epidemiology / Q000517:prevention & control